C0576704 NECK 65329004 ADHD C1263846 Anton_syndrome C0751730 MS 83373005 Anton syndrome, also known as Anton's blindness and visual anosognosia, is a rare symptom of brain damage occurring in the occipital lobe. Those who have it are cortically blind, but affirm, often quite adamantly and in the face of clear evidence of their blindness, that they are capable of seeing. Argyll_Robertson_pupil C0234668 CN 4129001 This lesion is a hallmark of tertiary neurosyphillis Pupils will NOT constrict to light but they WILL constrict with accommodation Pupils are small at baseline and usually both involved (although degree may be asymmetrical) Babinski_sign C0034935 REFLEX 366575004 Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Balint_syndrome C4707368 MS 765212008 A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. Broca_aphasia C0003550 MS 229654003 An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions). Deficit_in_phonologic_short-term_memory C1847609 MS Distal_sensory_impairment_of_all_modalities C1836527 SENSORY ENT_symptoms C0422833 SX 267098006 GI_symptoms C0426576 SX Gerstmann_syndrome C0017494 MS 36785009 A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation. aphasia-angular_gyrus_syndrome Hoffman_reflex_positive C0576598 REFLEX Hoffman_sign_present C0239962 REFLEX 163873006 The Hoffmann's reflex test itself involves loosely holding the middle finger and flicking the fingernail downward, allowing the middle finger to flick upward reflexively. A positive response is seen when there is flexion and adduction of the thumb on the same hand. A positive Hoffmann’s reflex and finger jerks suggest hypertonia, but can occur in healthy individuals, and are not useful signs in isolation. Horners_syndrome C0019937 CN 192915005 syndrome associated with defective sympathetic innervation to one side of the face, including the eye; clinical features include miosis, mild blepharoptosis, and hemifacial anhidrosis (decreased sweating); lesions of the brain stem, cervical spinal cord, first thoracic nerve root, apex of the lung, carotid artery, cavernous sinus, and apex of the orbit may cause this condition. sympathetic_ophthalmoplegia; sympathetic cervical paralysis; oculosympathetic_palsy Horners_syndrome_pupil C0338567 CN 271730003 A small reactive pupil. The miosis is caused by interruption of sympathetic tone. Impaired_long-term_verbal_memory C1841624 MS Laseque_sign C0575465 SENSORY 298692000 Laseque sign Lhermitte_sign_present C0576702 NECK 299950000 Lhermitte's sign (also known as Lhermitte's phenomenon also referred to as the barber chair phenomenon is the name which describes an electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. barbers_chair_sign; Lhermittes_phenomenom Microphthalmos C0026010 CN 204108000 Parinaud_syndrome C0152222 CN 37991008 A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. Phalen_sign C0277835 SENSORY Rinne_test_negative C0423549 CN 370377000 Bone conduction better than air conduction. Rinne_test_positive C0423548 CN 370378005 Air conduction better than bone conduction. Normal Rinne test. Romberg_sign_positive C0240914 Romberg_sign_present C0278127 BALANCE 373676004 Romberg_test_positive C0853374 BALANCE 163770001 The Romberg test is positive if the patient begins to sway when standing erect with eyes closed. In general, patients with cerebellar problems will not be able to stand with feet together even with eyes open. Swaying that begins when the patient closes their eyes suggests a problem with proprioception in the lower extremities. Romberg sign present Tinel_sign C0277843 SENSORY Weber_test_lateralizes_left C0521004 CN 27472009 Weber_test_lateralizes_right C0521003 31732001 Wernicke_aphasia C1510456 MS 69206000 Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. abdominal_pain C0000737 SX An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen abdominal_reflex_absent C0558753 REFLEX 274606006 Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. abdominal_reflex_reduced C0576601 REFLEX 299852009 abducens_nerve_palsy C0271355 CN abnormal_affect C1291710 MS 386782008 abnormal_color_vision C0234629 VIS 23289000 An anomaly in the ability to discriminate between or recognize colors. abnormal_involuntary_movement C0392702 SX abnormal_vestibulo_ocular_reflex C4021571 abnormal_vision C3665386 SX 7973008 Disturbance of eyesight absence_facial_sweating C0239528 CN absence_seizure C0014553 SX absent_ankle_reflex C0558845 REFLEX 274818004 absent_biceps_reflex C0558847 REFLEX 274820001 absent_body_position_sense C0426959 absent_consensual_light_reflex C0437606 164042004 absent_deep_tendon_reflexes C0241772 REFLEX absent_direct_light_reflex C0578618 CN 301944006 An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. absent_knee_reflex C0558844 REFLEX 274817009 Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. absent_left_corneal_reflex C0558840 absent_pupil_near_reaction C0578621 CN 301947004 absent_reflexes C0234146 REFLEX 37280007 A finding indicating the complete absence of neurological reflexes absent_right_corneal_reflex C0558841 absent_sensation C0278134 SENSORY absent_supinator_reflex C0558752 REFLEX 274605005 absent_radial_reflex; absent_brachioradialis_reflex absent_tendon_reflex C0278124 REFLEX 349006 absent_triceps_reflex C0558846 REFLEX abulia C0919974 MS 737585009 Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. acquired_color_vision_deficiency C0155018 CN action_tremor C0234376 EP 30721006 A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. intention_tremor; cerebellar_tremor afferent_pupil_defect C0549122 CN 232122003 The pupil responds consensually but not directly to light--so-called positive swinging flashlight test suggesting an afferent defect in the diseased eye. Marcus_Gunn_pupil; positive_swinging_flashlight_test afferent_pupillary_defect C0339662 CN 232121005 ageusia C2364111 CN 36955009 aggressive C0001807 61372001 Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. aggression; aggressive aggressive_outbursts C0554985 192083006 agitated C0085631 MS 24199005 A condition in which a person is unable to relax and be still. The person may be very tense and irritable, and become easily annoyed by small things. He or she may be eager to have an argument, and be unwilling to work with caregivers to make the situation better. agnosia C0001816 MS 42341009 Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. agraphesthesia C1328618 MS The inability to recognize letters or numbers traced on the palm of the hand despite adequate sensation. agraphia C0001825 MS 27206009 akathisia C0392156 EP 285145004 A disorder characterized by an uncomfortable feeling of inner restlessness and inability to stay still; this is a side effect of some psychotropic drugs. motor_restlessness akinetic_mutism C0001889 MS 53333005 A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. coma_vigil alexia C0002018 MS 9236007 An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. dyslexia allodynia C0458247 SENSORY 247404004 Allodynia is the elicitation of pain by stimuli that are normally not painful. painful_response_to_non_painful_stimulus altered_consciousness C0150450 SX altitudinal_hemianopia C0271205 VIS 246669008 altitudinal_scotoma C0422991 VIS 246662004 amaurosis_fugax C0149793 SX 88032003 A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition amenorrhea C0002453 SX absence of menses for three months or more. amnesia C0002622 MS 48167000 Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. memory_loss amusia C0234497 MS 26610007 anal_reflex_absent C0576612 REFLEX 299863007 anal_reflex_reduced C0751471 REFLEX 299865000 anarthria C0234517 MS 48257004 Pure anarthria is a rare disorder commonly defined as a total inability to articulate speech in the absence of any deficit both of auditory comprehension and of written language. It can follow either cortical, subcortical, or brain stem lesions. Anarthria should be kept separate from mutism (inability or unwillingness to speak in the absence of any brain lesion capable of affect the articulatory planning), as well as from dysarthria (a speech disorder due to weakness or incoordination of speech muscles). anisocoria C0003079 CN 13045009 Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. unequal_pupils ankle_clonus C0238651 REFLEX 39055007 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. anomia C0003113 MS 10325006 A language dysfunction characterized by the inability to name people and objects that are correctly perceived. anomic_aphasia C2228041 MS 10325006 anorexia C0003123 SX 79890006 clinical manifestation consisting of a physiopathological lack or loss of appetite accompanied by an aversion to food and the inability to eat. anosmia C0003126 CN 44169009 An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. loss_of_smell anosognosia C0234507 MS 20930002 A condition in which a person who suffers illness or disability seems unaware of or denies the existence of the illness or disabilit Denial_of_illness antalgic_gait C0231685 GAIT 67141003 apathy C0085632 MS 20602000 Lack of emotion or emotional expression; a disorder of motivation that persists over time. listless aphasia C0003537 MS 87486003 Cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form; caused by diseases which affect the language areas of the dominant hemisphere; general categories include receptive, expressive, and mixed forms of aphasia dysphasia aphasia_apraxia_dyslexia_or_agnosia C1291740 MS 106169008 appendicular_ataxia C0750937 COOR Ataxia that affects primarily the limbs and can be elicited by the finger-to-nose test or heel-knee-shin test or rapid alternating movements. limb_ataxia apraxia C0003635 MS 68345001 loss of ability to perform familiar, purposeful movements in the absence of paralysis or other neural sensorimotor impairment. areflexia C4228025 REFLEX 37280007 areflexia_of_lower_limbs C1856694 REFLEX areflexia_of_upper_limbs C2674177 REFLEX arm_pain C0239377 SX arms_not_swung_while_walking C0424233 EP arthralgia C0003862 SX astasia_abasia C0004090 MS 71802006 astereognosis C2830446 MS 25094008 asterixis C0232766 EP 32838008 A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. flapping_tremor; liver_flap asymmetric_smile C3842129 CN ataxia C0004134 COOR 20262006 Ataxia is the presence of uncoordinated, imprecise, and inaccurate movements. Ataxia is the cardinal sign of cerebellar disease. dyssynergia; dystaxia ataxic_dysarthria C0454599 MS 229687004 cerebellar_dysarthria ataxic_gait C0751837 GAIT 25136009 A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. ataxic_nystagmus C0585568 307700006 CN athetosis C0004158 EP 58593005 A movement disorder consisting of slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs. atrophy_of_intrinsic_foot_muscles C1864717 ATROPHY atrophy_of_the_small_muscles_in_the_hand C3808485 attention_problems C4522293 MS auditory_hallucinations C0233762 SX 45150006 Perception of sound in the absence of a corresponding stimulus. auditory_inattention C0750942 MS aura D0000009 aura_abdominal_sensation D0000001 aura_anxiety D0000328 aura_auditory D0000003 aura_auditory_hallucinations D0000347 aura_auditory_illusions D0000346 aura_autonomic_sensations D0000004 aura_autopscopy D0000340 aura_complex_visual_formed_hallucination D0000005 aura_deja_vu D0000301 aura_depersonalization_derealization D0000341 aura_dysphoria D0000344 aura_euphoria D0000345 aura_face_flushing D0000007 aura_fear D0000302 aura_genital_sexual D0000343 aura_jamais_vu D0000303 aura_music D0000011 aura_nausea D0000012 aura_noises D0000013 aura_numbness D0000014 aura_panic D0000304 aura_paresthesias D0000016 aura_psychic_sensations D0000017 aura_restlessness D0000305 aura_self_image_distortions D0000339 aura_simple_visual D0000019 aura_smell_uncinate D0000020 AURA aura_somatosensory D0000021 AURA aura_taste_gustatory D0000022 aura_time_disortions D0000342 aura_visual D0000023 aura_visual_hallucinations D0000349 aura_visual_illusions D0000348 aura_voices D0000024 autistic_features C1846135 MS automatisms C0004377 SX 52669001 Automatic, mechanical, and apparently undirected behavior which is outside of conscious control. autotopagnosia C0234511 MS 24500009 body_image_agnosia backache C0004604 SX balance_finding C0575082 BALANCE 298304004 behavioral_symptoms C0004941 SX An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. bilateral_carotid_bruit C0694544 NECK bilateral_extensor_plantar_responses C0422917 REFLEX 246588005 bilateral_fixed_and_dilated_pupils C0574118 CN bilateral_foot_drop C3807697 WEAK 15638171000119103 bilateral_hand_weakness C2196583 bilateral_hearing_loss C0018775 CN 95820000 bilateral_hemianopia C4036173 VIS bilateral_neural_hearing_loss C2315695 430977001 bilateral_papilledema C2033345 15930381000119104 bilateral_ptosis C1865916 CN bilateral_rigidity C2196964 MOTOR bilateral_sensori_neural_hearing_loss C0452138 bilateral_sixth_nerve_palsy C2881291 CN binasal_hemianopia C0271208 VIS 87278000 bipolar C0005586 MS bitemporal_hemianopia C0221184 VIS 61917005 blepharospasm C2930898 MOTOR 59026006 blind_one_eye C0271240 VIS 22950006 unilateral_blindness blindness C0456909 VIS 193699007 Inability to see or the loss or absence of perception of visual stimuli; condition may be the result of eye, optic nerve, optic chiasm or brain diseases effecting the visual pathways or occipital lobe. blindness_both_eyes C1879328 blink_reflex_absent C0576562 CN 299813002 blunted_affect C1860473 blurred_disc_margin C0278232 72436007 blurred_vision C0344232 SX 246636008 A disorder characterized by visual perception of unclear or fuzzy images. bradykinesia C0233565 EP 399317006 Abnormal slowness of movement, which is often a symptom of neurological disorders, particularly Parkinson's disease. brisk_ankle_reflex C0576629 REFLEX 299880006 brisk_biceps_reflex C0576582 REFLEX 299833003 brisk_finger_jerk C0576595 REFLEX 299846008 brisk_jaw_jerk C0576553 REFLEX 299805003 To elicit the jaw jerk, the examiner places an index finger over the jaw or chin, holding the mouth partly open, then gently taps the examiner's finger with the reflex hammer. The the brisk jaw jerk may indicate a state of generalized hyperreflexia due to a supranuclear lesion such as stroke or ALS. brisk_knee_reflex C0576623 REFLEX 299874003 brisk_knee_reflexes C1854027 REFLEX brisk_reflexes C2673700 REFLEX Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. brisk_supinator_reflex C0576588 REFLEX 299839004 brisk radial reflex; brisk brachioradialis reflex brisk_tendon_reflex C0522227 102983008 REFLEX brisk_triceps_reflex C0576576 299827007 REFLEX bulbocavernosus_reflex_negative C0576619 REFLEX 299870007 burning_pain C0234230 SX A sensation of intensley hot or searing discomfort. burning_sensation_in_eye C0234655 SX 2070002 buttock_pain C0231710 SX calf_muscle_hypertrophy C1843057 MOTOR cannot_shrug_shoulder C0427049 CN 249928002 Shoulder shrug is generally considered an action of the trapezius muscle, although the levator scapulae contributes to this action. cardiovascular_symptoms C0476270 SX carotid_bruit C0007280 NECK 419642000 A carotid bruit is a vascular murmur sound (bruit) heard over the carotid artery area on auscultation during systole. cataplexy C0007384 SX transient attack of weakness precipitated by emotional excitement; patient falls as if struck down. catatonia C0007398 MOTOR 247917007 A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. central_hypotonia C1842364 MOTOR Reduced muscle tone secondary to an abnormality of the central nervous system central_scotoma C0152191 VIS 38950008 An area of depressed vision located at the point of fixation and that interferes with central vision. centrocecal_scotoma C0271196 VIS 33014001 A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. cerebellar_ataxia C0007758 COOR 85102008 Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). cerebral_hemorrhage D0000847 cerebral_infarction D0000835 cerebrovascular_disease D0000842 cervical_root_injury C0161442 SENSORY choking C0008301 SX chorea C0008489 EP 271700006 Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. choreic_gait C0427162 GAIT 250040002 choreoathetosis C0085583 MOTOR 43105007 Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). ciliospinal_reflex_absent C0558750 CN 274603003 The ciliospinal reflex (pupillary-skin reflex) consists of dilation of the ipsilateral pupil in response to pain applied to the neck, face, and upper trunk. If the right side of the neck is subjected to a painful stimulus, the right pupil dilates (increases in size 1-2mm from baseline). This reflex is absent in Horner's syndrome and lesions involving the cervical sympathetic fibers. The enhanced ciliospinal reflex in asymptomatic patients with cluster headache is due to preganglionic sympathetic mechanisms. clasp_knife_spasticity C0277820 MOTOR 2581006 clonus C0009024 REFLEX 36649002 A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. clouded_consciousness C0683369 MS 40917007 clumsiness C0233844 SX Movements that are imprecise or inaccurate. clumsy clumsy_gait C1842201 cognitive_impairment C0338656 SX 386806002 Diminished or impaired mental and/or intellectual function cognitive_symptoms C1392787 SX Symptoms related to cognitive behavior such as language, memory, reasoning, abstract thought, and visual spatial manipulations. cogwheel_rigidity C0151564 MOTOR 55630000 A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). collapse C0344329 271787007 collapsed C0392748 SX color_blindness C0152200 CN 56852002 Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. achromatopsia coma C0009421 MS 371632003 A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation. comatose complete_deafness C0018784 complete_hearing_loss C0581883 complex_partial_seizure C0149958 SX 4103001 A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. comprehension_dysprosody C0233744 MS 112089001 An inability to comprehend emotion as conveyed by the prosody of speech. concentric_visual_field_loss C4478437 conduction_aphasia C0234471 MS 89410007 A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. confabulation C0233800 MS 17842005 Giving untruthful answers to questions about situations or events that are not recalled due to loss of memory. Confabulation is not a conscious attempt to deceive. confusion C0009676 SX 286933003 A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation confusional_state; dazed; muddled; clouded_consciousness consitutitional_symptoms C0009812 SX A group of symptoms that affect an individual's general well being. Representative examples include fever, chills, fatigue, weakness, and weight loss. constipation C0009806 SX constricted_visual_field C0235095 VIS 267628004 An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Narrowed or reduced visual field. reduced_visual_field; narrowed_visual_field constructional_apraxia C2243023 MS 76251002 Constructional apraxia is characterized by an inability or difficulty to build, assemble, or draw objects. Apraxia is a neurological disorder in which people are unable to perform tasks or movements even though they understand the task, are willing to complete it, and have the physical ability to perform the movements. Constructional apraxia may be caused by lesions in the parietal lobe following stroke or it may serve as an indicator for Alzheimer's disease. convergence_retraction_nystagmus C2939429 CN 373590007 conversion_disorder C0009946 MS 20734000 hysteria coordination_finding C0575091 COOR 298314008 Coordination is the ability to perform complex movements precisely and accurately. coprolalia C0233729 MS Involuntary and repetitive utterances of obscene or socially inappropriate words or statements. corneal_reflex_absent C0278211 78710008 The corneal reflex is elicited by touching the cornea with a wisp of cotton or tissue. The afferent loop is ove V1 of the trigeminal nerve and the efferent loop is over the facial nerve. cortical_blindness C0155320 VIS 68574006 A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. cough C0010200 SX cranial_nerve_11_finding C0152180 CN 84759007 The major part of the spinal accessory nerve (11th cranial nerve) innervates the trapezius muscle and the sternocleidomastoid muscle. Weakness of these muscles maybe supranuclear, nuclear, or infranuclear in origin. A special visceral efferent branch to the vagus nerve is not tested clinically. Acessory_nerve_disorder cranial_nerve_12_finding C0234338 CN 106162004 The twelfth cranial nerve is purely motor and supplies the tongue. twelfth_cranial_nerve_finding; hypoglossal_nerve_finding cranial_nerve_1_finding C0751937 CN 68982002 Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste. olfactory_nerve_disorder; first_cranial_nerve_finding; cranial_nerve_I_finding cranial_nerve_2_3_4_6_vision_disorder C0042790 CN 128127008 visual_system_disorder cranial_nerve_5_finding C0234274 CN 106155008 trigeminal_nerve_finding cranial_nerve_7_finding C0234289 CN 106157000 Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. facial_nerve_finding cranial_nerve_8_finding C0001163 CN 77949003 Pathological processes of the vestibulocochlear nerve, including the branches of cochlear and vestibular nerve. Common examples are vestibular neuritis, cochlear neuritis, and acoustic neuroma. Clinical signs are varying degree of hearing loss, vertigo, and tinnitus. acoustico-vestibular_nerve_disorders cranial_nerve_9_10_finding C0234324 CN 106160007 vagal_nerve_finding cranial_nerve_finding C1291734 CN 106150003 Deficits that arise from dysfunction of one of the twelve cranial nerves. cranial_nerve_reflex_finding C1287863 CN 366342008 craniocerebral_trauma C0018674 SX cremasteric_reflex_negative C0558754 REFLEX 274607002 cutaneous_reflex_finding C0278132 REFLEX 29922007 Superficial reflexes are motor responses to scraping of the skin. They are graded simply as present or absent, although markedly asymmetrical responses should be considered abnormal as well. These reflexes are quite different from the muscle stretch reflexes in that the sensory signal has to not only reach the spinal cord, but also must ascend the cord to reach the brain. The motor limb then has to descend the spinal cord to reach the motor neurons. As can be seen from the description, this is a polysynaptic reflex. This can be abolished by severe lower motor neuron damage or destruction of the sensory pathways from the skin that is stimulated. However, the utility of superficial reflexes is that they are decreased or abolished by conditions that interrupt the pathways between the brain and spinal cord (such as with spinal cord damage). daytime_sleepiness C0541854 SX deafness C0011053 CN 15188001 lack or significant deficiency of the sense of hearing. decerebrate_posture C0231474 MOTOR 23073007 decerebration decorticate_posture C0231475 MOTOR 85157005 decortication decreased_ankle_jerk_on_affected_side C0151303 REFLEX decreased_ankle_reflex C0751473 REFLEX 299878000 decreased_Achilles_reflex; decreased_ankle_jerk decreased_arm_swing C2938985 EP decreased_biceps_reflex C0751475 REFLEX 299831001 decreased_blink_rate C0238777 EP decreased_corneal_reflex C0151572 103254005 An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. decreased_facial_sweating C4024874 CN ipsilatera_absence_of_facial_sweating decreased_gag_reflex C0751476 CN 5799008 decreased_hand_dexterity C4313189 decreased_knee_reflex C0751478 REFLEX 299872004 decreased_patellar_reflex; decreased_knee_jerk, decreased_quadriceps_reflex decreased_libido C0011124 SX decreased_lower_extremity_reflexes C1834696 REFLEX decreased_or_absent_proprioception C4313615 163740006 decreased_pain_and_temperature_of_left_shoulder C2016557 decreased_pain_and_temperature_of_radial_nerve C2016481 SENSORY decreased_pain_and_temperature_radial_arm_thumb_and_index_finger_C6 C2016530 SENSORY decreased_pain_and_temperature_sensation C2164410 SENSORY decreased_pain_and_temperature_sensation_in_distal_extremities_glove_and_stocking C2016460 SENSORY decreased_pain_and_temperature_sensation_lower_thigh_L3_dermatome C2016512 SENSORY decreased_pain_and_temperature_sensation_of_4-5th_digits__ulnar_aspect_of_hand__and_distal_aspect_of_forearm_C8 C2016445 SENSORY decreased_pain_and_temperature_sensation_of_arm C2016464 SENSORY decreased_pain_and_temperature_sensation_of_axilla_and_upper_subclavian_area_T2 C2016451 SENSORY decreased_pain_and_temperature_sensation_of_back_of_head_C2_dermatome C2016455 SENSORY decreased_pain_and_temperature_sensation_of_buttock_and_perianal_region_S3_S4_S5_dermatomes C2016456 SENSORY decreased_pain_and_temperature_sensation_of_buttocks_and_perianal_region_bilaterally_saddle_area C2016457 SENSORY decreased_pain_and_temperature_sensation_of_dorsum_of_foot C2164411 decreased_pain_and_temperature_sensation_of_face C2016472 CN decreased_pain_and_temperature_sensation_of_hand C2016480 decreased_pain_and_temperature_sensation_of_inguinal_region_L1_dermatome C2016491 SENSORY decreased_pain_and_temperature_sensation_of_knee_and_medial_leg_L4_dermatome C2016495 SENSORY decreased_pain_and_temperature_sensation_of_lateral_leg_and_dorsum_of_foot_L5_dermatome C2016499 SENSORY decreased_pain_and_temperature_sensation_of_lateral_upper_thigh C2016503 decreased_pain_and_temperature_sensation_of_leg C2016471 SENSORY decreased_pain_and_temperature_sensation_of_leg_or_foot C2164412 decreased_pain_and_temperature_sensation_of_medial_thigh_and_knee C2016508 decreased_pain_and_temperature_sensation_of_median_nerve C2016482 SENSORY decreased_pain_and_temperature_sensation_of_neck C2016518 SENSORY decreased_pain_and_temperature_sensation_of_outer_upper_arm_C5_dermatome C2016522 SENSORY decreased_pain_and_temperature_sensation_of_sole_of_foot C2016564 decreased_pain_and_temperature_sensation_of_sole_of_foot_and_posterior_leg_S1_dermatome C2016559 SENSORY decreased_pain_and_temperature_sensation_of_toe C2164413 decreased_pain_and_temperature_sensation_of_ulnar_forearm_and_arm_T1 C2016570 SENSORY decreased_pain_and_temperature_sensation_of_ulnar_nerve C2016483 SENSORY decreased_pain_and_temperature_sensation_of_upper_thigh_L2_dermatome C2016574 SENSORY decreased_pain_and_temperature_sensation_over_middle_finger_C7 C2016516 SENSORY decreased_pain_and_temperature_sensation_posterior_thigh_S2 C2016526 SENSORY decreased_pain_sensation C1837522 SENSORY decreased_pain_sensation_in_extremities C1832123 SENSORY decreased_proprioception_in_legs C2678339 decreased_supinator_reflex C0576586 REFLEX 299837002 decreased_radial-reflex decreased_tactile_sensation C2164434 SENSORY decreased_touch decreased_tactile_sensation_dorsum_of_foot C2039796 SENSORY decreased_tactile_sensation_in_distal_extremities_glove_and_stocking C2039795 SENSORY decreased_tactile_sensation_of_arm C2164435 SENSORY decreased_touch_on_arm decreased_tactile_sensation_of_back_of_head_C2_dermatome C2039775 SENSORY decreased_tactile_sensation_of_buttock_and_perianal_regions_S3_S4_and_S5_dermatomes C2039787 SENSORY decreased_tactile_sensation_of_buttock_and_perianal_regions_bilaterally_saddle_area C2039788 SENSORY decreased_tactile_sensation_of_deep_peroneal_nerve C2039791 SENSORY decreased_tactile_sensation_of_fourth_and_fifth_digits_ulnar_hand_and_distal_forearm_C8_dermatome C2039812 SENSORY decreased_tactile_sensation_of_hand C2164436 decreased_touch_on_hand decreased_tactile_sensation_of_inguinal_region_L1_dermatome C2054039 SENSORY decreased_tactile_sensation_of_knee_and_medial_leg_L4_dermatome C2054043 SENSORY decreased_tactile_sensation_of_lateral_leg_and_dorsum_of_foot_L5_dermatome C2054045 SENSORY decreased_tactile_sensation_of_lateral_plantar_nerve C2728289 SENSORY decreased_tactile_sensation_of_leg_or_foot C2164440 SENSORY decreased_touch_on_leg_or_foot decreased_tactile_sensation_of_lower_thigh_L3_dermatome C2054064 SENSORY decreased_tactile_sensation_of_medial_plantar_nerve C2728294 SENSORY decreased_tactile_sensation_of_median_nerve C2039817 SENSORY decreased_tactile_sensation_of_middle_finger_only_C7_dermatome C2054068 SENSORY decreased_tactile_sensation_of_neck C2054071 SENSORY decreased_touch_on_neck decreased_tactile_sensation_of_outer_upper_arm_C5_dermatome C2054075 SENSORY decreased_tactile_sensation_of_posterior_thigh_S2_dermatome C2054076 SENSORY decreased_tactile_sensation_of_radial_forearm_thumb_and_index_finger_C6_dermatome C2054077 SENSORY decreased_tactile_sensation_of_radial_nerve C2039816 SENSORY decreased_tactile_sensation_of_saphenous_nerve_medial_calf C2728299 SENSORY decreased_tactile_sensation_of_sole_of_foot C2164444 SENSORY decreased_touch_on_sole_of_foot decreased_tactile_sensation_of_superficial_peroneal_nerve C2054112 SENSORY decreased_tactile_sensation_of_sural_nerve C2054116 SENSORY decreased_tactile_sensation_of_ulnar_forearm_and_arm_T1_dermatome C2054120 SENSORY decreased_tactile_sensation_of_ulnar_nerve C2039818 SENSORY decreased_tactile_sensation_of_upper_thigh_L2_dermatome C2054121 SENSORY decreased_tendon_reflex C0700078 REFLEX 405946002 decreased_touch_sensation C1837521 SENSORY decreased_triceps_reflex C0751481 REFLEX 299825004 decreased_upper_extremity_reflexes C1837373 REFLEX decreased_vibration_and_proprioceptive_sense C3277802 SENSORY decreased_vibratory_sensation_of_arm_or_hand C2189582 decreased_vibratory_sensation_of_distal_extremities_glove_and_stocking C2189587 SENSORY decreased_vibratory_sensation_of_leg_or_foot C2189590 decreased_vibratory_sense C1295585 130980003 A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. deficient_saccades C0595983 CN deficient_smooth_pursuit C0751609 deja_vu C0011194 SX delayed_language C0023012 MS delayed_language_acquisition delayed_puberty C0034012 SX Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty delusion C0011253 MS 2073000 A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates. dementia C0497327 MS 52448006 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. denervation_atrophy_of_tongue C1274803 CN 403451002 Atrophy of the tongue is manifested by a loss of bulk on the affected side. With advanced atrophy, the tongue is furrowed, wrinkled, and obviously smaller on the affected side. depressed C0344315 developmental_delay C0424605 developmental_regression C1836830 SX 609225004 Loss of developmental skills, as manifested by loss of developmental milestones. deviation_of_uvula C0426994 CN 249884003 difficulty_arising C0555088 SX difficulty getting up difficulty_chewing C0239043 SX An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing difficulty_climbing_stairs C0239067 SX difficulty_in_initiating_movements C0562455 MS 284511008 A slowness in initiating movements generally suggests a frontal lobe lesion damaging circuits involved in movement initiation. difficulty_in_speaking C1527347 SX difficulty_moving_tongue C0563385 CN 285501007 difficulty_turning_body C0555095 EP 249911000 difficulty_walking C0311394 SX 228158008 Reduced ability to walk (ambulate). trouble walking difficulty_writing C0584995 MS 102938007 diplegia C0221165 WEAK 6481005 Paralysis affecting corresponding parts on both sides of the body. bilateral_paralysis diplegia_of_arms C4302036 WEAK 723157009 paralysis_of_both_arms; unable_to_move_both_arms diplopia C0012569 SX 24982008 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. seeeing_double; double_vision disinhibited C0474398 MS 247973004 disorders_of_eyelid C0015423 CN 60113004 disorganized C1855263 MS 736319003 disorientation C0233407 MS 62476001 disoriented disorientation_to_person_place_and_time C0278062 MS 39538002 disoriented C1546414 MS disoriented_in_time C0233408 MS disoriented_to_person C0455741 MS 62766000 disoriented_to_place C0233409 MS 72440003 Impaired awareness of place place_disorientation disoriented_to_time C4062229 MS 19657006 dissociative_convulsions C0349245 MS 191714002 hysterical_seizures dissociative_tremor C0349742 191713008 hysterical_tremor distal_limb_muscle_atrophy_due_to_peripheral_neuropathy_mild C1850396 ATROPHY distal_muscle_weakness C0427065 WEAK 249942005 Reduced strength of the musculature of the distal extremities distal_muscle_weakness_mild C1837343 WEAK distal_sensory_impairment C1847584 SENSORY An abnormal reduction in sensation in the distal portions of the extremities. distal_sensory_loss_of_proprioception_and_vibration_sense C1834857 SENSORY distractible C0233415 MS 28102002 disturbance_of_consciousness C0234428 3006004 dizziness C0012833 SX downbeat_nystagmus C0585544 CN 307676006 Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. dressing_apraxia C0234529 MS 179005 Dressing apraxia is a syndrome of the right (incorrectly defined as minor) hemisphere, indicating the incapacity of effectuating the acts of dressing correctly (for example passing the head in the sleeve or dressing trousers at the inverse etc…). However this difficulty should not be explained by a primary motor or sensory deficit or by a general attention failure (as it can be observed in patients with dementia, delirium or with a severe frontal syndrome). Interestingly, several cases reports of patients with pure dressing apraxia have been published, without the evidence of the co-presence of other forms of apraxia or other significant deficits in other cognitive spheres. droopy_eyelids C0423131 CN drop_attacks C0259813 SX drowsy C0013144 MS 271782001 The sensation of struggling to remain awake. drowsy_on_examination C0436584 MS 162704004 drusen_of_optic_disc C0029128 CN 33629003 Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. dull_headache C0239885 SX dysarthria C0013362 MS 8011004 imperfect speech articulation due to disturbances of muscular control. dyscalculia C0869474 MS 55640002 acalculia dysconjugate_eye_movements C1845274 CN dysconjugate_gaze C0522335 CN 103263007 dysdiadochokinesis C0234979 COOR 23133003 Dysdiadochokinesia is the inability to rapidly perform alternating movements such as having a subject pronating and supinating their hands. dysdiadochokokinesia: impaired_rapid_alternating_movements dysesthesia C0392699 SENSORY 279079003 Abnormal sensations with no apparent physical cause that are painful or unpleasant. dyskinesia C0013384 EP 9748009 a disease characterized by abnormal involuntary movements of muscles dysmetria C0234162 COOR 32566006 A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. dysmnesic_seizure C0422859 SX dysmorphic_face C0424503 HEAD dysphagia C0011168 CN 40739000 A disorder characterized by difficulty in swallowing. dysphasia C0973461 MS 20301004 dysprosody C0854737 MS A speech disorder in which the melody and rhythm of speeech fails to correctly convey the intended emotion of the speaker. dystonia C0013421 MOTOR 15802004 An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. dystonia_1 C4016919 MOTOR dystonic_disorder C0393593 EP 15802004 syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions; frequently causing twisting, flexing or extending, and squeezing movements or abnormal postures. dystonic_posture C0426961 EP 249847000 ear_pain C0013456 SX echolalia C0013528 MS 64712007 The tendency to repeat vocalizations made by another person. echo_speech electric_shock_sensations C0549248 SX encephalopathy C0085584 MS 81308009 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. end_position_nystagmus C0271390 CN 29356006 Nystagmus made apparent by looking to the right or to the left. gaze_evoked_nystagmus endocrine_symptoms C2216346 SX enlarged_blind_spot C0152192 VIS 33970004 epiphora C0152227 SX 418035005 excessive tearing; watery eyes equivocal_plantar_response C0422918 REFLEX 246589002 essential_tremor C0270736 EP expressive_aphasia C0917814 MS 229665008 extensor_plantar_response C3714730 REFLEX extensor_plantar_response_left C0576640 REFLEX 299891004 extensor_plantar_response_right C0576641 REFLEX 299892006 extensor_posture C1842657 MOTOR extensor_rigidity C0239325 MOTOR extinction C0015347 MS 71778000 extinction_and_neglect C3481646 MS 22058002 eye_deviated C0239427 CN eye_movement_disorder C0028850 CN 45030009 pathologic process affecting the voluntary or reflex-controlled movements of the eye. eye_pain C0151827 SX eyelid_ptosis C0005745 CN 11934000 Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. face_pain C0015468 SX facial_diplegia C1836003 CN bilateral_facial_weakness facial_dystonia C1395979 MOTOR facial_myokimia C0270871 EP 1070000 Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). facial_numbness C0239511 309557009 Loss of sensation to temperature, pin prick, or touch on the face. facial_palsy_LMN C0751142 CN facial_paralysis C0015469 CN 280816001 Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). facial_paresis C0427055 CN 95666008 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). facial_weakness; facial_droop facial_paresthesia C0239517 symptoms 95665007 facial_sensation_decreased_V1 C2237377 CN facial_sensation_decreased_V2 C2237381 CN facial_sensation_decreased_V3 C2237384 CN facial_tic C0338467 MOTOR 230335009 facial_weakness_LMN C0427057 CN 249933003 Facial weakness due to a lesion of the facial nerve or the facial nerve nucleus. In general, both upper and lower face are equally affected. facial_weakness_UMN C0427058 CN 249934009 Facial weakness due to lesion above the facial nerve nucleus. Supranuclear lesions generally cause facial weakness that is worse in the lower face than the upper face due to bilateral supranculear control of the upper face. falling_down C0085639 BALANCE 161898004 A sudden movement downward, usually resulting in injury familial_tremor C0393615 EP fasciculation C0015644 MOTOR 82470000 Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. muscle_fasciculation fasciculation_of_tongue C0239548 CN 249878001 fatigue C0015672 SX 84229001 state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. fear C0015726 SX 1402001 Feeling of dread or distress whose cause can be identified fecal_incontinence C0015732 SX festinating_gait C0231694 GAIT 397776000 festination fever C0015967 SX 386661006 Abnormal high body temperature fine_rapid_hand_tremor C1860864 EP fine_tremor C0234373 EP 42800007 finger-nose_test_abnormal C0427186 COOR 250063007 finger_agnosia C0234509 MS 3449007 An inability or difficulty differentiating among the fingers of either hand as well as the hands of others finger_and_wrist_extensor_weakness C1866142 WEAK finger_dysmetria C1847354 finger_tremor C0239601 EP fixed_dilated_pupil C0522340 CN 103271006 flaccid_dysarthria C0454597 MS 229685007 lower_motor_neuron_type_dysarthria; bulbar_type_dysarthria flaccid_hemiplegia_dominant_side C2875327 flaccid_motor_tone C0026825 MOTOR 397488002 Lack of normal muscle tone. flaccidity; flaccid_tone; flaccid_muscle_tone flaccid_paraplegia C0452143 192966000 flat_affect C0233471 MS 932006 flight_of_ideas C0233657 MS 28810003 Rapid succession of thoughts pertaining to different subjects that are still connected. flinging_movements_of_legs C0427094 SX foot_dorsiflexor_weakness C1866141 WEAK foot_drop C0085684 WEAK 6077001 Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. foot_drop_gait C0427149 GAIT 27253007 An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. forgetful C0542476 55533009 An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. freezing_of_gait C0860515 GAIT 443544006 Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk gag_reflex_absent C0234784 5258001 gait_apraxia C1510417 GAIT 30767006 Impaired ambulation not attributed to sensory impairment or motor weakness. The impairment is thought to be due to disorganization of high level motor programs for walking. gait_difficulty C0575081 gait_finding C0575079 GAIT 298302000 gaze_palsy C1112261 CN gegenhalten C0231519 MOTOR 24033006 paratonia general_unsteadiness C0427108 SX 271713000 generalized_hypotonia C1858120 MOTOR generalized_muscle_hypertrophy C2010782 MOTOR generalized_seizure C0234533 SX generalized_weakness C0746674 WEAK Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. getting_lost C0424015 SX 247664009 A form of disorientation where the person loses their way and is unable to get to their destination. glabellar_reflex_abnormal C1142017 REFLEX 299802000 global_aphasia C0234469 MS 23011003 total_aphasia glossopharyngeal_nerve_finding C0751941 CN 80962007 Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. glove_sensory_loss C0277840 SENSORY 63755003 glove_anesthesia graphesthesia_impaired C0576697 MS 299945006 grasp_reflex C0234175 REFLEX grasp_reflex_present C2367679 REFLEX hallucination C0018524 SX 7011001 subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real; may be of organic origin, drug induced, or associated with a mental disorder. hand_grip_myotonia C2749495 MOTOR Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. difficulty releasing handgrip harmful_thoughts C0438698 MS 162314006 head_finding C1320354 headache C0018681 SX pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions. hearing_impaired C1384666 CN 103276001 A general term for the complete or partial loss of the ability to hear from one or both ears. hearing_loss C3887873 SX hearing_loss_left_ear C0262502 CN hearing_loss_right_ear C0262503 CN heel-shin_test_abnormal C0427189 COOR 250066004 hemiageusia C3698014 CN 697992008 hemianopia C0018979 CN 77674003 Partial or complete loss of vision in one half of the visual field of one or both eyes. hemiballismus C0221169 MOTOR 66637005 Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. hemifacial_anhidrosis C3888440 CN A lack of sweating on one side of the face. hemifacial_spasm C0278152 EP 13753008 Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. hemiparesis C0018989 WEAK 20022000 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. hemiplegia C0018991 WEAK 50582007 Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. hemiplegic_gait C0231696 GAIT 52751000 hemisensory_dysesthesia_or_hyperesthesia C2039767 SENSORY hemisensory_loss C0234216 SENSORY 14686007 hemianesthesia hemisensory_loss_to_all_modalities C2030490 SENSORY hemisensory_loss_to_pain_and_temperature C2016484 SENSORY hemisensory_loss_to_touch C2039819 SENSORY hemisensory_loss_to_vibration C2189605 SENSORY hemisensory_neglect C0751418 32422007 herpes_simplex_encephalitis D0000851 heteronymous_hemianopia C0271207 VIS 344104004 hiccoughs C0019521 high_pitched_voice C0241703 CN 51406002 An abnormal increase in the pitch (frequency) of the voice high_steppage_gait C3552731 hip_flexor_weakness C3279725 WEAK history_of_a_fall C1561668 SX hoarseness C0019825 homocidal_ideation C0455204 225450009 homonymous_hemianopia C0271202 VIS 34063005 homonymous_quadrantanopia C0438977 VIS 193679001 horizontal_diplopia C0751077 horizontal_gaze_palsy C0339651 CN 232115006 horizontal_nystagmus C0271385 CN 81756001 Nystagmus consisting of horizontal to-and-fro eye movements. hostility C0020039 79351003 Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. hyperactive C0424295 MS 44548000 Hyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted. hyperacusis C0034880 SX 25289003 Abnormally increased perception of sound. painful_sensitivity_to_sound; sounds_seem_unnaturally_loud hyperacusis_left_ear C2881989 1088941000119107 hyperacusis_right_ear C2881988 hyperalgesia C0020429 SENSORY 55406008 excessive sensitivity to painful stimuli. hyperpathia hyperexplexia C0234166 REFLEX hyperkinesia C3887506 EP 44548000 Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders. hypermetria C3668822 COOR 450881007 Overshooting the target on rapid-alternating-movements. hyperreflexia C0151889 REFLEX 86854008 Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. hypertelorism C0020534 HEAD hypertonia C0026826 MOTOR 41581000 abnormal increase in skeletal or smooth muscle tone; skeletal muscle hypertonicity may be associated with pyramidal tract lesions or basal ganglia diseases. muscle_hypertonia hypertrophy_of_lower_leg_muscles C2047656 MOTOR hypertrophy_of_sternocleidomastoid C3553931 MOTOR hypertropia C0020575 CN 40608009 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. hypesthesia C0020580 SENSORY Diminished sensation in one or more modality including temperature sense, vibration sense, pain sense, light touch sense, or proprioception. hypnogoguic_hallucinations C0233773 SX hypokinesia C0086439 EP 255385008 Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hypokinetic_dysarthria C2017999 MS 229688009 extrapyradimal_type_dysarthria hypomanic C0241934 281257007 A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships. hypomelanotic_macule C4024220 SKIN hypometria C0234165 COOR 69752006 Undershooting the target on rapid alternating movements. hypometric_saccades C0423082 CN hypophonia C0521007 MS 34527004 Reduced intensity (volume) of speech. hyporeflexia C0151888 REFLEX 22994000 Decreased but not necessarily absent deep tendon reflexes. hyposmia C2364082 CN 83156004 Decreased ability to smell. reduced_sense_of_smell, impaired_sense_of_smell hypotonia C0026827 MOTOR 398152000 Diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. muscle_hypotonia hysterical_blindness C0221473 MS 88902008 hysterical_blindness hysterical_gait C0427177 MS 271707009 hysterical_mutism C1400338 MS 70066000 conversion_mutism hysterical_paralysis C0237766 MS 88984006 hysterical_paresis ictal_Jacksonian_seizure D0000092 ictal_abdominal_pain D0000025 ictal_absence_seizure D0000026 ictal_aggressiveness D0000844 ictal_akinetic_seizure D0000310 ictal_altered_awareness D0000027 ictal_amnesia D0000028 ictal_apnea D0000029 ictal_arm_posturing D0000030 ictal_arrhythmia D0000031 ictal_astatic_seizures D0000311 ictal_asystole D0000032 ictal_atonic_seizure D0000033 ictal_atypical_absence D0000034 ictal_auditory D0000035 ictal_auditory_hallucinations D0000036 ictal_automatisms D0000037 ictal_autonomic D0000038 ictal_behavioral D0000039 ictal_behavioral_arrest D0000040 ictal_bipedal_automatisms D0000041 ictal_blurred_vision D0000042 ictal_body_rocking D0000043 ictal_bradycardia D0000044 ictal_clonic_activity D0000045 ictal_clonic_seizure D0000832 ictal_clouded_consciousness D0000046 ictal_complex_auditory D0000047 ictal_complex_partial_seizure D0000048 ictal_complex_phenomenology D0000049 ictal_complex_postures D0000050 ictal_complex_visual D0000051 ictal_confusion D0000052 ictal_crying_dacrystic D0000831 ictal_cyanosis D0000053 ictal_deja_vu D0000054 ictal_dialeptic_seizure D0000312 ictal_dizziness D0000055 ictal_dream_state D0000056 ictal_drop_attacks D0000057 ictal_dysmnesia D0000058 ictal_dystonic_posturing D0000327 ictal_eye_blinking D0000060 ictal_eye_deviation D0000061 ictal_eye_lid_fluttering D0000062 ictal_eyes_rolling_back D0000063 ictal_face_and_head D0000064 ictal_face_flushing D0000065 ictal_face_jerks D0000068 ictal_face_numbness D0000067 ictal_facial_movements D0000069 ictal_faintness D0000070 ictal_falling D0000071 ictal_fear D0000072 ictal_febrile_seizure D0000073 ictal_feeling_strange D0000074 ictal_fencing_posture D0000075 ictal_figure_of_4_sign D0000076 ictal_finding D0000314 ictal_flexor_spasm D0000078 ictal_focal_clonic D0000079 ictal_focal_motor_seizure D0000080 ictal_focal_seizure D0000849 ictal_focal_sensory_seizure D0000081 ictal_generalized_seizure D0000840 ictal_gyratory_seizure D0000082 ictal_hallucinations D0000083 ictal_head_dropping D0000084 ictal_head_rolling_back D0000085 ictal_head_turning D0000086 ictal_hemiplegia D0000087 ictal_hyper_emotionality D0000088 ictal_hyperkinetic_motor_signs D0000089 ictal_hypermotor_seizure D0000315 ictal_impaired_cognition D0000330 ictal_infantile_spasms D0000091 ICTAL ictal_jamais_vu D0000326 ictal_laughter_gelastic D0000094 ictal_limb_thrashing D0000095 ictal_lip_smacking D0000096 ictal_loss_of_consciousness D0000097 ictal_moans_groans_and_unintelligible_speech D0000099 ictal_motor D0000100 ictal_motor_automatisms D0000101 ictal_muscle_twitching D0000102 ictal_mydriasis D0000103 ictal_myoclonic_atonic_seizure D0000104 ictal_myoclonic_jerk D0000106 ictal_myoclonic_seizure D0000105 ictal_myoclonic_tonic_seizure D0000850 ictal_nausea D0000107 ictal_nightmares D0000108 ictal_numbness D0000333 ictal_nystagmus D0000109 ictal_pallor D0000110 ictal_picking_at_clothlng D0000112 ictal_piloerection D0000113 ictal_posturing D0000114 ictal_repetitive_speech_palilalia D0000115 ictal_screams D0000116 ictal_secondarily_generalized_tonic_clonic_seizure D0000117 ictal_seizure_type D0000318 ictal_sensory D0000332 ictal_simple_auditory D0000118 ictal_simple_partial D0000119 ictal_simple_visual D0000120 ictal_speech D0000121 ictal_speech_arrest D0000122 ictal_speech_difficulty D0000123 ictal_spitting_or_drinking D0000124 ictal_staring D0000125 ictal_tachycardia D0000126 ictal_tingling D0000334 ictal_tongue_biting D0000127 ictal_tonic_clonic_seizure D0000128 ictal_tonic_seizure D0000129 ictal_typical_absence D0000845 ictal_unclassified_type D0000319 ictal_unilateral_tonic_or_clonic_seizure D0000130 ictal_urinary_incontinence D0000131 ictal_urinary_urge D0000132 ictal_verbal_automatisms D0000133 ictal_versive_seizure D0000320 ictal_vertigo D0000135 ictal_visual D0000136 ictal_visual_hallucinations D0000137 ictal_visual_obscurations D0000138 ictal_vocalizations D0000139 ictal_vomiting D0000140 ictal_wandering D0000329 ictal_word_finding_difficulty D0000142 ideational_apraxia C0234526 MS 66397001 ideomotor_apraxia C0234523 MS 229706001 A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. impaired_abstract_thinking C0679467 MS 424100000 impaired_alertness C2712027 MS 704426000 impaired_attention C0233414 MS 76039005 impaired_balance C0575090 BALANCE impaired_body_position_sense C0576690 impaired_cognition C0009241 MS 443265004 Diminished or impaired mental and/or intellectual function. impaired_concentration C0235198 MS 60032008 impaired_distal_proprioception C4021585 SENSORY A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. impaired_elevation_of_soft_palate C0426995 CN 249885002 impaired_insight C0233823 MS 12200008 lack_of_insight; defective_insight impaired_joint_sense C0576694 299942009 impaired_judgment C0233818 MS 162327005 Judgment refers to the patient's capacity to make sound, reasoned and responsible decisions. lack_of_judgment; loss_of_judgment impaired_memory C0233794 MS 386807006 poor_memory; memory_deficit impaired_swallowing C4061143 CN 288939007 impaired_vigilance C0920048 MS impairment_in_registration C0561734 MS 283878007 impaired_working_memory; impaired_registration impairment_of_attention C0238707 MS impatient C0919568 impulsive C0021125 286756000 inability_to_walk C0560046 SX 282145008 Incapability to ambulate. inappropriate_behavior C0233522 SX 112082005 The definition of inappropriate is someone or something that is not within the bounds of what is considered appropriate or socially acceptable. inappropriate_jocularity C0233468 MS 5240007 Using humor and joking inappropriately, usually in the setting of disinhibition due to frontal lobe injury. See also witzelsucht. inappropriate_laughter_or_crying C1862946 SX Uncontrolled episodes of crying or laughing, without apparent motivating stimuli. inattentive C0424101 MS 22058002 incoherent_speech C0700129 SX 284596004 Speech which is non-sensical and difficulty to understand. This term is used and generally and does not have a precise neurological definition to describe rambling non-sensical speech. incoordination C0520966 COOR 281016006 increased_head_circumference C4083076 HEAD increased_tone_in_lower_limbs C2674843 injury_of_cervical_spine C0432666 SX injury_of_lumbar_spine C0432668 SX injury_of_thoracic_spine C0432667 SX insomnia C0917801 SX interictal_finding D0000331 internuclear_ophthalmoplegia C0152134 CN 49823009 An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. INO intrinsic_hand_weakness C4476548 WEAK weak_intrinsic_hand_muscles involuntary_movement C0427086 EP 267078001 irritable C0022107 55929007 Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience. ischemic_optic_neuropathy C0155305 CN 14357004 schemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. jamais_vu C0233803 SX jaw_jerk_brisk C3552908 REFLEX jerky_movements C0427085 SX labile_affect C0233472 MS 88729006 Instability of mood, prone to rapid changes in mood and affect. lack_of_speech_fluency C0566627 MS 39423001 lack_of_tears C0423154 246849001 lack_of_lacrimation, lack_of_tears, absent_lacrimation lancinating_pain C0948844 SX lateral_deviation_of_tongue_on_protrusion C0426986 CN 249876002 lead_pipe_rigidity C0277821 MOTOR 75147004 learning_disability C0751265 left_carotid_bruit C0694542 NECK left_equivocal_plantar_response C0576642 REFLEX left_facial_droop C3842072 CN left_foot_drop C4280873 WEAK left_hemiparesis C0457436 WEAK 278287000 left_hemiplegia C0457434 278285008 left_homonymous_hemianopia C0271204 55634009 left_proptosis C2126062 CN Bulging forward of the left eye. left_exophthalmos left_sided_headache C2168110 SX leg_numbness C0857160 leg_pain C0023222 SX legs_ataxic C0427188 COOR lethargy C0023380 MS 214264003 limb_dystonia C0751093 MOTOR A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. limb_fasciculation C1854657 MOTOR Fasciculations affecting the musculature of the arms and legs. limb_rigidity C0858572 MOTOR limb_shaking C0235081 limb_spasticity C2678242 MOTOR limb_weakness C0587246 WEAK 713514005 limited_eye_movements C0522328 CN 419326002 literal_paraphasia C0234490 MS 23869008 locked_in_syndrome C0023944 38023001 loss_of_control_of_movement C0427084 SX 249961009 loss_of_equilibrium C0278126 BALANCE 89419008 A loss of equilibrium is defined by an inability to stand upright. disequilibrium loss_of_executive_functions C4544271 MS 736317001 impaired_executive_functions loss_of_facial_expression C1852476 EP loss_of_initiative C2364087 MS 276306002 loss_of_pain_and_temperature_sensation C2749793 SENSORY loss_of_temperature_sensation C4021222 SENSORY low_back_pain C0024031 SX lower_extremity_weakness C0751410 lower_facial_weakness C0427056 CN 249932008 lower_limb_dystonia C2677696 lower_limb_hyperreflexia C1836696 REFLEX lower_limb_nerve_lesion C0574718 lower_limb_spasticity C1271100 MOTOR 394679006 lumbar_root_injury C0161444 SENSORY macrocephaly C0221355 malaise C0231218 SX A nonspecific feeling of bodily discomfort, fatigue and/or unease. manic C0338831 MS 231494001 A disorder characterized by excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood. marche_a_petits_pas C0427169 GAIT 250049001 mask_like_facies C0424448 EP 103606006 masked_facies: lack_of_facial_expression; poverty_of_facial_expression memory_lapses C0557932 SX 225038006 Temporary intermittent failures of memory. meningism C0025287 NECK 70784009 Meningism is a set of symptoms similar to those of meningitis but not caused by meningitis. Whereas meningitis is inflammation of the meninges (membranes that cover the central nervous system), meningism is caused by nonmeningitic irritation of the meninges, usually associated with acute febrile illness,especially in children and adolescents mental_and_psychological_observations C1562941 MS 416578004 mental_retardation C0025362 MS 91138005 Subnormal intellectual functioning which originates during the developmental period; multiple potential etiologies, including genetic defects and perinatal insults; intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded; IQ scores between 70 and 79 are in the borderline mentally retarded range and scores below 67 are in the retarded range. mental_status_finding C0278061 MS 36456004 mesencephalic_light_near_dissociation C4546352 CN 762663009 Classical teaching has associated all lesions of the rostral midbrain with bilateral light-near dissociation (LND), defined as attenuation of the pupil light reflex (PLR) with relative sparing of the near response. metamorphopsia C0271185 SX 42134006 A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. microcephaly C0025958 HEAD micrographia C0240341 EP 725122008 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. migraine_with_aura C0154723 SX mild_ataxia C3278191 COOR Ataxia that is of mild severity. See definition of ataxia. mild_dysarhria C3549475 MS mild_facial_weakness C1837243 CN mild_memory_disturbance C0423927 MS 192071009 mild_tremor C3553819 EP mild_upper_limb_ataxia C3552145 COOR miosis C0026205 CN 63251006 miosis constricted_pupil; miosis; abnormal_non-physiological_constriction_of_the_pupil misconduct C0681394 SX mixed_aphasia C0454576 MS 229662006 mixed_dysarthria C0454598 MS 229686008 combined_flaccid_and_spastic_dysarthria monoparesis C0270795 WEAK 79520009 Weakness in a single limb. monoplegia C0085622 WEAK 86022000 Complete loss of movement in one limb. monoplegia_arm C0154703 WEAK 41764006 monoplegia_leg C0154702 WEAK 80420005 mood_swings C0085633 MS 18963009 labile affect morbid_thoughts C0555358 162315007 motor_dysprosody C0233725 MS 20937004 A disorder characterized by the inability to convey emotion by using the prosody of speech. motor_finding C1291728 MOTOR 106145009 motor_nervous_system_finding motor_impersistence C4073148 MS The inability to continue a motor activity without repeated verbal cues (e.g. "hold your hands outstretched." motor_tic C0751900 MOTOR movement_disorder C0026650 EP 60342002 Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. muscle_atrophy C0026846 ATROPHY 88092000 A process, occurring in the muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. amyotrophy; muscle_wasting muscle_atrophy_arm C2230425 ATROPHY muscle_atrophy_deltoid C2230451 ATROPHY 719191003 muscle_atrophy_distal_leg C3280173 ATROPHY muscle_atrophy_distal_upper_Limb C4021581 ATROPHY muscle_atrophy_foot C0239647 ATROPHY muscle_atrophy_hand C0239830 ATROPHY Muscular atrophy involving the muscles of the hand. muscle_atrophy_hip_girdle C3278931 ATROPHY muscle_atrophy_in_distal_forearm_and_hands C4014002 ATROPHY muscle_atrophy_interosseous_muscles_of_hand C2230377 719188003 muscle_atrophy_intrinsic_hand_muscle C1864716 muscle_atrophy_lower_limb C4024921 ATROPHY lower_limb_amyotrophy muscle_atrophy_primarily_in_legs C4013951 ATROPHY muscle_atrophy_proximal_leg C1836767 ATROPHY Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. muscle_atrophy_shoulder C2230450 ATROPHY muscle_atrophy_shoulder_girdle C1847766 ATROPHY muscle_cramps C0026821 SX muscle_fatigue C0242979 FATIGUE 80449002 An abnormal, increased fatiguability of the musculature. fatiguability: muscle_tire_easily muscle_hypertrophy C0236033 MOTOR 249829006 general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells. muscle_rigidity C0026837 MOTOR 16046003 motor impairment whereby the hypertonic state is charcterized by bidirectional increased resistance to passive movement. muscle_twitching C0231530 SX muscle_weakness_lower_limb C1836296 WEAK 310611000009107 muscle_weakness_proximal_limb_muscle_mild_to_moderate C3149744 WEAK mutism C0026884 MS 88052002 The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental diseases. myalgia C0231528 SX muscle pain mydriasis C0026961 CN 37125009 Abnormal dilatation of the iris. dilated_pupil myedema C0456703 MOTOR 277374006 A localized contraction of a degenerating muscle, occurring at the point of a sharp blow, independent of the nerve supply. Sometimes a small bump occurs on a muscle at the site of a percussion blow. Myoedema may also occur in uremia and myxedema. myoedema myoclonus C0027066 EP 17450006 A rapid, involuntary jerk of a muscle or group of muscles. A sudden, brief, strong contraction of a muscle or group of muscles that cannot be controlled. A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. myoclonic jerks myokimia C0684219 EP 27678003 Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. Myokymia is characterized by spontaneous, fine fascicular contractions of muscle without muscular atrophy or weakness. Eyelid myokymia results from fascicular contractions of the orbicularis oculi muscle. Eyelid myokymia is typically unilateral, with the most common involvement being one of the lower eyelids. When multiple eyelids are involved, the fascicular contractions of each eyelid are independent of each other. In most cases, eyelid myokymia is benign, self-limited, and not associated with any disease. Intervention is usually unnecessary. Rarely, eyelid myokymia may occur as a precursor of hemifacial spasm, blepharospasm, Meige syndrome, spastic-paretic facial contracture, and multiple sclerosis. myopathic_gait C0547001 GAIT 250020009 Myopathic gait exaggerated alternation of lateral trunk movements with an exaggerated elevation of the hip myotonia C0027125 MOTOR 3434004 Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia occurs in some myopathies such as myotonia congenita, paramyotonia, certain channelopathies, and some forms of musuclar paralysis related to potassium metabolism. narcolepsy C0027404 SX recurrent, uncontrollable brief episodes of sleep and lapses in consciousness, often associated with hypnagogic hallucinations, cataplexy, automatic behaviors and sleep paralysis nasal_congestion C0027424 SX nausea C0027497 neck_finding C0575155 NECK 298378000 neck_pain C0007859 SX neck_pain_radiating_to_arm C2219659 SX neck_stiffness C0151315 NECK 161882006 A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side neglect_of_one_side_of_the_body C0422887 MS 246564008 hemi-inattention; sensory_inattention neologism C0233647 MS 54501006 neuromuscular_symptoms C0752252 SX nightmares C0028084 SX nuchal_rigidity C1320474 NECK 405947006 Nuchal rigidity is the inability to flex the neck forward due to rigidity of the neck muscles; if flexion of the neck is painful but full range of motion is present, nuchal rigidity is absent. numbness C0028643 numbness_of_both_feet C2219797 SX numbness_of_hand C0239832 numbness_of_lower_limb C0587055 numbness_of_skin C0522057 102603008 numbness_on_left_face C2219999 CN numbness_on_right_face C2219998 CN nystagmus C0028738 CN 563001 involuntary, rapid, rhythmic movement of the eyeball nystagmus_on_lateral_gaze C4013199 CN obscene_thoughts C0424002 247651008 ocular_apraxia C4693319 MS 193662007 Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye movement. It was first described in 1952 by the American ophthalmologist David Glendenning Cogan. People with this condition have difficulty moving their eyes horizontally and moving them quickly. The main difficulty is in saccade initiation, but there is also impaired cancellation of the vestibulo-ocular reflex. Patients have to turn their head in order to compensate for the lack of eye movement initiation in order to follow an object or see objects in their peripheral vision, but they often exceed their target. There is controversy regarding whether OMA should be considered an apraxia, since apraxia is the inability to perform a learned or skilled motor action to command, and saccade initiation is neither a learned nor a skilled action. oculomotor_apraxia ocular_bobbing C0234651 CN 46794001 Ocular bobbing is a distinctive eye movement disorder seen in patients with pontine dysfunction. The typical phenomenon consists of abrupt, spontaneous downward jerks of the eyes with a slow return to the midposition in association with paralysis of spontaneous and reflex horizontal eye movements. ocular_flutter C0234650 CN 33466002 When these back to back saccades occur purely horizontally, they are known as “ocular flutter” and can be a stage of resolving opsoclonus. olfactory_disorder C0679441 CN 362967002 olfactory_hallucination C0233765 SX 39672001 Perception of a smell in the absence of a corresponding stimulus. onset_adolescent D0000848 onset_adult D0000846 onset_child D0000852 onset_elderly D0000839 onset_infant D0000834 onset_neonate D0000833 opsoclonus C0242567 CN 194177006 Opsoclonus, also referred to as “saccadomania” or “dancing eyes”, is characterised by intermittent bursts of large amplitude high velocity multidirectional back to back saccades, and has also been reported in patients with viral encephalitis and metabolic encephalopathy, as well as in those with occult neuroblastoma and drug toxicity. optic_ataxia C4703584 MS Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. optic_atrophy C0029124 CN 76976005 Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. optic_disc_finding C0423451 CN 247201009 optic_nerve_pallor C1608971 CN optic_neuritis C0029134 CN 66760008 Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis). optokinetic_response_finding C1287641 VIS 366109004 oral_apraxia C0454608 MS 361274000 oral_dyskinesia C0454606 EP 229694001 oromandibular_dystonia C2242577 MOTOR A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. orthostatic_hypotension C0020651 28651003 fall in blood pressure associated with dizziness, syncope and blurred vision occurring upon standing or when standing motionless in a fixed position. postiural hypotension other_higher_cortical_functions C2370893 MS 311465003 pain C0030193 SX pain_in_cervical_spine C0423674 pain_in_lumbosacral_spine C0423681 pain_in_thoracic_spine C0677061 palilalia C0392185 MS The involuntary repetition of syllables or words while speaking. It is a form of verbal perseverative behavior. verbal_repetition palinopsia C0233652 SX 25462005 visual_perseveration pallor_of_optic_disk C0554970 CN 302200001 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. palmomental_reflex_present C0576496 REFLEX 299747007 The palmo-mental reflex (palm-chin reflex) is the contraction of the mentalis and orbicularis oris muscles causing wrinkling of the skin of the chin with slight retraction of the angle of the mouth as caused by stroking the skin of the ipsilateral palm. palpebral_ptosis C4539245 CN papilledema C0030353 CN 423341008 swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. optic_papillitis; optic_disc_edema; optic_disc_swelling; choked_disc paracecal_scotoma C0544679 VIS 193671003 paracentral_scotoma C0271197 VIS 64418005 paralysis_or_weakness C0497294 SX paranoia C1456784 MS paraparesis C0221166 WEAK 1845001 Weakness or partial paralysis in the lower limbs. paraphasia C0234488 MS 53096005 paraplegia C0030486 WEAK 60389000 Complete or partial loss of movement in the lower part of the body, including both legs paraplegic_gait C0427159 GAIT 250035005 paresis C0030552 WEAK 41786007 A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for paralysis (severe or complete loss of motor function). paresthesia C0030554 symptoms 91019004 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. paresthesias_of_arm C0587058 SX paresthesias_of_leg C0948992 parkinsonian_gait C0427160 GAIT 250036006 extra_pyramidal_gait partial_hearing_loss C0018772 CN 343087000 partial_third_nerve_palsy C0271370 CN 194118007 past_pointing C0234164 coordination_finding 49768006 patellar_clonus C0520823 REFLEX 54360005 pendular_nystagmus C0271388 CN 35743001 Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. percussion_myotonia C0751359 MOTOR A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). peroneal_muscle_atrophy C1389118 ATROPHY perseveration C0233651 MS 44515000 Persistent repetition of a response to different and perhaps inappropriate stimuli which may be due to a refusal or an inability to interrupt one's behavior or to change from one task to another. personality_change C0240735 SX 102943000 A disorder characterized by a conspicuous change in a person's behavior and thinking. phonophobia C0751466 SX 313387002 An abnormally heightened sensitivity to loud sounds photophobia C0085636 SX 409668002 Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. plantar_response C0437428 REFLEX 163852006 pontine_one_and_one_half_syndrome C1282373 CN 314783008 poor_balance C0234964 BALANCE 249985001 Poor balance is an inability to stand upright. bad_balance; impaired_balance; imbalance poor_coordination C0563243 SX poor_erection C0541940 SX impotence poor_eye_contact C1445953 MS 412786000 poor_hygiene C0745076 SX Poor hygiene can be a sign of self-neglect, which is the inability or unwillingness to attend to one's personal needs. Poor hygiene often accompanies certain mental or emotional disorders, including severe depression and psychotic disorders. Dementia is another common cause of poor hygiene. poor_long_term_memory C0701810 MS 247588002 poor_palatal_elevation C4227456 poor_short_term_memory C0701811 MS 247592009 poor_visual_attention C3553454 MS port_wine_stain_nevus C0206733 SKIN post_ictal_Todds_paralysis D0000164 post_ictal_aggressiveness D0000144 post_ictal_amnesia D0000145 post_ictal_aphasia D0000147 post_ictal_confusion D0000148 post_ictal_cough D0000149 post_ictal_disorientation D0000150 post_ictal_drowsiness D0000151 post_ictal_euphoria D0000152 post_ictal_finding D0000153 post_ictal_frustration D0000154 post_ictal_headache D0000155 post_ictal_hemiparesis D0000156 post_ictal_hunger D0000157 post_ictal_lethargy D0000158 post_ictal_myalgias D0000159 post_ictal_nausea D0000160 post_ictal_nose_wiping D0000161 post_ictal_psychosis D0000335 post_ictal_sleepiness D0000162 post_ictal_speech_difficulty D0000163 post_ictal_visual_field_defect D0000165 post_ictal_vomiting D0000166 postural_hand_tremor C1865820 EP primitive_reflex_finding C1287652 REFLEX 366121000 prodrome_dysphoria D0000167 prodrome_euphoria D0000325 prodrome_finding D0000168 prodrome_headache D0000169 prodrome_irritability D0000170 prodrome_mood_change D0000324 prodrome_personality_change D0000171 prodrome_sleep_alteration D0000323 profound_deafness C1864817 progressive_developmental_delay C2673430 pronator_drift C1504476 WEAK 428334004 proptosis C0015300 CN 18265008 An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Also known as exophthalmos. exophthalmos prosopagnosia C0234512 MS 18358003 The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition face_agnosia; face_blindness provocation_acoustic_stimuli D0000172 provocation_alcohol_use D0000173 provocation_awakening D0000174 provocation_fatigue D0000175 provocation_fever D0000176 provocation_hyperventilation D0000177 provocation_hypoglycemia D0000178 provocation_hypoxemia D0000179 provocation_light_flickering D0000180 provocation_menses D0000181 provocation_missed_meal_or_hunger D0000182 provocation_music D0000183 provocation_photosensitive D0000184 provocation_reading D0000185 provocation_sleep D0000186 provocation_sleep_deprivation D0000187 provocation_startle D0000188 provocation_stress D0000189 provocations D0000190 proximal_amyotrophy C1850794 ATROPHY Amyotrophy (muscular atrophy) affecting the proximal musculature proximal_muscle_weakness C0221629 WEAK 249939004 A lack of strength of the proximal muscles proximal_muscle_weakness_limb_girdle_distribution C3809138 WEAK proximal_weakness_of_the_lower_extremities C2674839 WEAK pseudobulbar_palsy C0033790 WEAK 7379000 Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. pseudopapilledema C0155300 CN 57138009 pseudoptosis C0271312 CN 58200004 psychogenic_vomiting C0233757 MS 37224001 psychomotor_retardation C0424230 MS 398991009 Abnormally slow thought processes and physical movement. pyschomotor impairment; motor retrdation ptosis C0033377 CN 29696001 ptosis_of_left_eyelid C2143081 CN 335151000119107 ptosis_of_right_eyelid C2143083 CN 340761000119100 pupil_finding C0423296 CN 247010007 pyramidal_type_weakness C0427069 WEAK 249946008 quadrantanopia C0544680 VIS 82180009 quadrantic_scotoma C1268591 VIS 129626006 quadriparesis C0270790 WEAK 91327001 Weakness of all four limbs. quadriplegia C0034372 WEAK 11538006 Severe or complete loss of motor function in all four limbs which may result from bain diseases; spinal cord diseases; peripheral nerve diseases; neuromuscular diseases; or rarely muscular diseases. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper brainstem which injures the descending cortico-spinal and cortico-bulbar tracts. tetraplegia radiating_back_pain C0850629 SX radiating_lumbosacral_back_pain C0850146 SX radiating_pain C0234254 SX radiating_thoracic_back_pain C0848194 SX rebound_dysmetria C0234163 COOR 28581003 excessive_rebound receptive_aphasia C0454578 MS 229664007 reduced_exercise_tolerance C0424551 SX 267044007 Reduced ability to withstand or participate in activities that induce physical or mental exertion. reduced_vision_in_bright_light C4313370 VIS reduced_visual_acuity C0234632 VIS 13164000 Diminished clarity of vision reflex_finding C0596002 REFLEX 106146005 Examination of the reflexes includes deep tendon reflexes (muscle stretch reflexes), cranial nerve reflexes, primitive reflexes, cutaneous reflexes, and the plantar response. respiratory_symptoms C0037090 SX resting_tremor C0234379 EP 25082004 A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse pill rolling tremor restless C3887611 162221009 An inability to rest, relax, or be still. restlessness retinal_arteriolar_occlusion C4024761 CN retinal_artery_occlusion C0035302 CN 232035005 An occlusion of the retinal artery. retinal_hemorrhage C0035317 CN 28998008 Hemorrhage occurring within the retina. retraction_nystagmus C0520731 CN 9074007 retrocollis C3887667 A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. retroorbital_eye_pain C0743724 SX retropulsion C0277845 BALANCE 35136003 Retropulsion is a form of balance instability in which patients fall backwards. It commonly observed in patients with balance difficulties due to Parkinson's disease. reverse_ocular_bobbing C0585559 CN 307691008 Reverse ocular bobbing is an abnormal spontaneous eye movement in which the eyes move rapidly and conjugately upwards (fast phase), followed by a slow drift (slow phase) back to the primary position (that is, the reverse of ocular bobbing—fast conjugate downwards deviation, with a slow return up to the midline). This eye movement disorder may be seen in patients with viral encephalitis, metabolic encephalopathy, and in those with pontine lesions. right-left_confusion C0422885 MS 1943009 left-right_confusion; left-right_disorientation right_carotid_bruit C0694543 NECK right_equivocal_plantar_response C0576643 REFLEX 299895008 right_facial_droop C3842071 CN right_foot_drop C4280872 WEAK right_hemiparesis C0457435 WEAK right_hemiplegia C0457433 278284007 right_homonymous_hemianopia C0271203 5591009 right_proptosis C2126061 CN Bulging forward of the right eye. Right exophthalmos. right_exophthalmos right_sided_headache C2219285 SX risk_OSA D0000201 risk_asphyxia_anoxia D0000191 risk_concussion D0000192 risk_dementia D0000193 risk_encephalitis D0000194 risk_factor D0000195 risk_family_history_psychiatric_disease D0000337 risk_family_history_seizures D0000196 risk_febrile_seizures D0000197 risk_head_injury D0000198 risk_hepatic_failure D0000199 risk_medication_noncompliance D0000200 risk_perinatal_brain_insult D0000202 risk_prior_stroke D0000203 risk_psychiatric_disease D0000336 risk_renal_failure D0000204 rooting_reflex_present C0576499 REFLEX 299750005 A rooting (searching) reflex is when the lips and mouth deviate toward a tactile stimulus delivered to the cheek or near the mouth. rotatory_nystagmus C0240595 CN 95783006 A form of nystagmus in which the eyeball makes rotary motions around the axis. saccadic_eye_movement_deficiency C0234649 CN 79161002 ocular_dysmetria saccadic_intrusions C1854375 CN sacral_root_injury C0161445 SENSORY saddle_area_numbness C3266098 scanning_dysarthria C0240952 scanning_speech C0278184 77420001 Scanning speech is a type of ataxic dysarthria in which spoken words are broken up into separate syllables, often separated by a noticeable pause, and spoken with varying force. scintillations C0678573 SX scotoma C0036454 VIS 23388006 Localized defect in the visual field bordered by an area of normal vision. scotoma_of_blind_spot_area_right_eye C2881395 VIS scotoma_of_blind_spot_left_eye C2881396 VIS see_saw_nystagmus C0344243 CN 95782001 Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. seizures C0036572 SX selective_mutism C0236818 MS 71959007 A voluntary form of mutism, often associated with psychiatric illness. elective_mutism semantic_aphasia C0234482 MS 331652006 senile_tremor C0149840 EP 112109002 sensation_absent C3842091 SENSORY sensory_ataxia C0240991 COOR 445458007 Proprioceptive deficits may produce truncal or appendicular ataxia that resembles cerebellar ataxia. The Romberg test may disclose that the truncal ataxia is due to proprioceptive as opposed to cerebellar dysfunction if the patient begins to sway with feet together when the eyes are closed. sensory_finding C1291731 SENSORY 106147001 sensory_level C1262068 SENSORY sensory_level_to_pain_and_temperature C2016535 SENSORY sensory_level_to_pain_and_temperature_below_C5 C2016544 SENSORY sensory_level_to_pain_and_temperature_below_C7 C2016539 SENSORY sensory_level_to_pain_and_temperature_below_T10 C2016549 SENSORY sensory_level_to_pain_and_temperature_below_T12 C2016548 SENSORY sensory_level_to_pain_and_temperature_below_T2 C2016536 SENSORY sensory_level_to_pain_and_temperature_below_T4 C2016542 SENSORY sensory_level_to_touch C2054088 SENSORY sensory_level_to_touch_at_C5 C2054098 SENSORY sensory_level_to_touch_at_C7 C2054092 SENSORY sensory_level_to_touch_at_T10 C2054104 SENSORY sensory_level_to_touch_at_T12 C2054101 SENSORY sensory_level_to_touch_at_T2 C2054091 SENSORY tactile_sensation_decreased_sensory_level_at_clavicles_T2_dermatome sensory_level_to_touch_at_T4 C2054095 SENSORY sensory_level_to_vibration C2189597 SENSORY sensory_level_to_vibration_at_clavicles C2189598 SENSORY sensory_level_to_vibration_at_iliac_spine C2189601 sensory_level_to_vibration_at_xiphisternum C2189604 sensory_loss_in_nerve_distribution C2016489 SENSORY sensory_loss_in_root_distribution C2016490 SENSORY sensory_symptoms C0423551 SX severe_headache C2957106 SX severe_headache_with_sudden_onset C2203729 SX shagreen_patch C0432363 SKIN sharp_headache C0751190 SX short_stature C0349588 shortness_of_breath C0013404 SX shoulder_numbness C0863108 SX shoulder_pain C0037011 SX shuffling_gait C0231688 GAIT 43005009 simple_partial_seizure C0086240 SX simultanagnosia C0563620 MS 285755009 sixth_nerve_palsy C0848209 CN 398760006 sixth_nerve_palsy_left_eye C2881290 CN sixth_nerve_palsy_right_eye C2881289 CN skeletal_muscle_atrophy C0541794 ATROPHY A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse. skew_deviation C0271381 CN 40631009 skin_finding C0455205 skin_symptoms C0586407 SX sleep_paralysis C0456511 SX An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. sleep_related_hallucinations C2919925 SX sleep_symptoms C2232698 SX slow_gait C1851908 GAIT slow_saccades C1321329 CN slow_speech C1859270 SX slurred_speech C0234518 SX small_head_circumference C0424688 HEAD small_optic_disc C1828214 CN 423389004 small_pupil C0728710 CN 301939004 smooth_pursuit_deficiency C0155382 CN 194176002 snout_reflex_present C0576502 REFLEX 299753007 The snout reflex is puckering and protrusion of the lips upon pressing firmly on the philtrum of the upper lip or tapping on the on the lips. It is a primitive release reflex generally indicative of frontal lobe injury. somnulence C2830004 271782001 Excessive sleepiness and drowsiness spastic_diplegia C0023882 WEAK 281411007 Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Littles_disease spastic_dysarthria C0454596 MS 229684006 A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. spastic_gait C0231687 GAIT 9447003 spasticity C0026838 MOTOR 221360009 A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. spatial_disorientation C0422893 MS 112077003 speech_finding C0566622 MS 106132005 speech_impairment C0233715 SX spinal_injury C0037937 SX spine_pain C0423673 SX staggering_gait C0701824 78691002 startle_myoclonus C1836826 EP static_encephalopathy C3662068 MS 47311000119103 stereognosis_impaired C0437345 MS 163754003 stiff_gait C1861462 GAIT stiff_legged_gait C0427140 GAIT 310021000009109 stocking_sensory_loss C0277852 SENSORY 66085007 stooped_posture C4476759 EP 87068006 A habitual positioning of the body with the head and upper back bent forward strabismus C0038379 CN 22066006 Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other. squint; heterotropia straight_leg_raising_reduced C0575461 SENSORY 298687002 With patient lying comfortably on his or her back, the examiner gently life the extended leg off the examination table. The patient reports when they experience low back pain or pain radiating down the leg positive_straight_leg_raising_test; Laseque_sign straight_leg_raising_test_positive C0241261 SENSORY stupor_obtunded C0085628 MS 89458003 A state of reduced sensibility and response to stimuli which is distinguished from coma in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. Stupor is more severe than drowsiness and stuporous patients may not achieve full consciousness even with vigorous stimulation. obtundation; stuporous; obtunded stuttering C0038506 MS Disorder in which speech is involuntarily interrupted by hesitations, repetitions, and spasms of the muscles involved in breathing or vocalization. dysfluency subcortical_aphasia C0234483 MS 5934007 subungual_fibroma C0266003 SKIN sucking_reflex_present C0576505 REFLEX 299756004 The sucking reflex is elicited by lightly touching the lips causing sucking movements of the lips and tongue. It is normal in infants but abnormal in adults. suicidal C0438696 MS 267073005 supraorbital_pain C2037494 SX swallowing_reflex_absent C0576509 CN 299760001 symptom C1457887 SX Usually a complaint by the patient that is indicative of a disease process. syncope C0039070 SX tactile_agnosia C0234505 25094008 Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. astereognosis tactile_extinction C0278135 MS tactile_inattention C2039768 MS extinction tandem_gait_test_abnormal C1142034 GAIT 401211005 Reduced ability to walk in a straight line while placing the feet heal to toe tangential_thinking C0558067 74396008 tardive_dyskinesia C0686347 EP 102449007 iatrogenic extrapyramidal disorder produced by long-term administration of antipsychotic drugs; characterized by oral/lingual/buccal dyskinesias and choreoathetoid movements of the extremities. tardive_dystonia tearing C0423153 SX tendency_to_fall C2830327 thenar_eminence_atrophy C0241360 thermal_hypesthesia C0234190 SENSORY 1140008 third_nerve_palsy C0271371 CN third_nerve_palsy_left_eye C2881282 CN third_nerve_palsy_right_eye C2881281 CN thoracic_back_pain C0423684 SX thoracic_root_injury C0161443 SENSORY thought_process_finding C1286920 MS 365252004 threatening_behavior C0562573 284614009 throbbing_headache C0423618 SX tic C0040188 EP 568005 Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. tingling_in_fingers C0850630 SX tingling_of_feet C2116331 tingling_of_skin C0235050 tinnitus C0040264 SX 60862001 symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, roaring or other noises in the ear. tinnitus_left_ear C2116482 SX 4841000119106 tinnitus_right_ear C2116484 SX titubation C0231690 EP 78691002 Nodding movement of the head or body. tongue_atrophy C0241423 50805004 tongue_is_weak C0235075 CN tongue_weakness C3277232 CN tonic_clonic_seizure C0494475 SX tonic_pupil C0040416 CN 24225004 Either no or sluggish response to light (both direct and consensual responses. Thought to be caused from denervation in the postganglionic parasympathetic nerve. Associated with Holmes-Adie syndrome described with Adie's pupil and absent deep tendon reflexes. Overall, this is a benign process (including Holmes-Adie syndrome) Adie_pupil topographical_agnosia C0271189 MS 83824009 torticollis C0040485 MOTOR 270476009 Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. wry_neck total_third_nerve_palsy C0028866 CN 388980004 Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. transcortical_aphasia C0679447 MS 130990006 transcortical_motor_aphasia C0454562 MS 229655002 transcortical_sensory_aphasia C0454568 MS 229658000 transient_amnesia C0233796 SX 307413004 A temporary and reversible loss of memory. transient_aphasia C4524123 SX transient_disturbance_of_consciousness C0858596 SX transient_loss_of_consciousness C4087400 SX transient_visual_loss C1142390 SX transient_weakness C2183888 SX trauma C3714660 SX tremor C0040822 EP 26079004 An unintentional, oscillating to-and-fro muscle movement about a joint axis. Tremors are classified by their etiology (familial, parkinsonian, etc.), their location (head, limb, etc.), frequency (slow or fast), or eleciting factor (rest, action, etc.), tremor_in_hands C0239842 EP truncal_ataxia C0427190 COOR 250067008 Truncal ataxia is manifested by swaying while standing or walking. Its origins may reflect dysfunction of cerebellar or proprioceptive systems. truncal_dystonia C4228843 MOTOR trunk_paresthesia C0241498 unable_to_protrude_tongue C0426983 CN unable_to_read C0586741 MS 309252004 unable_to_stand C0560885 BALANCE unable_to_talk C0278249 SX 286375007 mute; no_speech unconscious C0041657 MS 418107008 Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. uncooperative C0424350 MS 248042003 not willing to do what someone wants or asks for; not cooperative unilateral_neglect C0150088 MS 32422007 Impairment in sensory and motor response, mental representation, and spatial attention of the body, and the corresponding environment, characterized by inattention to one side and overattention to the opposite side. Left-side neglect is more severe and persistent than right-side neglect. hemineglect unkempt C0233429 SX 46017004 deficient in order or neatness unresponsive C0237284 MS 422768004 non_responsive unresponsive_to_painful_stimuli C1262130 MS unresponsive_to_stimuli C0857494 MS unresponsive_to_verbal_stimuli C1504376 MS unresponsiveness C0241526 MS unsteady_gait C0231686 GAIT 22631008 A shaky or wobbly manner of walking. unsteady_waddling_gait C4227868 unsteady_when_standing C0427117 BALANCE 249990003 Unsteady when standing is characterized by swaying or falling of the patient when standing upright. unsteady_wide_based_gait C4229671 upper_and_lower_limb_weakness C4313875 WEAK upper_facial_weakness C0575058 CN 298281008 upper_limb_dysmetria C3280708 COOR upper_limb_dystonia C1843267 upper_limb_hyperreflexia C1843175 REFLEX upper_limb_nerve_lesion C0574717 upper_limb_numbness C0241538 SX upper_limb_spasticity C1273957 MOTOR 394680009 urinary_frequency C0042023 SX Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation. urinary_incontinence C0042024 SX 165232002 Loss of the ability to control the urinary bladder leading to involuntary urination. urinary_retention C0080274 130951007 Inability to completely empty the urinary bladder during the process of urination urinary_symptoms C0426359 SX vagal_hoarseness C0270882 45655002 50219008 Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. verbal_paraphasia C0234491 MS 4381006 vertical_diplopia C0751079 vertical_gaze_palsy C0339652 CN 246773002 A vertical gaze palsy may be the inability to look upward or downward. poor upgaze; upgaze palsy; upgaze weakness vertical_nystagmus C0271386 CN 111533001 Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. vertigo C0042571 SX Vertigo is a symptom, rather than a condition itself. It's the sensation that you, or the environment around you, is moving or spinning vesciular_rash C0221203 SX 53788007 vestibulo-ocular_reflex_abnormal C0576567 CN 299818006 Dolls_head_reflex_absent; Dolls_head_reflex_abnormal vibration_sense_absent C0558843 274816000 visual_agnosia C0234502 MS 25762009 Difficulty in recognizing objects by visual input in absence of sensorial visual impairment visual_field_defect C3887875 VIS 12184005 An absolute or relative reduction in the extent of the normal field of vision visual_gaze_preference C4476823 CN gaze preference visual_hallucination C0233763 SX 64269007 Optical perception of an object, person or event in the absence of a corresponding stimulus. visual_impairment C3665347 VIS 397540003 visual_inattention C1856977 MS visual_neglect C0423000 MS 246670009 visual_obscuration C1321318 VIS 404666000 visual_spatial_memory_deficit C4228414 visual_symptoms C0422943 SX vocal_cord_palsy C0042928 CN 302912005 A loss of the ability to move the vocal folds. vocal_tic C0751901 MOTOR voice_change C0518179 SX voice_tremor C0234808 EP 55938009 vomiting C0042963 SX 249497008 emesis waddling_gait C0231712 GAIT 271706000 Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. wasting_of_tongue C0426494 CN 249382006 weak_cough C2202983 CN 248590003 weak_eye_closure C0427059 CN 249935005 weak_right_hand C2202993 WEAK weak_vocie C0241700 MS weakness_finger_flexors C4477022 WEAK Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. weakness_in_both_legs C2219734 WEAK weakness_left_face C4543253 CN weakness_of_abdominals C4062696 WEAK weakness_of_anal_sphincter C0426766 WEAK 249647002 poor_anal_tone weakness_of_ankle C2228039 WEAK Reduced strength of the muscles that lift or otherwise move the foot at the ankle. weakness_of_ankle_dorsiflexion C2230515 WEAK weakness_of_ankle_eversion C2230518 WEAK weakness_of_ankle_inversion C2230517 WEAK weakness_of_ankle_plantar_flexion C2230516 WEAK weakness_of_arm C0751409 WEAK 249944006 monoparesis_of_arm weakness_of_biceps C0741478 weakness_of_deltoid C2230475 weakness_of_finger_abduction_left_hand C2070310 WEAK weakness_of_finger_abduction_of_right_hand C2070309 WEAK weakness_of_finger_extensors C1832298 WEAK weakness_of_fingers C0744034 weakness_of_foot C0576233 WEAK 299471001 weakness_of_forearm C2202998 weakness_of_forearm_on_supination C2237227 weakness_of_hand C0575810 299042006 weakness_of_hand_grip C0239822 WEAK weakness_of_hip C2031318 WEAK weakness_of_hip_abductors C2237231 WEAK weakness_of_hip_adductors C2237235 WEAK weakness_of_hip_extensors C2237239 WEAK weakness_of_hip_flexors C2237244 WEAK weakness_of_intrinsic_hand_muscles C1834536 WEAK weakness_of_jaw_muscles C0240080 CN 249886001 Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes. hemianopsia weakness_of_knee C2110749 WEAK weakness_of_knee_extension C0577655 WEAK weakness_of_knee_flexors C2202999 WEAK weakness_of_left_arm C2202995 WEAK 15633401000119107 weakness_of_left_hand C2141892 WEAK 15639641000119109 weakness_of_left_leg C2165879 WEAK 15633481000119104 weakness_of_leg C0427068 WEAK 249945007 monoparesis_of_leg weakness_of_muscle_group C0151786 WEAK 26544005 Reduced strength of muscles that perform specific actions at a joint. weakness_of_muscles_of_mastication C4062882 CN weakness_of_neck_extensors C2230238 WEAK weakness_of_neck_flexors C1843637 WEAK Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). weakness_of_right_arm C2202996 WEAK 15633441000119109 weakness_of_right_hand C2196582 WEAK 13530001000004108 weakness_of_right_leg C2218016 WEAK weakness_of_sternomastoid C0426997 CN The sternocleidomastoid muscle (SCM) acts to turn the head to the opposite side. Acting together, the two SCMs thrust the head forward and flex the neck weakness_of_thumb_abduction C2070740 WEAK weakness_of_thumb_opposition C2070739 WEAK weakness_of_toe C0576333 WEAK 299575007 weakness_of_trapezius C2177090 CN Strength of the trapezius muscle is usually tested by shrugging of the shoulders, although the levator scapulae contributes to this action. Another test of the trapezius is to have the patient attempt to approximate the occipitut of the head to the acromion of the shoulder. When the trapezius is weak the arms hang lower on the affected side and the finger tips touch the hips at a lower level on the affected side. weakness_of_triceps C2230441 WEAK A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. weakness_of_wrist C2127518 WEAK weakness_of_wrist_extension C2230402 WEAK wrist_drop weakness_of_wrist_flexion C2230398 WEAK weight_loss C1262477 SX 262285001 The reduction of overall body mass; may be due to disease, diet, or drugs; can be permanent or temporary, and may involve any tissue. wide_based_gait C0856863 An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. winged_scapula C0240953 WEAK 17211005 Abnormal protrusion of the scapula away from the surface of the back withdrawal C2825032 MS A social or emotional detachment, pathological retreat from objective reality, interpersonal contact and social involvement, as in some forms of schizophrenia, depression, or schizoid, avoidant, or schizotypal personality disorders. withdrawn C0424092 247755007 witzelsucht C1408582 MS Witzelsucht "joking addiction") is characterized by a tendency to make puns, or tell inappropriate jokes or pointless stories in socially inappropriate situations. It often occurs in disinhibited patients with frontal lobe damage. word_deafness C1366485 MS 3387000 C1836949 VIS ESSO:Acquired_Epileptic_Aphasia D0000352 ILAE 1989 Acquired epileptic aphasia (Landau-Kleffner syndrome) The Landau-Kleffner syndrome is a childhood disorder in which an acquired aphasia, multifocal spike, and spike and wave discharges are associated. Epileptic seizures and behavioral and psychomotor disturbances occur in two-thirds of the patients. There is verbal auditory agnosia and rapid reduction of spontaneous speech. The seizures, usually GTCS or partial motor, are rare, and remit before the age of 15 years, as do the EEG abnormalities. Landau-Kleffner syndrome ESSO:Acquired_Immune_Deficiency_Syndrome_AIDS D0000353 Scheuermann 2009 AIDS as a disease that disposes to non-HIV pathogen persistence and duplication (pathological processes) following opportunistic infections that take advantage of a weakened immune system (physical basis). ESSO:Acute_Encephalitis_with_Refractory_Repetitive_Partial_Seizures_AERRPS D0000354 ESSO:Age_Currently D0000351 1970 Gastaut Age 1981 Bancaud Ictal ILAE 1989 ESSO:Age_of_Onset D0000358 ILAE 1969 Age ILAE 1989 Age of Onset 2003 Blume Determination hinges on seizure description, frequency, age at onset, neurological history, functional enquiry, neurological examination and one or more EEGs 2006 Engel 2010 Berg ESSO:Aicardi_Syndrome D0000359 ILAE 1989 Aicardi syndrome occurs in females and is noted for retinal lacunae and absence of the corpus callosum; infantile spasms with early onset; and often asymmetric, diffuse EEG abnormalities generally asynchronous with suppression burst and/or atypical hypsarrhythmia. Engel 2001 Aicardi syndrome ESSO:Alcohol-Withdrawal_Seizures D0000360 ESSO:Aminoacidopathy D0000363 Engel 2001 Aminoacidopathies ESSO:Amygdalo-Hippocampal_Seizures D0000364 ILAE 1989 Amygdalo-hippocampal (mesiobasal limbic or rhinoencephalic) seizures. Hippocampal seizures are the most common form; the symptoms are those described in the previous paragraphs except that auditory symptoms may not occur. The interictal scalp EEG may be normal, may show interictal unilateral temporal sharp or slow waves, may show bilateral sharp or slow waves, synchronous or asynchronous. The intracranial interictal EEG may show mesial anterior temporal spikes or sharp waves. Seizures are characterized by rising epigastric discomfort, nausea, marked autonomic signs, and other symptoms, including borborygmi, belching, pallor, fullness of the face, flushing of the face, arrest of respiration, pupillary dilatation, fear, panic, and olfactory-gustatory hallucinations. ESSO:Angelman_Syndrome D0000366 Engel 2001 Angelman Syndrome ESSO:Anterior_Frontopolar_Epilepsy D0000369 ILAE 1989 Anterior frontopolar epilepsy Anterior frontopolar seizure patterns include forced thinking or initial loss of contact and adversive movements of head and eyes, with possible evolution including contraversive movements and axial clonic jerks and falls and autonomic signs. ESSO:Antibody-Associated_Limbic_Encephalitis D0000372 Suleiman 2013 Faciobrachial dystonic seizures are seen in adults in association with LGI1 antibodies and often precede the onset of the limbic encephalitis (Irani et al., 2011). Other NSAbs are less frequently found in adults with limbic encephalitis such as alpha amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and c-aminobutyric acid B (GABAB) receptor antibodies (Lai et al., 2009; Lancaster et al., 2010; Boronat et al., 2011). Antibodies to glutamic acid decarboxylase (GAD) have been associated with limbic encephalitis (Malter et al., 2010). Although GAD is an intracellular antigen and therefore GAD Abs themselves may not be pathogenic, it is possible that unrecognized NSAbs coexist with GAD Abs (Zuliani et al., 2012). Limbic encephalitis has been described in association with a number of different autoantibodies including VGKC-complex Abs (Haberlandt et al., 2011; Suleiman et al., 2011a). ESSO:Autoimmune_Diseases D0000375 Suleiman 2013 Criteria and supportive features to suspect autoimmune epilepsy in children with seizures: The following two clinical criteria are used to suspect autoimmune epilepsy associated with NSAbs and GAD antibodies (both are needed) 1 Acute or subacute (<12 weeks) onset of symptoms. 2 Exclusion of other causes (CNS infection, trauma, toxic, tumor, metabolic, previous CNS disease). The following supportive features would strengthen the suspicion of autoimmune epilepsy (patients should have at least 1 of the following): 1 The presence of a well-defined clinical syndrome such as NMDAR or limbic encephalitis 2 CNS inflammation manifested by at least one of: a CSF pleocytosis (defined as >5 white cells/mm3) or presence of oligoclonal bands, elevated IgG index, or elevated neopterin (defined as >30 nM) b MRI abnormality compatible with an inflammatory or autoimmune encephalitis including increased signal in the mesiotemporal lobe (LE – like syndrome) c Inflammatory neuropathology on biopsy 3 History of other antibody mediated condition (e.g., myasthenia gravis), organ specific autoimmunity or other autoimmune disorders. (It is recognized that epilepsy is more common in many autoimmune disorders including multiple sclerosis, systemic lupus erythematosus, type 1 diabetes mellitus (T1DM), celiac disease, and autoimmune thyroid disease (Vincent & Crino, 2011).) 4 Response to immunotherapy Classification categories of suspected autoimmune epilepsy in children identified using the criteria and supportive features in Table 1 (Zuliani et al., modified) Classification categories expressing the likelihood of autoimmune epilepsy based on the presence of NSAbs and GAD Abs and the response to immunotherapy (see Fig. 1): Definite autoimmune epilepsy is present if: Known NSAbs are present in serum or CSF AND there is response to immunotherapy Probable autoimmune epilepsy is present if Known NSAbs are present and no immunotherapy responsiveness demonstrated (immunotherapy unsuccessful or not given) OR GAD antibodies are present AND there is response to immunotherapy Possible autoimmune epilepsy is present if known NSAbs are negative and GAD antibodies are present and no immunotherapy responsiveness demonstrated (unsuccessful or not given) OR GAD antibodies are negative and there is a response to immunotherapy Unlikely autoimmune epilepsy is present if Known NSAbs and GAD are negative and there is no response to immunotherapy Unknown autoimmune epilepsy(a) is present if Known NSAbs and GAD are negative and immunotherapy is not given (a)Patients in this category may move to a different category if they receive immunotherapy, such as “possible” if they respond or “unlikely” if they did not respond to immunotherapy. ESSO:Autoimmune_Thyroid_Disease D0000376 ESSO:Autosomal-Dominant_Nocturnal_Frontal_Lobe_Epilepsy_ADNFLE D0000381 Engel 2001 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Engel 2006 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ILAE 2010 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) ESSO:Autosomal_Dominant_Epilepsy_with_Auditory_Features_ADEAF D0000377 ILAE 2010 Autosomal Dominant Epilepsy with Auditory Features (ADEAF) ESSO:B12_Metabolism_Disorder D0000382 Engel 2001 DIsorders of folic acid and B12 metabolism ESSO:Benign_Childhood_Epilepsy_with_CentroTemporal_Spikes D0000383 ILAE 1989 Benign childhood epilepsy with centrotemporal spikes Benign childhood epilepsy with centrotemporal spikes is a syndrome of brief, simple, partial, hemifacial motor seizures, frequently having associated somatosensory symptoms which have a tendency to evolve into GTCS. Both seizure types are often related to sleep. Onset occurs between the ages of 3 and 13 years (peak 9-10 years), and recovery occurs before the age of 15-16 years. Genetic predisposition is frequent, and there is male predominance. The EEG has blunt high-voltage centrotemporal spikes, often followed by slow waves that are activated by sleep and tend to spread or shift from side to side. Engel 2001 Benign Childhood Epilepsy with Centrotemporal Spikes ESSO:Benign_Epilepsy_of_Childhood_with_Central_Temporal_Spikes_BECTS D0000384 ILAE 2010 Benign Epilepsy of Childhood with Central Temporal Spikes (BECTS) Fischer 2014 It makes little sense to say that someone has an epilepsy syndrome but not epilepsy. If evidence exists for an epilepsy syndrome, then epilepsy may be presumed to be present, even if the risk of subsequent seizures is low. ESSO:Benign_Familial_Infantile_Epilepsy D0000385 Engel 2001 Benign Familial Infantile Seizures ILAE 2010 Benign Familial Infantile Epilepsy ESSO:Benign_Familial_Infantile_Seizure D0000386 ESSO:Benign_Familial_Neonatal_Epilepsy_BFNE D0000387 ILAE 2010 Benign Familial Neonatal Epilepsy (BFNE) ESSO:Benign_Familial_Neonatal_Seizures_BFNS D0000388 Engel 2001 Benign Familial Neonatal Seizures ESSO:Benign_Focal_Epilepsy D0000389 ESSO:Benign_Infantile_Epilepsy D0000390 ILAE 2010 Benign Infantile Epilepsy ESSO:Benign_Infantile_Seizure D0000391 Engel 2001 Benign Infantile Seizures ESSO:Benign_Infantile_Seizure_Nonfamilial D0000392 Engel 2001 Benign Infantile Seizures Nonfamilial ESSO:Benign_Myoclonic_Epilepsy_in_Infancy D0000393 ILAE 1989 Benign myoclonic epilepsy in infancy is characterized by brief bursts of generalized myoclonus that occur during the first or second year of life in otherwise normal children who often have a family history of convulsions or epilepsy. EEG recording shows generalized spike-waves occurring in brief bursts during the early stages of sleep. These at- tacks are easily controlled by appropriate treatment. They are not accompanied by any other type of seizure, although GTCS may occur during adolescence. The epilepsy may be accompanied by a relative delay of intellectual development and minor personality disorders. Engel 2001 Benign Myoclonic Epilepsy In Infancy ESSO:Benign_Neonatal_Convulsions D0000394 ILAE 1989 Benign neonatal convulsions are very frequently repeated clonic or apneic seizures occurring at about the fifth day of life, without known etiology or concomitant metabolic disturbance. Interictal EEG often shows alternating sharp theta waves. There is no recurrence of seizures, and the psychomotor development is not affected. ESSO:Benign_Neonatal_Familial_Convulsions D0000395 ILAE 1989 Benign neonatal familial convulsions are rare, dominantly inherited disorders manifesting mostly on the second and third days of life, with clonic or apneic seizures and no specific EEG criteria. History and investigations reveal no etiologic factors. About 14% of these patients later develop epilepsy. ESSO:Benign_Neonatal_Seizures_BNS D0000396 ILAE 2010 Benign Neonatal Seizures (BNS) ESSO:Benign_Occipital_Epilepsy D0000397 ESSO:Benign_Rolandic_Epilepsy_of_Childhood_BREC D0000398 ESSO:Bilateral_Perisylvian_Syndrome D0000399 Engel 2001 Bilateral perisylvian syndrome ESSO:Biopterins_Deficiency D0000401 ESSO:Biotin_Metabolism_Disorder D0000402 Engel 2001 Disorders of biotin metabolism ESSO:Blitz-Nick-Salaam_Krampfe D0000403 ESSO:Carbohydrate_Metabolism_DIsorder D0000468 Engel 2001 Disorders of Carbohydrate Metabolism ESSO:Celiac_Disease D0000470 Engel 2001 Celiac disease (Epilepsy With Occipital Calcifications And Celiac Disease) ESSO:Ceroid-Lipofuscinosis D0000476 ESSO:Ceroid_Lipofuscinosis D0000475 Engel 2001 Ceroid lipofuscinosis ESSO:Chemically_Induced_Seizure D0000477 Engel 2001 Drug or other chemically induced seizures ESSO:Cherry_Red_Spot_Myoclonus_Syndrome D0000478 ILAE 1989 Cherry Red Spot Myoclonus Syndrome The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity ESSO:Childhood_Absence_Epilepsy D0000480 ILAE 1989 Childhood Absence Epilepsy Pyknolepsy occurs in children of school age (peak manifestation age 6-7 years), with a strong genetic predisposition in otherwise normal children. It appears more frequently in girls than in boys. It is characterized by very frequent (several to many per day) absences. The EEG reveals bilateral, synchronous symmetrical spike-waves, usually 3 Hz, on a normal background activity. During adolescence, GTCS often develop. Otherwise, absences may remit or, more rarely, persist as the only seizure type. Engel 2001 Childhood Absence Epilepsy ILAE 2010 Childhood Absence Epilepsy ESSO:Childhood_Epilepsy_with_Occipital_Paroxysms D0000481 ILAE 1989 Childhood Epilepsy with Occipital Paroxysms The syndrome of childhood epilepsy with occipital paroxysms is, in general respects, similar to that of benign childhood epilepsy with centrotemporal spikes. The seizures start with visual symptoms (amaurosis, phosphenes, illusions, or hallucinations) and are often followed by a hemiclonic seizure or automatisms. In 25% of cases, the seizures are immediately followed by migrainous headache. The EEG has paroxysms of high-amplitude spike-waves or sharp waves recurring rhythmically on the occipital and posterior temporal areas of one or both hemispheres, but only when the eyes are closed. During seizures, the occipital discharge may spread to the central or temporal region. At present, no definite statement on prognosis is possible. ESSO:Chromosomal_Abnormality D0000482 Engel 2001 Chromosomal Abnormalities ESSO:Chronic_Progressive_Epilepsia_Partialis_Continua_of_Childhood D0000483 Bancaud 1981 When focal motor seizure activity is continuous it is known as epilepsia partialis continua ILAE 1989 Chronic Progressive Epilepsia Partialis Continua of Childhood (Kojewnikow's Syndrome) ESSO:Cingulate_Seizures D0000486 ILAE 1989 Cingulate. Cingulate seizure patterns are complex partial with complex motor gestural automatisms at onset. Autonomic signs are common, as are changes in mood and affect. ESSO:Classical_Phenylketonuria D0000487 ILAE 1989 The classical phenylketonuria can express itself as a West syndrome. A variant of phenylketonuria with biopterins deficiency causes seizures starting in the second 6 months of life in infants who have been hypotonic since birth. The seizures are generalized motor seizures associated with erratic myoclonic jerks and oculogyric seizures. ESSO:Coffin-Lowry_Syndrome D0000489 Engel 2001 Coffin-Lowry syndrome ESSO:Cortical_Malformation_Abnormal_Development D0000491 Engel 2001 Malformations due to abnormal cortical developments ESSO:D-Glyceric_Acidemia D0000493 Engel 2001 D-Glyceric Acidemia ESSO:Degenerative_Progressive_Myoclonus_Epilepsy_Finnish_Type D0000494 ESSO:Degenerative_Progressive_Myoclonus_Epilepsy_Lundborg_Type D0000495 ILAE 1989 Degenerative progressive myoclonic epilepsy (Lundborg type) The so-called degenerative progressive myoclonic epilepsy (Lundborg type) also falls into this category. The only significant well-individualized group is the Finnish type, described by Koskiniemi et al. (1974). Onset occurs between the ages of 8 and 13 years, with myoclonus (segmental, fragmentary, and massive) and GTCS, associated cerebellar ataxia, and slowly progressive although generally mild mental deterioration. The EEG shows slow abnormalities (theta rhythms and later, delta rhythms), with generalized spike-waves predominantly in the frontal area and photosensitivity. Patients survive >15 years. ESSO:Denatorubropallidoluysian_Atrophy D0000497 Engel 2001 Dentatorubropallidoluysian atrophy ESSO:Devastating_Epileptic_Encephalopathy_in_School_Aged_Children_DESC D0000498 2013 Suleiman Previous terms used to describe similar syndromes include devastating epileptic encephalopathy in schoolaged children (DESC) (Mikaeloff et al., 2006) and acute encephalitis with refractory repetitive partial seizures (AERRPS) (Sakuma, 2009). These conditions are characterized by new-onset refractory focal status epilepticus, preceded by fever or infection in previously normal children, followed by a chronic phase of refractory focal epilepsy and severe neurologic impairment (Sakuma et al., 2010). The cause of these conditions is unknown and underlying immune mechanisms have been proposed (Sakuma et al., 2010; Specchio et al., 2010; Nabbout et al., 2011) but not proven. ESSO:Diabetes_Mellitus_Type_1 D0000499 Suleiman 2013 T1DM is a T cell–mediated autoimmune disorder, and there is an increased prevalence of epilepsy in children with this disease (Schober et al., 2012). ESSO:Doose_Syndrome D0000507 "Doose Syndrome, also called Myoclonic-Astatic Epilepsy (MAE), is an epileptic condition in children that has no known cause. The seizures, which often begin between the ages of 1 and 5, can be frequent and involve the abrupt loss of muscle control, causing the child to fall to the ground, often resulting in injury." ESSO:Dorsolateral_Seizure D0000509 ILAE 1989 Dorsolateral. Dorsolateral seizure patterns may be tonic or, less commonly, clonic with versive eye and head movements and speech arrest. ESSO:Downs_Syndrome D0000510 ESSO:Dravet_Syndrome D0000511 Engel 2001 Dravet's Syndrome ILAE 2010 Dravet's Syndrome Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), ESSO:Drug_Induced_Seizure D0000512 Engel 2001 Drug or other chemically induced seizures ESSO:Dyssynergia_Cerebellaris_Myoclonia_DCM_with_Epilepsy D0000513 ILAE 1989 Dyssynergia cerebellaris myoclonia (DCM) with epilepsy Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions. ESSO:Early-Onset_Benign_Childhood_Occipital_Epilepsy-Panayiotopoulos_Type D0000520 Engel 2001 Early-Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos Type) ESSO:Early_Infantile_Epileptic_Encephalopathy_EIEE D0000514 ESSO:Early_Infantile_Epileptic_Encephalopathy_with_Suppression_Burst D0000515 ILAE 1989 Early infantile epileptic encephalopathy with suppression burst This syndrome, described by Ohtahara et al. (1976), is defined by very early onset, within the first few months of life, frequent tonic spasms, and suppression burst EEG pattern in both waking and sleeping states. Partial seizures may occur. Myoclonic seizures are rare. Etiology and underlying pathology are obscure. The prognosis is serious with severe psychomotor retardation and seizure intractability; often there is evolution to the West syndrome at age 4-6 months. ESSO:Early_Myoclonic_Encephalopathy_EME D0000516 ILAE 1989 Early myoclonic encephalopathy The principal features of early myoclonic encephalopathy are onset occurring before age 3 months, initially fragmentary myoclonus, and then erratic partial seizures, massive myoclonias, or tonic spasms. The EEG is characterized by suppression-burst activity, which may evolve into hypsarrhythmia. The course is severe, psychomotor development is arrested, and death may occur in the first year. Familial cases are frequent and suggest the influence of one or several congenital metabolic errors, but there is no constant genetic pattern. Engel 2001 Early Myoclonic Encephalopathy ILAE 2010 Early Myoclonic Encephalopathy (EME) ESSO:Early_Onset_Benign_Occipital_Epilepsy D0000517 Engel 2001 Early Onset Benign Childhood Occipital Epilepsy - Panayiotopoulos Type ESSO:Early_Post_Cerebral_Insult_Seizure D0000518 Engel 2001 Immediate and early post cerebral insult seizures ESSO:Early_Posttraumatic_Seizure D0000519 Engel 2001 Immediate and early posttraumatic seizures ESSO:Encephalitis D0000524 ESSO:Epidermal_Nevus_Syndrome D0000527 Engel 2001 Epidermal nevus syndrome ESSO:Epilepsies_With_Grand_Mal_GTCS_Seizures_on_Awakening D0000528 ILAE 1989 Epilepsy with GTCS on awakening is a syndrome with onset occurring mostly in the second decade of life. The GTCS occur exclusively or predominantly (>90% of the time) shortly after awakening regardless of the time of day or in a second seizure peak in the evening period of relaxation. If other seizures occur, they are mostly absence or myoclonic, as in juvenile myoclonic epilepsy. Seizures may be precipitated by sleep deprivation and other external factors. Genetic predisposition is relatively frequent. The EEG shows one of the patterns of idiopathic generalized epilepsy. There is a significant correlation with photosensitivity. ESSO:Epilepsy_With_Continuous_Spike-Wave_During_Slow-Wave_Sleep D0000532 ILAE 1989 Epilepsy with continuous spike-waves during slow-wave sleep Epilepsy with continuous spike-waves during slow sleep results from the association of various seizure types, partial or generalized, occurring during sleep, and atypical absences when awake. Tonic seizures do not occur. The characteristic EEG pattern consists of continuous diffuse spike-waves during slow wave sleep, which is noted after onset of seizures. Duration varies from months to years. Despite the usually benign evolution of seizures, prognosis is guarded because of the appearance of neuropsychologic disorders. Engel 2001 Epilepsy with continuous spike-and-waves during slow-wave sleep - Other than LKS. ESSO:Epilepsy_of_Infancy_with_Migrating_Focal_Seizures D0000530 ILAE 2010 Epilepsy of Infancy with Migrating Focal Seizures ESSO:Epilepsy_with_General_Tonic_Clonic_Seizure_on_Awakening D0000533 ESSO:Epilepsy_with_Generalized_Tonic-Clonic_Seizures_Alone D0000534 ILAE 2010 Epilepsy with Generalized Tonic-Clonic Seizures Alone ESSO:Epilepsy_with_Myoclonic-Astatic_Seizures D0000536 ILAE 1989 Epilepsy with myoclonic-astatic seizures Manifestations of myoclonic-astatic seizures begin between the ages of 7 months and 6 years (mostly between the ages of 2 and 5 years), with (except if seizures begin in the first year) twice as many boys affected. There is frequently hereditary predisposition and usually a normal developmental background. The seizures are myoclonic, astatic, myoclonic-astatic, absence with clonic and tonic components, and tonic-clonic. Status frequently occurs. Tonic seizures develop late in the course of unfavorable cases. The EEG, initially often normal except for 4-7-Hz rhythms, may have irregular fast spike-wave or polyspike wave. Course and outcome are variable. Engel 2001 Epilepsy with Myoclonic - Astatic Seizures ESSO:Epilepsy_with_Myoclonic_Absence D0000535 ILAE 1989 Epilepsy with myoclonic absences The syndrome of epilepsy with myoclonic absences is clinically characterized by absences accompanied by severe bilateral rhythmical clonic jerks, often associated with a tonic contraction. On the EEG, these clinical features are always accompanied by bilateral, synchronous, and symmetrical discharge of rhythmical spike-waves at 3 Hz, similar to childhood absence. Seizures occur many times a day. Awareness of the jerks may be maintained. Associated seizures are rare. Age of onset is -7 years, and there is a male preponderance. Prognosis is less favorable than in pyknolepsy owing to resistance to therapy of the seizures, mental deterioration, and possible evolution to other types of epilepsy such as Lennox-Gastaut syndrome. Engel 2001 Epilepsy with myoclonic absences ESSO:Epileptic_Encephalopathy_Associated_With_VGKC_Antibodies D0000357 ESSO:Epileptic_Encephalopathy_with_Continuous_Spike-and-Wave_During_Sleep_CSWS D0000538 ESSO:Familial_Focal_Epilepsy_with_Variable_Foci D0000540 Engel 2001 Familial Focal Epilepsy with Variable Foci Syndromes in development ILAE 2010 Childhood to Adult Familial Focal Epilepsy with Variable Foci ESSO:Familial_Temporal_Lobe_Epilepsy D0000541 Engel 2001 Familial Temporal Lobe Epilepsy ESSO:Febrile_Convulsions D0000542 ILAE 1989 Febrile convulsions Febrile convulsions are an age-related disorder almost always characterized by generalized seizures occurring during an acute febrile illness. Most febrile convulsions are brief and uncomplicated, but some may be more prolonged and followed by transient or permanent neurologic sequelae, such as the hemiplegia-hemiatrophy-epilepsy(HHE) syndrome. Febrile convulsions tend to recur in about one-third of affected patients. Controversy about the risks of developing epilepsy later have largely been resolved by some recent large studies; the overall risk is probably not more than 4%. The indications for prolonged drug prophylaxis against recurrence of febrile convulsions are now more clearly defined, and most individuals do not require prophylaxis. Essentially, this condition is a relatively benign disorder of early childhood. Engel 2001 Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.” ESSO:Febrile_Infection-Related_Epilepsy_Syndrome_FIRES D0000543 Suleiman 2013 Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES). ESSO:Febrile_Seizures D0000544 Engel 2001 Febrile Seizures Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.” ILAE 2010 Febrile Seizures ESSO:Febrile_Seizures_Plus_FS D0000545 Engel 2001 Generalized Epilepsies with Febrile Seizures Plus Syndromes in development ILAE 2010 Febrile Seizures Plus (FS+) Can start in infancy ESSO:Female D0000546 ESSO:Fever-Induced_Refractory_Epileptic_Encephalopathy_in_School-Aged_Children_FIRES D0000547 Suleiman 2013 Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES). ESSO:Focal_Cortical_Dysplasia D0000548 Engel 2001 Focal or multifocal cortical dysplasia ESSO:Focal_Heterotopia D0000549 Engel 2001 Focal heterotopia ESSO:Folic_Acid_Disorder D0000550 Engel 2001 DIsorders of folic acid and B12 metabolism ESSO:Fragile_X_Syndrome D0000552 Engel 2001 Fragile X syndrome ESSO:Frontal_Lobe_Epilepsy D0000554 ILAE 1989 Frontal lobe epilepsies
 Frontal lobe epilepsies are characterized by simple partial, complex partial, secondarily generalized seizures or combinations of these. Seizures often occur several times a day and frequently occur during sleep. Frontal lobe partial seizures are sometimes mistaken for psychogenic seizures. Status epilepticus is a frequent complication. General characteristics Features strongly suggestive of the diagnosis include: 1. Generally short seizures. 2. Complex partial seizures arising from the frontal lobe, often with minimal or no postictal 
confusion. 3. Rapid secondary generalization (more common in seizures of frontal than of temporal lobe epilepsy). 4. Prominent motor manifestations which are tonic or postural. 5. Complex gestural automatisms frequent at onset. 6. Frequent falling when the discharge is bilateral. A number of seizure types are described below; however, multiple frontal areas may be involved rapidly and specific seizure types may not be discernible. ESSO:Fructose_1-6_Diphosphatase_Deficiency D0000556 Engel 2001 Fructose 1-6 diphsphatase deficiency ESSO:Fumarase_Deficiency D0000557 Engel 2001 Fumarase deficiency ESSO:Gastaut_Syndrome D0000563 ESSO:Gaucher_Disease D0000564 ESSO:Gaucher_Disease_Juvenile_Form D0000565 ILAE 1989 A juvenile form of Gaucher disease is marked by onset at ~6-8 years of age, with epileptic seizures of various types, most commonly GTCS or partial motor. The EEG shows progressive deterioration of background activity, abnormal photic response, diffuse paroxysmal abnormalities, and multifocal abnormalities with a clear posterior predominance. ESSO:Gelastic_Seizures_with_Hypothalamic_Hamartoma D0000566 ILAE 2010 Gelastic Seizures with Hypothalamic Hamartoma ESSO:Genetic_Disease D0000569 Scheuermann 2009 Genetic Disorder: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism’s genome. Scheuermann 2009 Genetic Predisposition to Disease of Type X: A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism’s genome. This abnormality is the physical basis for the increased risk of acquiring disease X. Examples: p53 mutation in Li-Fraumeni Syndrome predisposing to cancer; ApoE alleles predisposing to Alzheimer’s disease. ESSO:Glucose_Transport_Protein_Deficiency D0000570 Engel 2001 Glucose transport protein deficiency ESSO:Glycogen-Storage_Disorder D0000571 Engel 2001 Glycogen-storage disorders ESSO:Hemiconvulsion-Hemiplegia-Epilepsy D0000578 ILAE 2010 Hemiconvulsion-Hemiplegia-Epilepsy ESSO:Hemiconvulsion-Hemiplegia_Epilepsy_Syndrome D0000577 Engel 2001 Hemiconvulsion-Hemiplegia Epilepsy (HHE) Syndrome ESSO:Hypermelanosis_of_Ito D0000582 ESSO:Immediate_Post_Cerebral_Insult_Seizure D0000589 Engel 2001 Immediate and early post cerebral insult seizures ESSO:Immediate_Posttraumatic_Seizure D0000590 Engel 2001 Immediate and early posttraumatic seizures ESSO:Impulsive_Petit_Mal D0000592 ESSO:Infantile_Spasm_Cryptogenic_Group D0000595 ESSO:Infantile_Spasm_Symptomatic_Group D0000596 ESSO:Infantile_Spasms D0000597 ILAE 1989 West Syndrome Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids. West syndrome ESSO:Infectious_Disease D0000599 Scheuermann 2009 Infectious Disorder: A disorder whose etiology includes the presence of a pathogenic organism within a host organism or an abnormal imbalance in the normal resident organismal flora. Infectious Disease: A disease whose physical basis is an infectious disorder. Examples: transient: seasonal flu; chronic: genital herpes; progressive: Ebola hemorrhagic fever. Secondary Infection =def. – A disorder consisting in the presence of a pathogenic organism within a host organism that occurs due to the disposition established by a prior infection with a pathogenic organism of a different kind (e.g. cryptosporidiosis in a patient suffering from AIDS). ESSO:Inherited_Metabolic_Disorder D0000604 ESSO:Isolated_Lissencephaly_Sequence D0000609 Engel 2001 Isolated lissencephaly sequence ESSO:Jansky_Bielschoski_Disease D0000610 ILAE 1989 Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate ESSO:Janz_Syndrome D0000611 ESSO:Juvenile_Absence_Epilepsy_JAE D0000612 ILAE 1989 Juvenile Absence Epilepsy The absences of juvenile absence epilepsy are the same as in pyknolepsy, but absences with retropulsive movements are less common. Manifestation occurs around puberty. Seizure frequency is lower than in pyknolepsy, with absences occurring less frequently than every day, mostly sporadically. Association with GTCS is frequent, and GTCS precede the absence manifestations more often than in childhood absence epilepsy, often occurring on awakening. Not infrequently, the patients also have myoclonic seizures. Sex distribution is equal. The spike-waves are often >3 Hz. Response to therapy is excellent. Engel 2001 Juvenile Absence Epilepsy ILAE 2010 Juvenile Absence Epilepsy ESSO:Juvenile_Myoclonic_Epilepsy_JME D0000613 ILAE 1989 Impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms. Jerks may cause some patients to fall suddenly. No disturbance of consciousness is noticeable. The disorder may be inherited, and sex distribution is equal. Often, there are GTCS and, less often, infrequent absences. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation. Interictal and ictal EEG have rapid, generalized, often irregular spike-waves and polyspike-waves; there is no close phase correlation between EEG spikes and jerks. Frequently, the patients are photosensitive. Response to appropriate drugs is good. Juvenile myoclonic epilepsy is known to be subject to an elevated risk of seizures for several decades, but remissions do still occur. Engel 2001 Juvenile Myoclonic Epilepsy ESSO:Kojewnikows_Syndrome D0000618 ILAE 1989 Kojewnikow’s syndrome. Two types of Kojewnikow’s syndrome are recognized, one of which is also known as Rasmussen’s syndrome and is included among the epileptic syndromes of childhood noted under symptomatic seizures. The other type represents a particular form of rolandic partial epilepsy in both adults and children and is related to a variable lesion of the motor cortex. Its principal features are (a) motor partial seizures, always well localized; (b) often late appearance of myoclonus in the same site where somatomotor seizures occur; (c) an EEG with normal background activity and a focal paroxysmal abnormality (spikes and slow waves); (d) occurrence at any age in childhood and adulthood; (e) frequently demonstrable etiology (tumor, vascular); and (f) no progressive evolution of the syndrome (clinical, electroencephalographic or psychological, except in relation to the evolution of the causal lesion). This condition may result from mitochondrialencephalopathy (MELAS). NOTE: Anatomical origins of some epilepsies are difficult to assign to specific lobes. Such epilepsies include those with pre- and postcentral symptomatology (perirolandic seizures). Such overlap to adjacent anatomic regions also occurs in opercular epilepsy. In frontal lobe epilepsies, the interictal scalp recordings may show (a) no abnormality; (b) sometimes background asymmetry, frontal spikes or sharp waves; or (c) sharp waves or slow waves (either unilateral or frequently bilateral or unilateral multilobar). Intracranial recordings can sometimes distinguish unilateral from bilateral involvement. In frontal lobe seizures, various EEG patterns can accompany the initial clinical symptomatology. Uncommonly, the EEG abnormality precedes the seizure onset and then provides important localizing information, such as: (a) frontal or multilobar, often bilateral, low-amplitude fast activity, mixed spikes, rhythmic spikes, rhythmic spike waves, or rhythmic slow waves; or (b) bilateral high amplitude single sharp waves followed by diffuse flattening. Depending on the methodology, intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges; localization may be difficult. ESSO:Krabbe_Disease D0000619 Engel 2001 Krabbe Disease ESSO:Lactate_Metabolism_Abnormality D0000620 ESSO:Lafora_Disease D0000622 Engel 2001 Lafora Disease ESSO:Lafora_disease D0000621 Onset of Lafora disease occurs between the ages of 6 and 19 years (mean 11.5 years) and is characterized by generalized clonic, GTCS, with a frequent association of partial seizures with visual symptomatology, constant myoclonic jerks (fragmentary, segmental, and massive myoclonus), and rapidly progressive mental deterioration. The EEG shows discharges of fast spike-waves and poly- spike-waves, photosensitivity, deterioration of background activity, and the appearance of multi-focal abnormalities, particularly posteriorly. On the average, death occurs 5.5 years after onset. ESSO:Landau-Kleffner_Syndrome_LKS D0000623 Engel 2001 Landau-Kleffner Syndrome ILAE 2010 Landau-Kleffner Syndrome (LKS) Fischer 2014 continuous spike and waves during sleep and the Landau-Kleffner Syndrome ESSO:Late-Onset_Childhood_Occipital_Epilepsy-Gastaut_Type D0000626 Engel 2001 Late Onset Childhood Occipital Epilepsy - Gastaut Type ILAE 2010 Late Onset Childhood Occipital Epilepsy Gastaut Type Engel 2001 Late-Onset Childhood Occipital Epilepsy (Gastaut Type) ESSO:Late_Infantile_Ceroid-Lipofuscinoisis D0000843 ILAE 1989 Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate ESSO:Late_Onset_Occipital_Epilepsy D0000625 ESSO:Lateral_Temporal_Seizures D0000629 ILAE 1989 Lateral temporal seizures. Simple seizures characterized by auditory hallucinations or illusions or dreamy states, visual misperceptions, or language disorders in case of language dominant hemisphere focus. These may progress to complex partial seizures if propagation to mesial temporal or extratemporal structures occur. The scalp EEG shows unilateral or bilateral midtemporal or posterior temporal spikes which are most prominent in the lateral derivations. ESSO:Left_Mesial_Temporal_Lobe_Epilepsy D0000631 ESSO:Lennox-Gastaut_Syndrome_LGS D0000633 ILAE 1989 Lennox-Gastaut Syndrome (LGS) Lennox-Gastaut syndrome manifests itself in children aged 1-8 years, but appears mainly in pre-school-age children. The most common seizure types are tonic-axial, atonic, and absence seizures, but other types such as myoclonic, GTCS, or partial are frequently associated with this syndrome. Seizure frequency is high, and status epilepticus is frequent (stuporous states with myoclonias, tonic, and atonic seizures). The EEG usually has abnormal background activity, slow spike-waves <3Hz and, often, multifocal abnormalities. During sleep, bursts of fast rhythms (~10 Hz) appear. In general, there is mental retardation. Seizures are difficult to control, and the development is mostly unfavorable. In 60% of cases, the syndrome occurs in children suffering from a previous encephalopathy, but is primary in other cases. Engel 2001 Lennox-Gastaut Syndrome ILAE 2010 Lennox-Gastaut Syndrome (LGS) ESSO:Limbic_Encephalitis_with_Negative_Antibodies D0000634 Suleiman 2013 ESSO:Limbic_Epilepsy D0000635 Engel 2001 Limbic epilepsies ESSO:Lingual_Epilepsy D0000636 ESSO:Male D0000643 ESSO:Maple_Syrup_Urine_Disease D0000645 2001 Engel Maple syrup urine disease ESSO:Mesial_Temporal_Lobe_Epilepsy D0000649 ESSO:Mesial_Temporal_Lobe_Epilepsy_Defined_By_Specific_Etiology D0000650 Engel 2001 Mesial Temporal Lobe Epilepsy defined by sepcific etiologies ESSO:Mesial_Temporal_Lobe_Epilepsy_With_Hippocampal_Sclerosis D0000651 Engel 2001 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis ESSO:Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis_MTLE_with_HS D0000652 ILAE 2010 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis ESSO:Mesiobasal_Limbic_Seizures D0000653 ESSO:Metabolic_Proven_or_Suspected_Inborn_Errors_of D0000655 ESSO:Microdysgenesis D0000656 Engel 2001 Microdysgenesis ESSO:Migrating_Focal_Seizures_of_Infancy D0000660 ESSO:Migrating_Partial_Seizures_Of_Early_Infancy D0000661 Engel 2001 Migrating Partial Seizures of Early Infancy Syndromes in development ESSO:Migrating_Partial_Seizures_of_Epilepsy D0000662 Engel 2001 Migrating Partial Seizures of Infancy Syndromes in development ESSO:Miller-Dieker_Syndrome D0000663 Engel 2001 Miller-Dieker syndrome ESSO:Mitochondrial_Disease D0000644 Engel 2001 Mitochondrial diseases ESSO:Mitochondrial_Encephalomyopathy_Lactic_Acidosis_and_Stroke-Like_Symptoms_MELAS D0000665 Engel 2001 MELAS ESSO:Mitochondrial_Encephalopathy_MELAS D0000666 ESSO:Mitochondrial_Myopathy D0000668 ILAE 1989 A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980). ESSO:Monogenic_Mendelian_Disease_with_Complex_Pathogenic_Mechanism D0000669 ESSO:Motor_Cortex_Seizure D0000670 ILAE 1989 Motor cortex. Motor cortex epilepsies are mainly characterized by simple partial seizures, and their localization depends on the side and topography of the area involved. In cases of the lower prerolandic area there may be speech arrest, vocalization or dysphasia, tonic-clonic movements of the face on the contralateral side, or swallowing. Generalization of the seizure frequently occurs. In the rolandic area, partial motor seizures without march or jacksonian seizures occur, particularly beginning in the contralateral upper extremities. In the case of seizures involving the paracentral lobule, tonic movements of the ipsilateral foot may occur as well as the expected contralateral leg movements. Postictal or Todd’s paralysis is frequent. ESSO:Multifocal_Cortical_Dysplasia D0000674 Engel 2001 Focal or multifocal cortical dysplasia ESSO:Multiple_Sclerosis D0000675 ESSO:Myasthenia_Gravis D0000676 Suleiman 2013 ESSO:Myoclonic_Absence_Seizure D0000677 Engel 2001 Myoclonic Absence Seizures ESSO:Myoclonic_Astatic_Epilepsy D0000678 Engel 2001 Epilepsy with myoclonic astatic seizures ESSO:Myoclonic_Astatic_Petit_Mal D0000679 ESSO:Myoclonic_Atonic_Epilepsy D0000680 Engel 2001 Myoclonic Atonic Seizures ILAE 2010 Myoclonic Atonic Epilepsy ESSO:Myoclonic_Encephalopathy D0000681 ESSO:Myoclonic_Encephalopathy_in_Nonprogressive_Disorders D0000682 ILAE 2010 Myoclonic Encephalopathy in Nonprogressive Disorders ESSO:Myoclonic_Epilepsy_in_Infancy_MEI D0000683 ILAE 2010 Myoclonic Epilepsy in Infancy (MEI) ESSO:Myoclonic_Status_In_Nonprogressive_Encephalopathies D0000684 Engel 2001 Myoclonic Status in Nonprogressive Encephalopathies Syndromes in development ESSO:Myoclonus_Epilepsy_With_Ragged_Red_Fibers_MERRF D0000685 Engel 2001 MERRF ESSO:N-Methyl-D-Aspartate_Receptor_NMDAR_Encephalitis D0000686 Suleiman 2013 N-methyl-D-aspartate receptor (NMDAR) encephalitis in which 76–83% of patients will have focal, focal dyscognitive, or generalized seizures (Dalmau et al., 2007, 2008, 2011; Irani & Vincent, 2011) NMDAR encephalitis is well described (Florance et al., 2009) ESSO:Neonatal_Seizures D0000688 ILAE 1989 Neonatal seizures Neonatal seizures differ from those of older children and adults. The most frequent neonatal seizures are described as subtle because the clinical manifestations are frequently overlooked. These include tonic, horizontal deviation of the eyes with or without jerking, eyelid blinking or fluttering, sucking, smacking, or other buccal-lingual oral movements, swimming or pedaling movements and, occasionally, apneic spells. Other neonatal seizures occur as tonic extension of the limbs, mimicking decerebrate or decorticate posturing. These occur particularly in premature infants. Multifocal clonic seizures characterized by clonic movements of a limb, which may migrate to other body parts or other limbs, or focal clonic seizures, which are much more localized, may occur. In the latter, the infant is usually not unconscious. Rarely, myoclonic seizures may occur, and the EEG pattern is frequently that of suppression-burst activity. The tonic seizures have a poor prognosis because they frequently accompany intraventricular hemorrhage. The myoclonic seizures also have a poor prognosis because they are frequently a part of the early myoclonic encephalopathy syndrome. ESSO:Neuroaxonal_Dystrophy D0000690 Engel 2001 Neuroaxonal Dystrophy ESSO:Neurocutaneous_Disorder D0000691 ESSO:Neurofibromatosis D0000692 Engel 2001 Neurofibromatosis ESSO:Neurofibromatosis_1 D0000693 Engel 2001 Neurofibromatosis ESSO:Neurofibromatosis_2 D0000694 Engel 2001 Neurofibromatosis ESSO:Neuronal_Surface_Antibody_Syndromes D0000695 ESSO:Nonketotic_Hyperglycinemia D0000697 Engel 2001 Nonketotic hyperglycinemia ESSO:Northern_Epilepsy_Syndrome D0000698 ESSO:Occipital_Lobe_Epilepsy D0000700 ILAE 1989 Occipital Lobe Epilepsy ESSO:Ohtahara_Syndrome D0000701 Engel 2001 Ohtahara Syndrome ILAE 2010 Ohtahara Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early. NOTE Ohtahara syndrome is considered an 'epileptic encephalopathy'. This term denotes the concept that the epileptic activity itself might directly contribute additional cognitive and behavioral impairments over those expected from the underlying etiology alone, and that suppression of epileptic activity might minimize this additional impairment. ESSO:Oligoepilepsy D0000702 Engel 2001 Oligoepilepsy Fischer 2014 Therefore, epilepsy could be considered present if an unprovoked seizure occurred at age 1 and at age 80, a condition sometimes referred to as oligoepilepsy. ESSO:Opercular_Seizure D0000704 ILAE 1989 Opercular. Opercular seizure characteristics include mastication, salivation, swallowing, laryngeal symptoms, speech arrest, epigastric aura, fear, and autonomic phenomena. Simple partial seizures, particularly partial clonic facial seizures, are common and may be ipsilateral. If secondary sensory changes occur, numbness may be a symptom, particularly in the hands. Gustatory hallucinations are particularly common in this area. ESSO:Orbitofrontal_Seizure D0000707 ILAE 1989 Orbitofrontal. The orbitofrontal seizure pattern is one of complex partial seizures with initial motor and gestural automatisms, olfactory hallucinations and illusions, and autonomic signs. ESSO:Other_Familial_Temporal_Lobe_Epilepsies D0000709 ESSO:Other_Organic_Aciduria D0000710 Engel 2001 Other organic acidurias ESSO:Panyiotopolous_Syndrome D0000711 ESSO:Parietal_Lobe_Epilepsy D0000718 ILAE 1989 Parietal lobe epilepsies
 Partial lobe epilepsy syndromes are usually characterized by simple partial and secondarily generalized seizures. Most seizures arising in the parietal lobe remain as simple partial seizures, but complex partial seizures may arise out of simple partial seizures and occur with spread beyond the parietal lobe. Seizures arising from the parietal lobe have the following features: Seizures are predominantly sensory with many characteristics. Positive phenomena consist of tingling and a feeling of electricity, which may be confined or may spread in a Jacksonian manner. There may be a desire to move a body part or a sensation as if a part were being moved. Muscle tone may be lost. The parts most frequently involved are those with the largest cortical representation (e.g., the hand, arm, and face). There may be tongue sensations of crawling, stiffness, or coldness, and facial sensory phenomena may occur bilaterally. Occasionally, an intraabdominal sensation of sinking, choking, or nausea may occur, particularly in cases of inferior and lateral parietal lobe involvement. Rarely, there may be pain, which may take the form of a superficial burning dysesthesia, or a vague, very severe, painful sensation. Parietal lobe visual phenomena may occur as hallucinations of a formed variety. Metamorphopsia with distortions, foreshortenings, and elongations may occur, and are more frequently observed in cases of nondominant hemisphere discharges. Negative phenomena include numbness, a feeling that a body part is absent, and a loss of awareness of a part or a half of the body, known as asomatognosia. This is particularly the case with nondominant hemisphere involvement. Severe vertigo or disorientation in space may be indicative of inferior parietal lobe seizures. Seizures in the dominant parietal lobe result in a variety of receptive or conductive languages disturbances. Some well-lateralized genital sensations may occur with paracentral involvement. Some rotatory or postural motor phenomena may occur. Seizures of the paracentral lobule have a tendency to become secondarily generalized. ESSO:Periventricular_Nodular_Heterotopia D0000719 Engel 2001 Periventricular nodular heterotopia ESSO:Peroxisomal_Disorder D0000720 Engel 2001 Peroxisomal disorders ESSO:Phakomatoses D0000721 ESSO:Phenylketonuria D0000722 2001 Engel Phenylketonuria ESSO:Posttraumatic_Seizure D0000732 Engel 2001 Immediate and early posttraumatic seizures ESSO:Primary_Reading_Epilepsy D0000741 ILAE 1989 Primary reading epilepsy All or almost all seizures in this syndrome are precipitated by reading (especially aloud) and are independent of the content of the text. They are simple partial motor-involving masticatory muscles, or visual, and if the stimulus is not interrupted, GTCs may occur. The syndrome may be inherited. Onset is typically in late puberty and the course is benign with little tendency to spontaneous seizures. Physical examination and imaging studies are normal but EEG shows spikes or spike-waves in the dominant parieto-temporal region. Generalized spike and wave may also occur. Engel 2001 Primary Reading Epilepsy ESSO:Progressive_Myoclonic_Epilepsy_PME D0000746 Engel 2001 Progressive Myoclonus Epilepsies ILAE 2010 Progressive Myoclonus Epilepsies (PME) ESSO:Propionic_Acidemia D0000747 Engel 2001 Propionic acidemia ESSO:Pyknolepsy D0000749 ESSO:Pyridoxine_Dependency D0000750 ILAE 1989 Pyridoxine dependency is manifested by seizures that have no suggestive characteristics, but this condition must always be suspected since therapeutic intervention is possible. Engel 2001 Pyridoxine dependency ESSO:Pyruvate_Dehydrogenase_Deficiency D0000751 Engel 2001 Pyruvate dehydrogenase deficiency ESSO:Pyruvate_Metabolism_Abnormality D0000752 ESSO:Ramsay-Hunt_Like_Syndrome D0000754 ILAE 1989 A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980). ESSO:Ramsay-Hunt_Syndrome D0000755 ESSO:Ramsay_Hunt_Syndrome_I D0000753 ILAE 1989 Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions. ESSO:Rasmussen_Syndrome D0000756 Engel 2001 Rasmussen Syndrome ESSO:Rasmussens_Syndrome D0000757 ILAE 1989 Rasmussen's Syndrome ESSO:Reflex_Epilepsy D0000759 Bancaud 1981 Reflex Seizure ILAE 1989 Reflex Epilepsy Blume 2001 Reflex: Objectively and consistently demonstrated to be evoked by a specific afferent stimulus or by activity of the patient. Afferent stimuli can be elementary [i.e., unstructured (light flashes, startle, a monotone)] or elaborate [i.e., structured, (a symphony)]. Activity may be elementary [e.g., motor (a movement)]; or elaborate [e.g., cognitive function (reading, chess playing)], or both (reading aloud). Engel 2001 Reflex Epilepsies Reflex epilepsy syndrome: A syndrome in which all epileptic seizures are precipitated by sensory stimuli. Reflex seizures that occur in focal and generalized epilepsy syndromes that are also associated with spontaneous seizures are listed as seizure types. Isolated reflex seizures can also occur in situations that do not necessarily require a diagnosis of epilepsy. Seizures precipitated by other special circumstances, such as fever or alcohol withdrawal, are not reflex seizures (changed concept). ILAE 2010 Reflex Epilepsy ESSO:Respiratory_Chain_Defect D0000760 Engel 2001 Respiratory chain defects ESSO:Rett_Syndrome D0000761 Engel 2001 Rett syndrome ESSO:Rhinoencephalic_Seizures D0000762 ESSO:Right_Frontal_Epilepsy D0000764 ESSO:Rolandic_Epilepsy D0000767 ESSO:Rolandic_Partial_Epilepsy D0000768 ILAE 1989 Rolandic Partial Epilepsy ESSO:Sandhoff_Disease D0000769 ILAE 1989 Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms. ESSO:Sanfilippo_Syndrome D0000770 Engel 2001 Sanfilippo syndrome ESSO:Schizencephaly D0000771 Engel 2001 Schizencephalies ESSO:Severe_Myoclonic_Epilepsy_in_Infancy D0000778 ILAE 1989 Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy is a recently defined syndrome. The characteristics include a family history of epilepsy or febrile convulsions, normal development before onset, seizures beginning during the first year of life in the form of generalized or unilateral febrile clonic seizures, secondary appearance of myoclonic jerks, and often partial seizures. EEGs show generalized spike-waves and polyspike-waves, early photosensitivity, and focal abnormalities. Psychomotor development is retarded from the second year of life on, and ataxia, pyramidal signs, and interictal myoclonus appear. This type of epilepsy is very resistant to all forms of treatment. ESSO:Sex D0000779 By most appropriate genetic designation (e.g. XX, XY, etc). ESSO:Sialidosis D0000780 Engel 2001 Sialidosis ESSO:Sialidosis_with_Isolated_Deficit_in_Neuroamidinase D0000781 The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity ESSO:Sturge-Weber_Syndrome D0000797 ILAE 1989 The individual phacomatoses have no typical electroclinical pattern. We emphasize that West syndrome is frequent in tuberous sclerosis, and that generalized and partial seizures may follow the otherwise typical course of infantile spasms. Sturge-Weber syndrome is a frequent cause of simple partial seizures followed by hemiparesis. Engel 2001 Sturge-Weber syndrome ESSO:Subcortical_Band_Heterotopia D0000792 Engel 2001 Subcortical band heterotopia ESSO:Sulphite-Oxidase_Deficiency D0000793 Engel 2001 Sulphite-Oxidase Deficiency ESSO:Supplementary_Motor_Seizures D0000800 ILAE 1989 Supplementary motor seizures. In supplementary motor seizures, the seizure patterns are postural, focal tonic, with vocalization, speech arrest, and fencing postures. ESSO:Sylvian_Seizures D0000803 ESSO:Systemic_Lupus_Erythematosus D0000804 ESSO:Tay-Sachs_Disease D0000806 ILAE 1989 Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms. ESSO:Temporal_Lobe_Epilepsy D0000810 1989 ILAE Temporal Lobe Epilepsy Temporal lobe syndromes are characterized by simple partial seizures, complex partial seizures, and secondarily generalized seizures, or combinations of these. Frequently, there is a history of febrile seizures, and a family history of seizures is common. Memory deficits may occur. On metabolic imaging studies, hypometabolism is frequently observed [e.g., positron emission tomography (PET)]. Unilateral or bilateral temporal lobe spikes are common on EEG. Onset is frequently in childhood or young adulthood. Seizures occur in clusters at intervals or randomly. General characteristics Features strongly suggestive of the diagnosis when present include: 1. Simple partial seizures typically characterized by autonomic and/or psychic symptoms and certain sensory phenomena such as olfactory and auditory (including illusions). Most common is an epigastric, often rising, sensation. 2. Complex partial seizures often but not always beginning with motor arrest typically followed by oroalimentary automatism. Other automatisms frequently follow. The duration is typically >1 min. Postictal confusion usually occurs. The attacks are followed by amnesia. Recovery is gradual. Electroencephalographic characteristics In temporal lobe epilepsies the interictal scalp EEG may show the following: 1. No abnormality.
 2. Slight or marked asymmetry of the background activity.
 3. Temporal spikes, sharp waves and/or slow waves, unilateral or bilateral, synchronous but also asynchronous. These findings are not always confined to the temporal region. 4. In addition to scalp EEG findings, intracranial recordings may allow better definition of the intracranial distribution of the interictal abnormalities. In temporal lobe epilepsies various EEG patterns may accompany the initial clinical ictal symptomatology, including (a) a unilateral or bilateral interruption of background activity; and (b) temporal or multilobar low-amplitude fast activity, rhythmic spikes, or rhythmic slow waves. The onset of the EEG may not correlate with the clinical onset depending on methodology. Intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges. ESSO:Tuberous_Sclerosis_Complex D0000814 Engel 2001 Tuberous sclerosis complex ESSO:Typical_Absence_Epilepsy D0000815 ESSO:Unclassified_Epilepsy_Syndrome D0000838 Bancaud 1981 This category includes all seizures that cannot be classified because of inadequate or incomplete data and includes some seizures that by their natures defy classification in the previously defined broad categories. Many seizures occurring in the infant (e.g., rhythmic eye movements, chewing, swimming movements, jittering, and apnea) will be classified here until such time as further experience with video-tape confirmation and electroencephalographic characterization entitles them to subtyping in the extant classification. D0000816 ESSO:Unilateral_Polymicrogyria D0000817 Engel 2001 Unilateral polymicrogyria ESSO:Unverricht-Lundborg_Disease D0000819 Engel 2001 Unverricht-Lundborg Disease ESSO:Urea_Cycle_Disorder D0000837 Engel 2001 Urea Cycle Disorders ESSO:Voltage_Gated_Potassium_Channel_VGKC_Encephalitis D0000825 Suleiman 2013 Voltage-gated potassium channel (VGKC)-complex antibody associated autoimmune limbic encephalitis (including leucine rich glioma inactivated 1 [LGI1] and contactin-associated protein-like 2 [CASPR2] antibodies) in which patients often have temporal lobe seizures (Irani et al., 2010; Lai et al., 2010) ESSO:West_Syndrome D0000836 ILAE 1989 West Syndrome Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids. Engel 2001 West Syndrome ILAE 2010 West Syndrome ESSO:X-Linked_Lissencephaly D0000830 Engel 2001 X-linked lissencephaly ESSO:current_adolescent_12_18_yrs D0000355 Bancaud 1981 Puberty SIGN 2005 Berg 2010 Blume 2001 Berg 2010 ESSO:current_adult_19_to_60_yrs D0000356 Bancaud 1981 Adult Life ESSO:current_child_1_to_11_yrs D0000479 Bancaud 1981 Childhood Blume 2001 Berg 2010 ESSO:current_elderly_greater_than_60_yrs D0000523 Blume 2003 Berg 2010 ESSO:current_infant_1_to_12_months D0000594 Blume 2001 Berg 2010 ESSO:current_neonate_birth_to_1_month D0000689 Berg 2010 <= 1Month or 44 weeks gestation ESSO:disease D0000501 Scheuermann 2009 Disease A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. Diseases as dispositions rooted in physical disorders in the organism and realized in pathological processes. (1) to the existence of pre-clinical manifestations of disease (disorders can exist before they are realized in overt pathological processes); (2) to the combinations of disease and predispositions to disease which can exist within a single patient (as when an instance of disease of type A in a given patient is a risk factor for a second disease of type B); and (3) to the fact that the disease course and the clinical picture may vary widely between patients who have the same disease. Disorder A causally relatively isolated combination of physical components that is (a) clinically abnormal and (b) maximal, in the sense that it is not a part of some larger such combination. Such disorders are the physical basis of disease. A disease comes into existence because some physical component becomes malformed. ESSO:epidemiologic_factor D0000526 ESSO:epilepsy_syndrome D0000841 This is a list of epilepsy syndromes (cited epilepsy syndromes 1989-2014) ILAE 1989 An epileptic syndrome is an epileptic disorder characterized by a cluster of signs and symptoms customarily occurring together; these include such items as type of seizure, etiology, anatomy, precipitating factors, age of onset, severity, chronicity, diurnal and circadian cycling, and sometimes prognosis. However, in contradistinction to a disease, a syndrome does not necessarily have a common etiology and prognosis. Engel 2006 Epilepsy syndrome: A complex of signs and symptoms that define a unique epilepsy condition with different etiologies. This must involve more than just the seizure type; thus frontal lobe seizures per se, for instance, do not constitute a syndrome (changed concept). Fischer 2014 epilepsy syndrome D0000361 D0000362 D0000573 Suleiman 2013 Graves’ disease is an antibody mediated autoimmune disorder and juvenile myoclonic epilepsy (JME) has been previously associated with Grave’s disease, and may be due to thyroxine causing a lower seizure threshold (Su et al., 1993). Our case 11 was diagnosed to have an idiopathic myoclonic epilepsy (JME) based on her age, seizure phenotype, and EEG abnormality. JME is considered to be a genetic epilepsy, and indeed in this case there was limited evidence that the epilepsy was autoimmune despite the presence of other autoimmune diseases, and her classification was “unknown” as she was negative for NSAbs and received no immunotherapy. D0000575 Suleiman 2013 Seizures can occur in Hashimoto’s encephalopathy, which is a rare association of autoimmune Hashimoto’s thyroiditis associated with Abs against thyroid peroxidase and thyroglobulin (Castillo et al., 2006). Patients described with Hashimoto encephalopathy present with broad clinical manifestations and are classically reported to be steroid responsive. The role of thyroid antibodies in Hashimoto encephalopathy is uncertain, and the term “steroid responsive encephalopathy associated with autoimmune thyroiditis” (SREAT) has been used to reflect the hypothesis that Hashimoto encephalopathy may be caused by unidentified neuronal autoantibodies (Castillo et al., 2002; Schauble et al., 2003). D0000580 Engel 2001 Huntington disease D0000581 ILAE 1989 An infantile type of Huntington’s disease appears after age 3 years, with a slowing of mental development, followed by dystonia, GTCS, atypical absence seizures, and myoclonic seizures. The EEG shows discharges of generalized spike-waves and polyspike-waves, with the usual photic stimulation rate. Engel 2001 Huntington disease D0000647 Engel 2001 Menkes' Disease C0000000