Diko : en:reflex, deep tendon, absent

en:reflex, deep tendon, absent

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0241772

Inhib

⊗

›

fièvre

(surexcitation)

•

fièvre

(trouble de l'âme)

•

épiphyse

(os)

Associations d'idées

[F]

›

1000

en:peripheral sensory structure

•

en:loss of primary reflexes

•

en:only some achieve rolling or sitting

•

en:no speech development (in most patients)

•

en:neuronal loss in the striatum, cerebral cortex, and cerebellum (in some patients)

•

en:neurogenic muscle atrophy, especially in the lower limbs

•

en:nerve hypertrophy

•

en:mild-severe mental retardation (20%)

•

en:mental retardation (in most patients)

•

en:increased signal intensity on t(2)-weighted scans in the periventricular and centrum ovale area

•

en:platybasia

•

en:inability to sit or walk independently

•

en:impaired ambulation due to muscle weakness

•

en:dermoid cyst

•

en:deficit in basic reading

•

en:brain mrs shows decreased creatine content

•

en:acute neurologic decompensation (in later-onset cases)

•

en:abnormal corticospinal tract decussation

•

en:supranuclear gaze palsy

•

en:peripheral neuropathy (rare)

•

en:communicating hydrocephalus

•

en:psychomotor delay, severe

•

en:dysmyelinating leukodystrophy

•

en:secondary hypertonia

•

en:spinal cord compression by tumor infiltration

•

en:spheroids contain neurofilaments

•

en:neuropathologic findings include leukoencephalopathy, predominantly in the upper corticospinal tract and cerebellar peduncles (initially)

•

en:hypo- or areflexia during attacks

•

en:gait, drop foot

•

en:eeg is slowed with polyspike wave discharges

•

en:dystonia, focal, limited to orbicularis oculi muscle (blepharospasm)

•

en:hypoplastic sural nerve

•

en:decreased touch sensation

•

en:small hippocampi (1 patient)

•

en:cerebellar atrophy (reported in 1 patient)

•

en:ccerebellar ataxia

•

en:brainstem concavity

•

en:aplasia/hypoplasia of the cerebellar vermis

•

en:tau-immunoreactive inclusions in neurons and astrocytes

•

en:small sella

•

en:cognitive impairment (cvs+)

•

en:mental retardation (some)

•

en:mental retardation may occur

•

en:mild to moderate distal sensory impairment

•

en:normal motor nerve conduction velocities

•

en:pachygyria, usually posterior

•

en:poor adaptive skills

•

en:seizures are poorly controlled

•

en:profound mental retardation and hypotonia in survivors

•

en:rapid initial onset of symptoms (hours to weeks)

•

en:rapid regression

•

en:spastic paraplegia, later onset (in one patient)

•

en:symptoms of hypothalamic disturbances (in some patients)

•

en:mental lethargy

•

en:third ventricle subependymal focal gliosis

•

en:mental retardation (in some cases)

•

en:delayed psychomotor development, severe (> 90%)

•

en:intracranial calcifications, band-like, particularly periventricular and in the basal ganglia and thalamus

•

en:demyelination

•

en:upper motor neuron degeneration

•

en:anomalies of the temporal area

•

en:background slowing

•

en:brain atrophy (1 patient)

•

en:clonic convulsion

•

en:convulsive seizures

•

en:developmental delay (rare)

•

en:inability to communicate

•

en:difficulty standing alone

•

en:emg shows chronic axonal neuropathy

•

en:expressive language disorder

•

en:frontotemporal pachygyria (1 patient)

•

en:headaches, severe, unilateral

•

en:hemorrhagic cerebrovascular accident

•

en:ubiquitin-positive cytoplasmic and intranuclear neuronal inclusions

•

en:contractures (older children and adolescents)

•

en:walking during slow-wave sleep (sleepwalking)

•

en:neurofibrillary tangles may be present

•

en:incomplete myelination

•

en:learning difficulties (less common)

•

en:loss of myelinated fibers on nerve biopsy

•

en:monotonous speech

•

en:mri shows decreased signal intensity in the pallidal nuclei with central hyperintensity ('eye of the tiger' sign)

•

en:muscle biopsy shows abnormal encasement of presynaptic membrane by schwann cells

•

en:neuronal loss and gliosis in the substantia nigra pars compacta

•

en:hypotonia (congenital form)

•

en:peripheral neuropathy (reported in 1 patient)

•

en:weakness

•

en:resting tremors

•

en:secondary spinal cord compression may occur

•

en:seizures, refractory, infantile-onset

•

en:seizures (50% of patients)

•

en:impaired distal sensation to vibration and position

•

en:rapid, jerky movements

•

en:hypotonia, severe (rare)

•

en:decerebrate posturings

•

en:hyperexcitability of peripheral nerve fibers

•

en:attenuated gyri

•

en:autism or autistic features

•

en:bilateral perisylvian cortical malformations on mri

•

en:central nervous system malformations (40%)

•

en:cerebellar atrophy with signal hyperintensity in the cerebellar cortex seen on t2-weighted mri

•

en:autonomic abnormalities

•

en:decreased supratentorial volume

•

en:global and focal neurologic abnormalities (less than 30%)

•

en:dementia (subtype 3a)

•

en:diffuse axonal swelling

•

en:dystonic posture

•

en:failure to achieve sitting or walking (severe form)

•

en:fasciculations (after long disease duration)

•

en:nerve conduction velocities only slightly decreased

•

en:neuronal migration disorder

•

en:normal interictal neurologic examination

•

en:pachygyria, bilateral frontotemporal

•

en:peripheral neuropathy, mild (less common)

•

en:spinal nerve disorders

•

en:speech abnormalities (palilalia)

•

en:supratentorial structures unformed or regressed

•

en:abnormal involuntary movement

•

en:abnormally marked pontobulbar sulcus

•

en:motor neuropathy beginning in lower limbs

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:cortical dysplasia (2 patients)

•

en:migraine (in some patients)

•

en:loss of purkinje cells

•

en:leigh syndrome (245000), in a subset of patients

•

en:impaired expressive speech

•

en:focal dystonia, usually of the hands

•

en:dystonia with diurnal variation

•

en:decreased patellar reflex

•

en:complete or partial absence of the corpus callosum

•

en:chiari type i malformation (in some patients)

•

en:abnormal eeg with epileptiform changes

•

en:abnormal 'cap' on the dorsal pons extending into the fourth ventricle

•

en:cognitive impairment, mild (1 patient)

•

en:anomalies of the folding of the right sylvian area

•

en:cerebellar signs

•

en:concentration impairment

•

en:periventricular nodular heterotopia

•

en:decreased small myelinated nerve fibers

•

en:white matter changes may occur (in adulthood)

•

en:unsteadiness, episodic

•

en:word finding difficulty (disorder)

•

en:sural nerve biopsy shows normal findings

•

en:sural nerve biopsy shows axonal degenerative process

•

en:spongiosis, mild

•

en:speech delay (in all patients)

•

en:skin photosensitivity

•

en:seizures (rare)

•

en:rare dementia

•

en:poor or absent independent walking

•

en:syringomyelia (in some patients)

•

en:patients show normal psychomotor development

•

en:hippocampal atrophy (1 patient)

•

en:normal motor nerve conduction velocities (ncv)

•

en:delayed psychomotor development, moderate to severe

•

en:dysarthria, mild (in some patients)

•

en:dystonic tremor

•

en:dysplastic cerebellar vermis

•

en:impaired processing of language

•

en:infantile nystagmus

•

en:lumbar paraspinal rigidity causes exaggerated lumbar lordosis

•

en:moderate to severe hypotonia

•

en:motor developmental delay

•

en:neuronal loss in the inferior olives

•

en:speech severely limited or absent

•

en:mental retardation (untreated hypothyroidism)

•

en:spastic diplegia, symmetric

•

en:slow paraparetic gait

•

en:sensorimotor polyneuropathy affecting legs more than arms (iowa type 107680.0010)

•

en:restrictive behavior, interests, and activities

•

en:neurologic regression after age 2 years

•

en:mri shows white matter lesions

•

en:mild to severe mental retardation (24%)

•

en:autism (rare)

•

en:mental retardation, moderate (in some patients)

•

en:dysmetria (in 1 of 3 families)

•

en:developmental retardation, severe

•

en:decreased or absent sensory nerve action potentials

•

en:decreased compound muscle action potentials (cmap)

•

en:bradykinesia

•

en:absent myelination of the brain (severe connatal form)

•

en:abnormal cortical lamination

•

en:'dragonfly' pattern on imaging

•

en:'spheroid' inclusions in axons

•

en:t2-weighted hyperintensities in subcortical brain regions seen on mri

•

en:deep interpeduncular fossa

•

en:absence seizures may occur

•

en:increased iron deposition in the basal ganglia

•

en:tremor, small-amplitude, high-frequency, restricted to the hands

•

en:speech articulation problems

•

en:attacks characterized by lethargy, incoordination, loss of motor skills

•

en:poor vibratory sense

•

en:paroxysmal nonkinesigenic dyskinesia

•

en:multifocal epileptic activity

•

en:mental retardation (in some)

•

en:leukodystrophy and white matter changes, which improve with age

•

en:learning disabilities (in some patients)

•

en:progression to tetraplegia and decerebrate state

•

en:imaging shows noncalcified subependymal periventricular heterotopic nodules of gray matter

•

en:falx cerebri, precocious calcification of

•

en:epileptic drop attack

•

en:dystonia (may spontaneously remit in childhood or adolescence)

•

en:delayed psychomotor development (in some patients)

•

en:decreased speech

•

en:cogwheel rigidities

•

en:cerebellar ataxia during episodes

•

en:heterotopic neurons in the white matter (36%)

•

en:limb dystonia

•

en:upper limb involvement (onset in the first decade)

•

en:other cranial nerves may be involved

•

en:myoclonic seizures (1 patient)

•

en:myelomeningocele (less common)

•

en:mental retardation, mild to profound

•

en:mental handicap

•

en:delayed psychomotor development (mild to severe)

•

en:hypertonia

•

en:giant axonal swellings filled with densely packed bundles of 10-nm neurofilaments seen on sural nerve biopsy

•

en:dysarthria (1 family)

•

en:decreased white matter volume

•

en:decreased or absent motor potentials in the tibial and peroneal nerves

•

en:anterior horn cell impairment

•

en:angiographically 'silent'

•

en:abnormal coordination

•

en:right second lumbar nerve

•

en:myoclonus (in a subset of patients)

•

en:arachnoid cysts (in one family)

•

en:occurs most often during the night or early morning

•

en:brainstem hypoplasia (in some patients)

•

en:absent tendon reflex

•

en:white matter lesions in the supratentorial white matter, brainstem, cerebellum, and spinal cord

•

en:ventriculomegaly (38%)

•

en:scanning speech

•

en:retrocerebellar cyst (in some patients)

•

en:periodic stiffness

•

en:status epilepticus rarely occurs

•

en:multifocal discharges associated with contralateral jerky movements

•

en:intellectual impairment, mild (in some patients)

•

en:hyperthermia

•

en:enlarged ventricles (1 patient)

•

en:dystonia (in 2 patients)

•

en:cerebral cortex myoclonus

•

en:loss of language ability

•

en:cerebellar hypoplasia (seen in recessive form)

•

en:distal areflexia

•

en:delayed motor development due to muscle weakness

•

en:demyelination of the posterior and lateral columns of the spinal cord

•

en:developmental delay (20%)

•

en:motor delay (in one patient)

•

en:dystonic vocal tremor

•

en:hyporeflexia of the upper limbs (in some patients)

•

en:inability to walk independently

•

en:nystagmus decreases on convergence

•

en:corticospinal tracts with decreased myelin staining

•

en:decreased distal touch sense (57% of patients)

•

en:affected arteries show loss of smooth muscle cells

•

en:corpus callosum lipoma

•

en:complex partial seizures, often with secondary generalization, are the most common type

•

en:cerebellar vermis hypoplasia (in 1 patient)

•

en:brainstem atrophy

•

en:basal ganglion degeneration

•

en:axonal motor neuropathy (in about 50%)

•

en:areflexia (30%)

•

en:anterior sacral meningocele

•

en:peripheral sensory loss, distal, mild (in 2 of 3 families)

•

en:afebrile seizure

•

en:actin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum

•

en:abnormality of ocular smooth pursuit

•

en:occlusive hydrocephalus, congenital

•

en:initial normal development

•

en:pontine hypoplasia, mild

•

en:lower limb muscle atrophy due to peripheral neuropathy

•

en:proximal muscle weakness

•

en:upper limbs affected

•

en:speech delay (1 patient)

•

en:speech delay

•

en:seizures (may be difficult to control)

•

en:reduced numbers of neurons

•

en:partial epilepsy

•

en:nerve conduction velocity (ncv) slowing (1 family)

•

en:mri shows symmetric, diffuse lesions with csf-like signal intensity

•

en:motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening

•

en:mental retardation, moderate to severe (type ii, infantile and juvenile)

•

en:parkinsonism

•

en:lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation

•

en:clumsiness (82%)

•

en:hypoplasia of the optic tract

•

en:left first thoracic spinal nerve

•

en:action myoclonus (triggered by voluntary movements)

•

en:axonal neuropathy

•

en:seizures in the newborn, refractory

•

en:cognitive deficits (less common)

•

en:dementia, presenile, progressive, beginning around age 30 years

•

en:distal upper limb muscle weakness

•

en:eeg with focal discharge

•

en:decreased pain and temperature perception

•

en:no myoclonus

•

en:moro reflex absent

•

en:myasthenias

•

en:neuronal loss in the substantia nigra

•

en:normal intelligence to mild or moderate mental retardation

•

en:psychomotor retardation (in 1 patient)

•

en:patchy diffuse hyperintensities on t2-weighted mri

•

en:progressive bulbar palsy

•

en:seizures, severe, intractable

•

en:social and occupational deterioration

•

en:mild brain anomalies on mri (e.g., dilated ventricles) (in some patients)

•

en:moderate mental retardation (i.q. 35-49)

•

en:structural brain abnormalities

•

en:meningitis

•

en:lower limb atrophy

•

en:inferior vermis hypoplasia

•

en:hypo- or areflexia

•

en:easy fatigability

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:defective myelination of the deep white matter

•

en:decreased number of myelinated fibers

•

en:coarsened pattern of sulci and gyri

•

en:chronic fatigable muscles

•

en:cerebellar atrophy seen on mri

•

en:axonal spheroids in the dorsal column

•

en:atrophy of the granular cell layer of the cerebellum

•

en:speech development delayed (in some patients)

•

en:enlarged white matter

•

en:suppression-burst pattern see on eeg

•

en:neuronal loss in the cerebral cortex

•

en:upper body involvement

•

en:spasmodic dysphonia

•

en:some patients have no structural brain abnormalities

•

en:small midbrain

•

en:slowed background activity

•

en:reduced brain size

•

en:psychomotor regression, episodic, often associated with common childhood infections

•

en:postural tremor, slow, irregular (in some patients)

•

en:periventricular gray matter heterotopia

•

en:subcortical white matter lesions in the temporal lobes seen on brain mri

•

en:patients may develop a seizure disorder later in life

•

en:pain insensitivity, diffuse (including to visceral pain)

•

en:severe delay in myelination

•

en:mild-moderate ventricular dilatation

•

en:chiari malformation (uncommon)

•

en:intracranial bleeding (1 patient)

•

en:vermian hypoplasia

•

en:white matter abnormalities on mri

•

en:'globoid multinucleated cells' in brain tissue

•

en:back pain

•

en:ataxia, mild

•

en:decreased active movements

•

en:delayed gross motor development (in some patients)

•

en:delayed myelination on brain mri (reported in 1 patient)

•

en:head tremor (in some patients)

•

en:hypnagogic hallucinations

•

en:hypoplastic cerebellar vermis (rare)

•

en:spasticity (rare)

•

en:no sensory deficit

•

en:small cerebral cortex

•

en:severe prenatal onset hydrocephalus

•

en:sensorimotor neuropathy

•

en:porencephaly (in some patients)

•

en:poor speech

•

en:partial empty sella turcica

•

en:parkinsonism, early-onset

•

en:chiari i malformation on mri (some)

•

en:muscle biopsy shows decreased postsynaptic membrane density

•

en:impaired gait due to peripheral neuropathy

•

en:hippocampal atrophy (in 2 siblings)

•

en:hallucinations (rare)

•

en:drooling

•

en:developmental delay (in some patients)

•

en:cerebellar hypoplasia (in 1 of 2 sibs)

•

en:ataxia (type i and type ii, infantile and juvenile)

•

en:upper limb hyperreflexia (in some patients)

•

en:symptoms are exacerbated during pregnancy

•

en:absence of vestibular schwannomas at age greater than 18 years

•

en:writing fatigability

•

en:mental retardation (if untreated in infancy)

•

en:gray matter structure of central nervous system

•

en:type iii eeg response is parietooccipital spikes followed by biphasic slow waves and spreading to the frontal region

•

en:sural nerve biopsy shows decrease in myelinated fibers

•

en:subependymal pseudocyst

•

en:progressive cerebral atrophy seen on mri

•

en:normal nerve conduction velocities

•

en:nodding of head

•

en:nerve biopsy shows decreased number of myelinated fibers

•

en:mri shows t2-weighted signals in the basal ganglia

•

en:spinal cord paresis

•

en:lower limb hyperreflexia (reported in 1 patient)

•

en:agyria (wws)

•

en:frontotemporal leukoencephalopathy

•

en:extensor plantar responses (reported in 1 family)

•

en:epilepsy, rolandic

•

en:dysarthria (1 patient)

•

en:distal muscle weakness may also occur

•

en:deficits in language expression

•

en:anterior temporal lobe subcortical cysts

•

en:lack of independent ambulation

•

en:non-purposeful arm movements, choreoathetoid-like

•

en:neuropathologic examination shows severe demyelination

•

en:neuronal loss in the brainstem

•

en:neuronal loss, diffuse

•

en:nerve conduction velocity studies show axonal sensory neuropathy

•

en:nerve conduction studies show mildly reduced or normal sensory values

•

en:multiple cmap response to single nerve stimulation

•

en:nerve biopsy shows axonal degeneration

•

en:narcolepsy

•

en:myelination defects (type ii)

•

en:muscle stiffness and rigidity, chronic, fluctuating

•

en:multifocal areas of laminar dysmorphic neurons (in type iia)

•

en:mri is best imaging modality to detect lesions

•

en:normal early developmental milestones

•

en:normal early development

•

en:peripheral neuropathy, axonal and demyelinating

•

en:normal intellectual development

•

en:peripheral polyneuropathy

•

en:poor dendritic maturation

•

en:polymicrogyria, anterior to posterior gradient

•

en:pituitary agenesis (rare)

•

en:photosensitive tonic-clonic seizures

•

en:periventricular hemorrhagic infarction

•

en:perisylvian polymicrogyria

•

en:motor stereotypy

•

en:normal or mildly decreased motor nerve conduction velocity (ncv) (greater than 38 m/s)

•

en:peculiar gait (if left untreated)

•

en:pathologic changes in anterior horn cells and lateral corticospinal tracts

•

en:partial seizure

•

en:opsoclonus

•

en:olivopontocerebellar hypoplasia, fetal-onset

•

en:obsessive compulsive behavior

•

en:no autistic features

•

en:irregular loops and focal folding of myelin sheaths

•

en:migrating discharges from one cortical region to another seen on eeg (in some patients)

•

en:motor development delay (83%)

•

en:leukoencephalopathy on ct and mri

•

en:loss of motor neurons in the anterior horn of the spinal cord

•

en:loss of anterior horn cells and gliosis in the spinal cord

•

en:loss of ability to run due to lower limb weakness

•

en:locomotor delay (early-onset form)

•

en:lobar holoprosencephalies

•

en:limb fasciculations

•

en:lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord

•

en:loss of myelin and oligodendroglia

•

en:lack of upper motor neuron signs

•

en:lack of speech development

•

en:lack of expressive speech

•

en:jerk-locked premyoclonus spikes

•

en:ischemic stroke in the basal ganglia (rare)

•

en:postural instability (63%)

•

en:loss of motor skills

•

en:loss of spontaneous movements

•

en:motor automatisms

•

en:mildly delayed motor development

•

en:monotone speech

•

en:molar tooth sign on brain mri

•

en:mixed sensory-motor polyneuropathy

•

en:minor motor impairment (stage 2)

•

en:mild mental deterioration

•

en:mildly thin corpus callosum

•

en:microvacuolation

•

en:low-normal intelligence

•

en:mental retardation, variable degree (in some patients)

•

en:mental retardation, moderate-severe (2p21del)

•

en:mental retardation, mild (1 family)

•

en:mental retardation, mild, in most carrier females

•

en:may progress to involve proximal muscles

•

en:lower motor neuron symptoms

•

en:poor fine and gross motor coordination

•

en:simplified gyral pattern (in some patients)

•

en:progressive cerebellar degeneration

•

en:spastic paraparesis (1 patient)

•

en:symmetric lesions in the basal ganglia consistent with leigh syndrome (256000), in a subset of patients

•

en:sural nerve biopsy shows marked loss of myelinated fibers

•

en:subcortical atrophy (in some patients)

•

en:subarachnoid cyst

•

en:stimulation sensitive generalized myoclonus (stage 3)

•

en:spinal cord atrophy (1 family)

•

en:spastic ataxia

•

en:tau immunreactivity

•

en:spasticity of lower and upper limbs

•

en:spasticity may occur

•

en:spasticity, usually of the lower limbs

•

en:slow gross motor activity

•

en:sleep talking

•

en:sleep paralysis at beginning or end of sleep period (in 60% of patients)

•

en:t2-weighted hyperintensities in the supratentorial white matter seen on brain mri

•

en:tbp- and 1c2-immunoreactive neuronal inclusions

•

en:sleep benefit (31%)

•

en:upper limb dysmetria

•

en:waddling gait

•

en:visual acuity is normal

•

en:vestibular anomalies (less common)

•

en:ventricular dilatation (in some patients)

•

en:ventricles slightly enlarged

•

en:upper motor signs (in some patients)

•

en:unable to walk

•

en:tetany

•

en:ubiquitin-positive intranuclear neuronal inclusions

•

en:type i arnold chiari malformation

•

en:type ii eeg response is parietooccipital spikes followed by biphasic slow waves

•

en:twitching of the fingers and toes

•

en:tremor (less common)

•

en:thin bony cortex

•

en:tethered cord (uncommon)

•

en:sleep disorder (rare)

•

en:sleep-onset rem

•

en:progressive choreoathetosis

•

en:pyramidal sign

•

en:relief with motor activation

•

en:relative preservation of purkinje cells, but they are deformed and disaligned

•

en:regenerating axons

•

en:reduced nerve conduction velocities (demyelinating range)

•

en:quadriplegia, episodic

•

en:pyramidal tetraparesis

•

en:psychomotor retardation, profound, in those who survive

•

en:segmental sensory loss, especially of pain and temperature

•

en:psychomotor regression

•

en:proximal weakness occurs first

•

en:prominent csf spaces (in some patients)

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

en:progressive language deterioration

•

en:progressive inability to walk

•

en:resting myoclonus

•

en:seizures, early-onset (1 family)

•

en:sinus pericranii (rare)

•

en:sensory impairment (in some patients)

•

en:intracranial thin-walled sinusoidal vessel (cavernous) malformations

•

en:severity of symptoms peak in the second decade and do not progress

•

en:severe speech delay

•

en:severe mental retardation (i.q. 20-34)

•

en:severe involvement of globus pallidus

•

en:severely delayed psychomotor development

•

en:sensory aura may occur

•

en:seizures, intractable (in 1 family)

•

en:selective decrease in small myelinated fibers seen on sural nerve biopsy

•

en:seizure (in a subset of patients in infancy)

•

en:seizures often begin with head and eye deviation

•

en:seizures (reported in 2 patients)

•

en:seizures (1 patient)

•

en:seizures, tonic-clonic (1 patient)

•

en:seizures, refractory to treatment

•

en:iron deposition in the basal ganglia (in some patients)

•

en:encephaloceles, frontal

•

en:intracranial hypertension

•

en:cerebellar dysplasia

•

en:cerebrovascular ischemic attacks, transient (proceed secondary neurologic findings)

•

en:cerebrospinal fluid may show decreased levels of homovanillic acid (hva)

•

en:cerebral white matter lesions (1 patient)

•

en:cerebral hemorrhage

•

en:cerebellar neuronal loss

•

en:cerebellar hypoplasia (seen in hhs variant)

•

en:cerebellar cortex shows normal layers

•

en:cobblestone lissencephaly

•

en:cerebellar atrophy (in adulthood)

•

en:cerebellar ataxia (seen in hhs variant)

•

en:cerebellar ataxia (1 patient)

•

en:central facial nerve paralysis (rare)

•

en:cell loss and gliosis in the basal ganglia

•

en:burning or tingling of plantar surface of foot (in some patients)

•

en:choreoathetosis (described in 1 patient)

•

en:cobblestone lissencephaly (1 patient)

•

en:brain mri shows flattening of the ventral pons

•

en:corpus callosum, agenesis of (in some patients)

•

en:decreased cerebral volume, especially of the frontal lobes

•

en:cysts tend to enlarge with age

•

en:cystic lesions in the basal ganglia, brainstem, and cerebral hemispheres similar to leigh syndrome (256000)

•

en:cranial nerve palsy, intermittent, transient

•

en:cortical dysplasia, focal (in some patients)

•

en:cortical atrophy (in some patients)

•

en:constructional apraxia (in a subset of patients)

•

en:cognitive decline (1 patient)

•

en:congenital hyperextension of limb

•

en:coma

•

en:cognitive impairment (1 family)

•

en:cognitive function, variable

•

en:cognitive deficits may occur

•

en:cognitive decline (later in life)

•

en:breathing difficulty due to vocal cord paralysis

•

en:brain imaging shows decreased white matter density

•

en:decreased n-acetylaspartate

•

en:abnormal gyri

•

en:agenesis of the occipital lobes (1 patient)

•

en:acute poliomyelitis

•

en:action myotonia

•

en:action myoclonus

•

en:absence of anterior pituitary

•

en:abnormal spike waves

•

en:abnormal eeg (poor alpha rhythms)

•

en:alpha-synuclein-immunoreactive lewy neurites

•

en:'onion bulb' formations on nerve biopsy

•

en:spinal cord

•

en:meninges

•

en:cns component

•

réflexe tendineux profond aboli

•

en:white matter changes on brain imaging (less common)

•

en:agenesis or hypogenesis of the cerebellar vermis

•

en:alzheimer disease, early onset

•

en:brainstem hypoplasia (1 patient)

•

en:autonomic involvement does not always occur

•

en:basal ganglia lesions seen on mri

•

en:axonal regeneration

•

en:axonal motor neuropathy (lower limbs more affected than upper limbs)

•

en:axial rigidity

•

en:axial imbalance (34%)

•

en:autonomic signs

•

en:autonomic dysregulation

•

en:anosmia

•

en:autonomic dysfunction (in some patients)

•

en:atrophy of the spinal cord and cerebellar tracts

•

en:atrophy of the dentate nucleus

•

en:ataxia (cvs+)

•

en:ataxia, gait and appendicular

•

en:ataxia, cerebellar (in some patients)

•

en:anxiety

•

en:decreased mental processing speed

•

en:decreased neurons in spinal sympathetic ganglia

•

en:intercostal muscle involvement

•

en:focal neurologic deficit

•

en:generalized muscle weakness

•

en:generalized cortical atrophy (in one patient)

•

en:generalized amyotrophy

•

en:gait abnormalities (less common)

•

en:frequent falls with preservation of consciousness

•

en:focal pachygyria

•

en:focally folded myelin (1 family)

•

en:globally delayed development

•

en:fluctuating neurologic signs

•

en:febrile seizures may occur

•

en:facial paresis, congenital bilateral

•

en:excessive daytime somnolence

•

en:eosinophilic 'cotton wool' plaques without dense congophilic core in various brain regions

•

en:enlarged motor unit action potentials

•

en:generalized tonic-clonic seizures (gtcs) on awakening

•

en:global developmental delay

•

en:encephalitis

•

en:hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults)

•

en:intellectual disability (in some patients)

•

en:intellectual disability, moderate to severe

•

en:immobile

•

en:ictal eeg shows focal onset in central, parietal, or temporal regions

•

en:hypoplastic corpus callosum (rare)

•

en:hypokinesia in infancy

•

en:hyperreflexia, especially of the lower limbs

•

en:globular thalamus (1 patient)

•

en:hyperintensities in the basal ganglia and/or thalamus

•

en:hyperactivity

•

en:holoprosencephaly (variable)

•

en:head tremor

•

en:headache, episodic

•

en:head-rolling movements

•

en:enhancement of the c-reflex

•

en:emg shows neurogenic abnormalities

•

en:decreased or absent sensory potentials in the sural, ulnar and median nerves

•

en:delayed onset of phrase speech (> 36 months)

•

en:developmental delay (in most patients)

•

en:developmental delay, variable severity

•

en:dementia in a subset of patients

•

en:dementia (onset in fifth decade)

•

en:dementia (in some patients)

•

en:dementia, progressive, with onset of disease

•

en:delayed motor development, mild, transient

•

en:difficulty in phonologic coding

•

en:degeneration of purkinje cells in the cerebellum

•

en:deficit in nonword repetition (nwr)

•

en:defect in axonal guidance

•

en:decreased upper extremity reflexes

•

en:decreased sensory nerve conduction velocity

•

en:decreased sensory and motor nerve amplitudes

•

en:difficulties in fine bimanual activities

•

en:difficulty walking in childhood

•

en:emg of affected limb shows denervation

•

en:dysphonia

•

en:eeg shows 3-hz spike-wave discharges

•

en:eeg shows 3-4-hz spike and multispike slow wave complexes

•

en:ectopic posterior pituitary (in some patients)

•

en:ectopic dorsal pontine transverse bundle of fibers forms the 'cap'

•

en:dysplastic cerebellum

•

en:dysplastic cerebellar gangliocytoma

•

en:dysmorphic corpus callosum

•

en:diffuse periventricular leukoencephalopathy

•

en:dysmetria (type i)

•

en:dyskinesia, episodic

•

en:dysarthria may occur

•

en:dysarthria (most common presenting symptom)

•

en:dorsal nerve roots and ganglia cells show degenerative changes

•

en:distal sensory loss to all modalities, lower limbs more affected than upper limbs

•

en:distal muscle wasting due to peripheral neuropathy

•

en:white matter abnormalities seen on mri which resolve over time

•

en:muscle weakness of limb

•

en:white matter hyperintensities in various brain regions

•

en:nerve conduction velocities (ncv) may be normal or mildly decreased sural nerve biopsy shows loss of both large and small myelinated fibers

•

en:neuronal loss in the purkinje cell layer of the cerebellar vermis

•

en:neuronal and vascular calcifications

•

en:neurologic sequelae of stroke

•

en:neurogenic bladder

•

en:neuroaxonal abnormalities

•

en:nerve paralysis

•

en:nerve biopsy shows hypomyelination

•

en:never able to walk

•

en:nerve biopsy shows axonal degeneration/regeneration

•

en:nerve biopsy often consistent with axonal neuropathy

•

en:necrotic process

•

en:myotonic seizures

•

en:myoclonus (in 1 family)

•

en:myoclonic seizure, refractory

•

en:neuronal migration defect

•

en:normal cognition (reported in some patients)

•

en:multiple sclerosis-like illness (516003.0001)

•

en:no visual fixation

•

en:optic ataxia (in a subset of patients)

•

en:onion bulb formation (1 family)

•

en:olivopontocerebellar atrophy

•

en:olfactory or auditory hallucinations

•

en:occipital headache

•

en:nystagmus, mild

•

en:no sensory defects

•

en:normal development until 6-18 months

•

en:no response to l-dopa treatment

•

en:no other neurologic deficits

•

en:no hippocampal sclerosis

•

en:no cognitive decline

•

en:normal sural nerve biopsy

•

en:normal intellectual function

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:multiple aneurysms

•

en:pachygyrias

•

en:limb hypertonia

•

en:low to normal range of nerve conduction velocity (ncv) (24-41 m/s)

•

en:lower motor neuron degeneration

•

en:low-lying cerebellar tonsils

•

en:loss of ability to walk later

•

en:white matter lesions (1 patient)

•

en:limited memory, attention, language

•

en:leukodystrophy (in 1 of 2 patients)

•

en:memory loss

•

en:less severe loss of vibration and position sensation

•

en:lack of psychomotor development (1 patient)

•

en:jerky limb movements

•

en:jacksonian seizure

•

en:ischemic infarct of brain

•

en:irregular spike and slow waves

•

en:memory impairment

•

en:mental retardation, in subgroup of patients

•

en:multifocal spike waves

•

en:misorientation of pyramidal fibers

•

en:mri shows generalized atrophy

•

en:motor regression

•

en:mosy patients become wheelchair-bound after 10 years

•

en:moderately thickened cortex

•

en:mitochondrial encephalopathy

•

en:mitochondrial abnormalities in nerve biopsy

•

en:mild psychomotor delay

•

en:mental retardation, mild to severe

•

en:mild mental decline

•

en:mental retardation (sometimes)

•

en:mental retardation (rare)

•

en:mental retardation (iq 45-75)

•

en:mental retardation (70%)

•

en:mental retardation, variable (in some patients)

•

en:mental retardation, moderate to severe (iq 35-50)

•

en:pachygyria, occipital

•

en:partial agenesis of corpus callosum (rare, in males)

•

en:intracellular accumulation of material resulting in curvilinear profiles on ultrastructural analysis

•

en:spastic tetraparesis

•

en:sural nerve biopsy shows loss of large and small myelinated axons

•

en:subcortical nodular lesions in perivascular white matter

•

en:subcortical hypomyelination

•

en:subcortical band or laminar heterotopia (in female carriers)

•

en:subacute neurologic deterioration

•

en:startle myoclonus

•

en:spasticity of pharyngeal muscles

•

en:symmetric spinal nerve root neurofibromas

•

en:spasticity (in some patients)

•

en:small, smooth cerebellum

•

en:sleep impairment, progressive

•

en:simplified cortical gyral pattern

•

en:severe psychomotor retardation from birth

•

en:sensory neuropathy affecting all modalities primarily affecting the lower limbs with some mild upper limb involvement

•

en:sural nerve biopsy shows remyelinating lesions after episodes

•

en:tfg- and tdp43-positive intraneuronal inclusions in some sensory and motor spinal cord neurons

•

en:sensory axonal neuropathy, mild

•

en:visual hallucinations may occur

•

en:left tenth thoracic nerve

•

en:left eighth thoracic nerve

•

en:facial nerve

•

en:coccygeal nerve

•

en:white matter vacuolization

•

en:white matter lesions in the basal ganglia

•

en:vestibulopathy, bilateral, progressive (onset in fourth or fifth decade)

•

en:tonic clonic seizures, infrequent (in one patient)

•

en:verbal delay (in some patients)

•

en:ventricular dilatation (29%)

•

en:upper motor neuron signs, early

•

en:tremor with febrile episodes (rare)

•

en:tremor is exacerbated by stress and exercise

•

en:transient, reversible neurologic deficits

•

en:sensory loss more severe for pain and temperature

•

en:sensory ataxic neuropathy

•

en:partial or complete absence of the cerebellar vermis consistent with dandy walker malformation

•

en:poor fine motor coordination

•

en:psychomotor regression (in some)

•

en:pseudotumor

•

en:proximal amyotrophy

•

en:prolonged somatosensory evoked potentials (seps)

•

en:progressive myoclonus epilepsy

•

en:prnp-immunoreactive cerebral amyloid angiopathy (in some patients)

•

en:poor communication

•

en:pyramidal tract signs (in some patients)

•

en:pontocerebellar atrophy

•

en:plaque, amyloid

•

en:periventricular leukomalacia

•

en:peripheral neuropathy has been reported in rare cases

•

en:patients 30-40 years old have hyperintense lesions in periventricular areas, the external capsule, basal ganglia, thalamus, and brainstem

•

en:partial seizures, simple and complex

•

en:psychomotor regression (onset within first year of life)

•

en:recurrent encephalopathy

•

en:sensory and motor axonal neuropathy

•

en:seizures (if left untreated)

•

en:semilobar hpe shows posterior interhemispheric fissure with rudimentary cerebral hemispheres and single ventricle

•

en:selective loss of cerebellar purkinje cells

•

en:seizure disorder

•

en:seizures (meb)

•

en:seizures (in some)

•

en:seizures (in 35%)

•

en:seizures, partial complex (rare)

•

en:reversible episodic ascending muscle weakness, paresthesias, and areflexia triggered by elevation of body temperature over 38.5 degrees c.

•

en:seizures, partial, often hemifacial

•

en:seizures, diurnal partial, rare (in some patients)

•

en:seizures, complex partial, episodic

•

en:segmental demyelination

•

en:secondary generalization occurs in about 33% of patients

•

en:scissors gait

•

en:rigidity (juvenile form)

•

en:intractable epilepsy

•

en:limited walking ability

•

en:intention tremor in those who survive

•

en:central nervous system involvement (in some patients)

•

en:cerebral calcification

•

en:cerebral atrophy, frontotemporal, progressive

•

en:cerebral atrophy

•

en:cerebellar vermis hypoplasia

•

en:cerebellar atrophy (in 1 family)

•

en:cerebellar ataxia (in 1 of 3 families)

•

en:cataplexy, paroxysmal weakness or paralysis

•

en:characteristic periodic eeg complexes (only in sporadic and familial cjd, not in variant cjd)

•

en:calcification of the falx

•

en:calcifications in white matter, basal ganglia, brainstem, cerebellum, and spinal cord

•

en:brain mri shows lesions in the basal ganglia

•

en:brain mri shows hypoplastic pituitary

•

en:brain imaging shows diffuse white matter abnormalities

•

en:basal ganglia lucencies

•

en:cerebral cortical and cerebellar atrophy (patient a)

•

en:chorea of all limbs

•

en:axonal features may coexist (normal ncv, axonal degeneration on biopsy)

•

en:cortical and subcortical regions involved

•

en:decreased myelination seen on mri

•

en:decreased distal vibratory sensation

•

en:decreased cerebellar folia

•

en:decreased brain volume (female)

•

en:cyst of septum pellucidum

•

en:cortical atrophy (rare)

•

en:cortical and subcortical hyperintensities

•

en:choroid plexus papilloma (in some patients)

•

en:continuous spike-waves during slow-wave sleep

•

en:intellect high (in some patients)

•

en:communication defects

•

en:cognitive impairment (in some patients)

•

en:cognition is spared

•

en:clumsiness in childhood

•

en:axonal sensory and motor peripheral neuropathy, severe

•

en:axonal degeneration/regeneration

•

en:decreased pain sensitivity

•

en:central nervous system

•

en:abnormal folding of the myelin sheath

•

en:abnormal cortical layering

•

en:hypothalamus

•

en:central neural pathway/tract

•

en:afferent nerve

•

en:cranial nerve

•

en:second cervical nerve

•

en:abnormal signals in the thalami seen on mri

•

en:right third sacral nerve

•

en:left first lumbar nerve

•

en:first cervical nerve

•

en:pyramidal system

•

en:dorsal root ganglion

•

en:white matter streaks

•

en:abnormal ocular motility

•

en:absence or atrophy of the putamen

•

en:axial hypotonia (rare)

•

en:anterior pituitary hypoplasia

•

en:autonomic instability (22%)

•

en:atrophy of cerebellum, brainstem, cervical spinal cord

•

en:atrophy and weakness of limb musculature

•

en:athetosis

•

en:articulation, unintelligible

•

en:arflexia (1 patient)

•

en:angiitis, cerebral

•

en:absent development

•

en:alobar hpe shows absence of interhemispheric cleavage and single ventricle

•

en:agyria (1 patient)

•

en:accumulation of neurofilaments within axons

•

en:absent superior division of oculomotor nerve and corresponding alpha motor neurons

•

en:absent rem sleep

•

en:absent or reduced sural nerve sensory responses

•

en:absent optic nerves, chiasm, and tracts

•

en:decreased pain response

•

en:complex partial seizures

•

en:decreased reflexes (in some patients)

•

en:headache, suboccipital, migraine-like (most common symptom) precipitated by coughing, sneezing, bending forward, lifting, neck extension

•

en:hyperactive startle reflex

•

en:hydrocephalus (uncommon)

•

en:hydrocephalus (less common)

•

en:hemorrhage

•

en:hemiplegic migraine

•

en:decreased vibration or position sense (in 3 patients)

•

en:headache

•

en:hypermotor automatisms

•

en:global cerebral atrophy, mild (in some patients)

•

en:gait impairment

•

en:frontotemporal atrophy, mild, seen on mri

•

en:frontotemporal/subcortical dementia

•

en:frontal cortical atophy

•

en:focal cortical dysplasia

•

en:hyperalgesia

•

en:hyperreflexia, lower limbs, mild

•

en:fifth ventricle

•

en:hypotonia (93%)

•

en:intellectual function may be high in milder cases

•

en:intellectual disability, progressive

•

en:individuals can stand or walk with support by 4 to 6 years of age

•

en:impaired fine motor skills

•

en:immature myelination

•

en:hypotonia (type i and type ii, infantile)

•

en:hypotonia, neonatal (> 90%)

•

en:hyperreflexia (some patients)

•

en:hypotonia, mild

•

en:hypoplasia of the ventral pons

•

en:hypoglycemic encephalopathy

•

en:hypertonia (type ii)

•

en:hypertonia, mild, transient

•

en:hyperreflexia (uncommon)

•

en:fine rapid hand tremor, 4-12 hz

•

en:hemiparesis, paroxysmal

•

en:fibrillation

•

en:delayed myelinization (in some patients)

•

en:developmental regression in about 50% of patients

•

en:developmental delay (seen in recessive form)

•

en:developmental delay (in some)

•

en:developmental delay (apparent after the first year of life)

•

en:developmental delay (100%)

•

en:delayed walking (less common)

•

en:delayed motor nerve conduction velocities

•

en:difficulty in spelling

•

en:facial-lingual fasciculations

•

en:delayed cognitive development (in some patients)

•

en:deficit in expressive language

•

en:defect in morphosyntactic rules

•

en:decrease in abstract thinking

•

en:decreased volume of the cerebral white matter

•

en:diastematomyelia (10% patients)

•

en:delayed development (about 25%)

•

en:diffuse swelling of cerebral white matter

•

en:emg shows evidence of denervation

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:extensive melanosis of leptomeninges, amygdala, and cerebellar hemispheres

•

en:expressive language delay

•

en:emg shows neurogenic findings

•

en:emg shows neurogenic changes

•

en:emg shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials

•

en:epilepsy, frontal lobe

•

en:dystonic posturing of the hands

•

en:dysgenesis or agenesis of the corpus callosum (in some)

•

en:dysautonomia

•

en:dysarthrias, spastic

•

en:drop attack

•

en:distal sensory loss (predominantly in lower limbs)

•

en:dystonia (57%)

•

en:distal muscle weakness and atrophy due to motor neuronopathy

•

en:upper limb ataxia

•

en:vcp-positive inclusions

•

en:upper limb postural tremor

•

en:upper limb hyperreflexia (some)

•

en:ubqln2- and tdp43-immunopositive inclusions in spinal motor, brainstem, and hippocampal neurons

•

en:upper and lower motor neuron degeneration

•

en:upbeat central vestibular nystagmus

•

en:uncoordinated movements

•

en:tremor, mild

•

en:visual changes

•

en:ventriculomegaly (variable)

•

en:right fifth sacral nerve

•

en:visual inattention

•

en:vocal cord paralysis has been reported

•

en:white matter abnormalities (rare)

•

en:white matter hypodensities on brain imaging

•

en:entire central nervous system

•

en:structure of central sensory visual system

•

en:left twelfth thoracic nerve

•

en:right coccygeal nerve

•

en:right spinal accessory nerve

•

en:tenth thoracic nerve

•

en:trochlear nerve

•

en:tonus dysregulation

◀

[F] [H]

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6940939 • caches: c1=10 c2=1005 c3=1

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]