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.
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)
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.
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.
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).
A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation.
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.
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
A small reactive pupil. The miosis is caused by interruption of sympathetic tone.
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
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.
Bone conduction better than air conduction.
Air conduction better than bone conduction.
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.
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.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen
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.
An anomaly in the ability to discriminate between or recognize colors.
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.
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
A finding indicating the complete absence of neurological reflexes
absent_radial_reflex; absent_brachioradialis_reflex
Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
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
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
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.
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.
The inability to recognize letters or numbers traced on the palm of the hand despite adequate sensation.
A disorder characterized by an uncomfortable feeling of inner restlessness and inability to stay still; this is a side effect of some psychotropic drugs.
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.
An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
Allodynia is the elicitation of pain by stimuli that are normally not painful.
A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition
absence of menses for three months or more.
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.
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, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
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.
A language dysfunction characterized by the inability to name people and objects that are correctly perceived.
clinical manifestation consisting of a physiopathological lack or loss of appetite accompanied by an aversion to food and the inability to eat.
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.
A condition in which a person who suffers illness or disability seems unaware of or denies the existence of the illness or disabilit
Lack of emotion or emotional expression; a disorder of motivation that persists over time.
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
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.
loss of ability to perform familiar, purposeful movements in the absence of paralysis or other neural sensorimotor impairment.
A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
Ataxia is the presence of uncoordinated, imprecise, and inaccurate movements. Ataxia is the cardinal sign of cerebellar disease.
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.
A movement disorder consisting of slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs.
Perception of sound in the absence of a corresponding stimulus.
Automatic, mechanical, and apparently undirected behavior which is outside of conscious control.
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
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.
A disorder characterized by visual perception of unclear or fuzzy images.
Abnormal slowness of movement, which is often a symptom of neurological disorders, particularly Parkinson's disease.
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.
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 radial reflex; brisk brachioradialis reflex
A sensation of intensley hot or searing discomfort.
Shoulder shrug is generally considered an action of the trapezius muscle, although the levator scapulae contributes to this action.
A carotid bruit is a vascular murmur sound (bruit) heard over the carotid artery area on auscultation during systole.
transient attack of weakness precipitated by emotional excitement; patient falls as if struck down.
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.
Reduced muscle tone secondary to an abnormality of the central nervous system
An area of depressed vision located at the point of fixation and that interferes with central vision.
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 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).
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.
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
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.
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.
Movements that are imprecise or inaccurate.
Diminished or impaired mental and/or intellectual function
Symptoms related to cognitive behavior such as language, memory, reasoning, abstract thought, and visual spatial manipulations.
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).
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
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.
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.
An inability to comprehend emotion as conveyed by the prosody of speech.
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.
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.
A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation
confusional_state; dazed; muddled; clouded_consciousness
A group of symptoms that affect an individual's general well being. Representative examples include fever, chills, fatigue, weakness, and weight loss.
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 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.
Coordination is the ability to perform complex movements precisely and accurately.
Involuntary and repetitive utterances of obscene or socially inappropriate words or statements.
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.
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
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.
The twelfth cranial nerve is purely motor and supplies the tongue.
twelfth_cranial_nerve_finding; hypoglossal_nerve_finding
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
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.
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.
Deficits that arise from dysfunction of one of the twelve cranial nerves.
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).
lack or significant deficiency of the sense of hearing.
decreased_Achilles_reflex; decreased_ankle_jerk
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_patellar_reflex; decreased_knee_jerk, decreased_quadriceps_reflex
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.
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty
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.
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.
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.
Loss of developmental skills, as manifested by loss of developmental milestones.
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing
A slowness in initiating movements generally suggests a frontal lobe lesion damaging circuits involved in movement initiation.
Paralysis affecting corresponding parts on both sides of the body.
paralysis_of_both_arms; unable_to_move_both_arms
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Reduced strength of the musculature of the distal extremities
An abnormal reduction in sensation in the distal portions of the extremities.
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 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.
The sensation of struggling to remain awake.
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.
imperfect speech articulation due to disturbances of muscular control.
Dysdiadochokinesia is the inability to rapidly perform alternating movements such as having a subject pronating and supinating their hands.
dysdiadochokokinesia: impaired_rapid_alternating_movements
Abnormal sensations with no apparent physical cause that are painful or unpleasant.
a disease characterized by abnormal involuntary movements of muscles
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.
A disorder characterized by difficulty in swallowing.
A speech disorder in which the melody and rhythm of speeech fails to correctly convey the intended emotion of the speaker.
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.
syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions; frequently causing twisting, flexing or extending, and squeezing movements or abnormal postures.
The tendency to repeat vocalizations made by another person.
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Nystagmus made apparent by looking to the right or to the left.
pathologic process affecting the voluntary or reflex-controlled movements of the eye.
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Loss of sensation to temperature, pin prick, or touch on the face.
Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
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 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.
A sudden movement downward, usually resulting in injury
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.
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.
Feeling of dread or distress whose cause can be identified
An inability or difficulty differentiating among the fingers of either hand as well as the hands of others
lower_motor_neuron_type_dysarthria; bulbar_type_dysarthria
flaccidity; flaccid_tone; flaccid_muscle_tone
Rapid succession of thoughts pertaining to different subjects that are still connected.
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.
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.
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk
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.
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
A form of disorientation where the person loses their way and is unable to get to their destination.
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.
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.
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions.
A general term for the complete or partial loss of the ability to hear from one or both ears.
Partial or complete loss of vision in one half of the visual field of one or both eyes.
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.
A lack of sweating on one side of the face.
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.
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.
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
An abnormal increase in the pitch (frequency) of the voice
Nystagmus consisting of horizontal to-and-fro eye movements.
Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
Hyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted.
Abnormally increased perception of sound.
painful_sensitivity_to_sound; sounds_seem_unnaturally_loud
excessive sensitivity to painful stimuli.
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Overshooting the target on rapid-alternating-movements.
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
abnormal increase in skeletal or smooth muscle tone; skeletal muscle hypertonicity may be associated with pyramidal tract lesions or basal ganglia diseases.
A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
Diminished sensation in one or more modality including temperature sense, vibration sense, pain sense, light touch sense, or proprioception.
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.
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.
Undershooting the target on rapid alternating movements.
Decreased but not necessarily absent deep tendon reflexes.
reduced_sense_of_smell, impaired_sense_of_smell
Diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
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.
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
Judgment refers to the patient's capacity to make sound, reasoned and responsible decisions.
impaired_working_memory; impaired_registration
The definition of inappropriate is someone or something that is not within the bounds of what is considered appropriate or socially acceptable.
Using humor and joking inappropriately, usually in the setting of disinhibition due to frontal lobe injury. See also witzelsucht.
Uncontrolled episodes of crying or laughing, without apparent motivating stimuli.
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.
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.
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
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.
Instability of mood, prone to rapid changes in mood and affect.
lack_of_lacrimation, lack_of_tears, absent_lacrimation
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Fasciculations affecting the musculature of the arms and legs.
A loss of equilibrium is defined by an inability to stand upright.
A nonspecific feeling of bodily discomfort, fatigue and/or unease.
A disorder characterized by excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood.
masked_facies: lack_of_facial_expression; poverty_of_facial_expression
Temporary intermittent failures of memory.
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
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.
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.
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
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.
Ataxia that is of mild severity. See definition of ataxia.
constricted_pupil; miosis; abnormal_non-physiological_constriction_of_the_pupil
A disorder characterized by the inability to convey emotion by using the prosody of speech.
The inability to continue a motor activity without repeated verbal cues (e.g. "hold your hands outstretched."
Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.
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.
Muscular atrophy involving the muscles of the hand.
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
An abnormal, increased fatiguability of the musculature.
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.
motor impairment whereby the hypertonic state is charcterized by bidirectional increased resistance to passive movement.
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental diseases.
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.
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.
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 exaggerated alternation of lateral trunk movements with an exaggerated elevation of the hip
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.
recurrent, uncontrollable brief episodes of sleep and lapses in consciousness, often associated with hypnagogic hallucinations, cataplexy, automatic behaviors and sleep paralysis
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
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.
involuntary, rapid, rhythmic movement of the eyeball
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.
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.
When these back to back saccades occur purely horizontally, they are known as “ocular flutter” and can be a stage of resolving opsoclonus.
Perception of a smell in the absence of a corresponding stimulus.
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.
Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
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.
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).
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.
fall in blood pressure associated with dizziness, syncope and blurred vision occurring upon standing or when standing motionless in a fixed position.
The involuntary repetition of syllables or words while speaking. It is a form of verbal perseverative behavior.
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.
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.
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
Weakness or partial paralysis in the lower limbs.
Complete or partial loss of movement in the lower part of the body, including both legs
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).
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
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).
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.
A disorder characterized by a conspicuous change in a person's behavior and thinking.
An abnormally heightened sensitivity to loud sounds
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Poor balance is an inability to stand upright.
bad_balance; impaired_balance; imbalance
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.
An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Also known as exophthalmos.
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
Amyotrophy (muscular atrophy) affecting the proximal musculature
A lack of strength of the proximal muscles
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.
Abnormally slow thought processes and physical movement.
pyschomotor impairment; motor retrdation
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.
Reduced ability to withstand or participate in activities that induce physical or mental exertion.
Examination of the reflexes includes deep tendon reflexes (muscle stretch reflexes), cranial nerve reflexes, primitive reflexes, cutaneous reflexes, and the plantar response.
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
An inability to rest, relax, or be still.
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.
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 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.
left-right_confusion; left-right_disorientation
Bulging forward of the right eye. Right exophthalmos.
A rooting (searching) reflex is when the lips and mouth deviate toward a tactile stimulus delivered to the cheek or near the mouth.
A form of nystagmus in which the eyeball makes rotary motions around the axis.
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.
Localized defect in the visual field bordered by an area of normal vision.
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.
A voluntary form of mutism, often associated with psychiatric illness.
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.
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.
An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
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.
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
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.
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
A habitual positioning of the body with the head and upper back bent forward
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
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
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.
Disorder in which speech is involuntarily interrupted by hesitations, repetitions, and spasms of the muscles involved in breathing or vocalization.
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.
Usually a complaint by the patient that is indicative of a disease process.
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.
Reduced ability to walk in a straight line while placing the feet heal to toe
iatrogenic extrapyramidal disorder produced by long-term administration of antipsychotic drugs; characterized by oral/lingual/buccal dyskinesias and choreoathetoid movements of the extremities.
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.
symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, roaring or other noises in the ear.
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)
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
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.
A temporary and reversible loss of memory.
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.),
Truncal ataxia is manifested by swaying while standing or walking. Its origins may reflect dysfunction of cerebellar or proprioceptive systems.
Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli.
not willing to do what someone wants or asks for; not cooperative
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.
Unsteady when standing is characterized by swaying or falling of the patient when standing upright.
Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation.
Loss of the ability to control the urinary bladder leading to involuntary urination.
Inability to completely empty the urinary bladder during the process of urination
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
A vertical gaze palsy may be the inability to look upward or downward.
poor upgaze; upgaze palsy; upgaze weakness
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 is a symptom, rather than a condition itself. It's the sensation that you, or the environment around you, is moving or spinning
Dolls_head_reflex_absent; Dolls_head_reflex_abnormal
Difficulty in recognizing objects by visual input in absence of sensorial visual impairment
An absolute or relative reduction in the extent of the normal field of vision
Optical perception of an object, person or event in the absence of a corresponding stimulus.
A loss of the ability to move the vocal folds.
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.
Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.
Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
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.
Reduced strength of muscles that perform specific actions at a joint.
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
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
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.
A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
The reduction of overall body mass; may be due to disease, diet, or drugs; can be permanent or temporary, and may involve any tissue.
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Abnormal protrusion of the scapula away from the surface of the back
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.
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.
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.
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).
1970 Gastaut Age 1981 Bancaud Ictal ILAE 1989
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
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
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.
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.
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).
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.
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)
ILAE 2010 Autosomal Dominant Epilepsy with Auditory Features (ADEAF)
Engel 2001 DIsorders of folic acid and B12 metabolism
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
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.
Engel 2001 Benign Familial Infantile Seizures ILAE 2010 Benign Familial Infantile Epilepsy
ILAE 2010 Benign Familial Neonatal Epilepsy (BFNE)
Engel 2001 Benign Familial Neonatal Seizures
Engel 2001 Benign Infantile Seizures Nonfamilial
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
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.
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.
ILAE 2010 Benign Neonatal Seizures (BNS)
Engel 2001 Bilateral perisylvian syndrome
Engel 2001 Disorders of biotin metabolism
Engel 2001 Disorders of Carbohydrate Metabolism
Engel 2001 Celiac disease (Epilepsy With Occipital Calcifications And Celiac Disease)
Engel 2001 Drug or other chemically induced seizures
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
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
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.
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)
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.
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.
Engel 2001 Malformations due to abnormal cortical developments
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.
Engel 2001 Dentatorubropallidoluysian atrophy
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.
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).
"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."
ILAE 1989 Dorsolateral. Dorsolateral seizure patterns may be tonic or, less commonly, clonic with versive eye and head movements and speech arrest.
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),
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.
Engel 2001 Early-Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos Type)
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.
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)
Engel 2001 Early Onset Benign Childhood Occipital Epilepsy - Panayiotopoulos Type
Engel 2001 Immediate and early post cerebral insult seizures
Engel 2001 Immediate and early posttraumatic seizures
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.
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.
ILAE 2010 Epilepsy of Infancy with Migrating Focal Seizures
ILAE 2010 Epilepsy with Generalized Tonic-Clonic Seizures Alone
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
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
Engel 2001 Familial Focal Epilepsy with Variable Foci Syndromes in development ILAE 2010 Childhood to Adult Familial Focal Epilepsy with Variable Foci
Engel 2001 Familial Temporal Lobe Epilepsy
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.”
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).
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
Engel 2001 Generalized Epilepsies with Febrile Seizures Plus Syndromes in development ILAE 2010 Febrile Seizures Plus (FS+) Can start in infancy
Engel 2001 Focal or multifocal cortical dysplasia
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.
Engel 2001 Fructose 1-6 diphsphatase deficiency
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.
ILAE 2010 Gelastic Seizures with Hypothalamic Hamartoma
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.
Engel 2001 Glucose transport protein deficiency
ILAE 2010 Hemiconvulsion-Hemiplegia-Epilepsy
Engel 2001 Hemiconvulsion-Hemiplegia Epilepsy (HHE) Syndrome
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.
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).
Engel 2001 Isolated lissencephaly sequence
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
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
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
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.
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.
Engel 2001 Landau-Kleffner Syndrome ILAE 2010 Landau-Kleffner Syndrome (LKS) Fischer 2014 continuous spike and waves during sleep and the Landau-Kleffner Syndrome
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)
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.
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)
Engel 2001 Mesial Temporal Lobe Epilepsy defined by sepcific etiologies
Engel 2001 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
ILAE 2010 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
Engel 2001 Migrating Partial Seizures of Early Infancy Syndromes in development
Engel 2001 Migrating Partial Seizures of Infancy Syndromes in development
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).
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.
Engel 2001 Epilepsy with myoclonic astatic seizures
Engel 2001 Myoclonic Atonic Seizures ILAE 2010 Myoclonic Atonic Epilepsy
ILAE 2010 Myoclonic Encephalopathy in Nonprogressive Disorders
ILAE 2010 Myoclonic Epilepsy in Infancy (MEI)
Engel 2001 Myoclonic Status in Nonprogressive Encephalopathies Syndromes in development
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)
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.
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.
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.
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.
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.
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.
Engel 2001 Periventricular nodular heterotopia
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
Engel 2001 Progressive Myoclonus Epilepsies ILAE 2010 Progressive Myoclonus Epilepsies (PME)
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
Engel 2001 Pyruvate dehydrogenase deficiency
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.
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
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.
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.
By most appropriate genetic designation (e.g. XX, XY, etc).
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
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
ILAE 1989 Supplementary motor seizures. In supplementary motor seizures, the seizure patterns are postural, focal tonic, with vocalization, speech arrest, and fencing postures.
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.
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.
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)
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
Bancaud 1981 Puberty SIGN 2005 Berg 2010
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.
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
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.
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).
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