Diko : en:hypocalcemic tetany

(id=6822765)

en:hypocalcemic tetany

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0151940

•

umls:C4014063

Inhib

⊗

›

fièvre

(surexcitation)

•

fièvre

(trouble de l'âme)

•

épiphyse

(os)

Associations d'idées

[F]

›

1000

en:lethal neonatal spasticity

•

en:degenerative disorder of muscle

•

en:acquired hypotonia

•

en:vocal cord paralysis has been reported

•

en:upbeat central vestibular nystagmus

•

en:sleep pattern disturbance

•

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

•

en:seizures, hypoglycemic (in some patients)

•

en:reduced sensory nerve conduction velocities (in patients with hsan2d)

•

en:pachygyria with preferential frontoparietal involvement (meb)

•

en:ossification of the faux cerebri (less common)

•

en:normal, timely language development

•

en:neuronal loss in basal ganglia

•

en:neurologic regression around age 3 months

•

en:neurologic abnormalities in about 7%

•

en:midbrain atrophy

•

en:memory defects

•

en:lesions in the caudate and putamen

•

en:impaired manual dexterity

•

en:gliosis (27%)

•

en:frontotemporal lobar atrophy with 'knife-edge' distinction

•

en:dysmetrias, cerebellar

•

en:dilated perivascular spaces

•

en:areflexia (in some patients)

•

en:actin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neurons

•

en:acute myopathy

•

en:specific nerves and structures

•

en:functional subsytems of the pns

•

en:trunk may be involved later

•

en:stereotypic movements

•

en:small size of the left hippocampus gyri

•

en:sleep disorder (rare)

•

en:rapid onset

•

en:prominent sensory loss, distal

•

en:periventricular gray matter heterotopia

•

en:parkinsonism (in some)

•

en:open spina bifida (myelomeningocele, 182940)

•

en:neurologic regression following seizure onset

•

en:motor neuropathy (1 family)

•

en:loss of deep tendon reflexes (later)

•

en:leukodystrophy (in 1 of 2 patients)

•

en:global reduction in cerebral blood flow on pet scan

•

en:eeg shows generalized polyspike and wave discharges (4-6 hz)

•

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

•

en:cerebral atrophy, progressive, from anterior to posterior

•

en:aphasia

•

en:accumulation of pas-positive diastase-resistant neuronal inclusion bodies in the cerebral cortex (collins bodies)

•

en:absent or immature dentate nuclei

•

en:disorder of muscle, unspecified; forearm

•

en:left spinal accessory nerve

•

en:dorsal root ganglion

•

en:white matter rarefaction and cystic degeneration

•

en:visual changes

•

en:variable outcome after acute illness

•

en:sympathetic system dysfunction

•

en:stenosis of the jugular foramen

•

en:slow reactions

•

en:simplified gyral pattern (in one patient)

•

en:seizure disorder

•

en:seizures (rare)

•

en:progressive spastic diplegia to quadriplegia

•

en:praxis

•

en:patchy axonal neuropathy

•

en:nerve biopsy shows axonal degeneration

•

en:mental retardation (reported in 1 family)

•

en:mental retardation (in type iia)

•

en:low apparent diffusion coefficient (adc) values

•

en:impaired balance (2 patients)

•

en:hypotonia (96%)

•

en:has tingling sensation

•

en:finger dysmetria

•

en:extensor plantar responses (later)

•

en:dysdiadochokinesis (1 family)

•

en:delayed psychomotor development, severe (in 2 of 6 patients)

•

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

•

en:clusters of axonal regeneration

•

en:cerebellar hypoplasia predominantly affecting the vermis

•

en:broad-based gait

•

en:biopsy shows foamy lipid-laden macrophages

•

en:axonal neuropathy (in 2 of 3 families)

•

en:autonomic symptoms

•

en:action myoclonus (triggered by voluntary movements)

•

en:accumulation of neurofilaments within axons

•

en:absence of sensory action potentials

•

en:abnormal cortical layering

•

en:disorder of muscle, unspecified; pelvic region and thigh

•

en:sural nerve biopsy shows lack of myelinated fibers (rare)

•

en:superficial laminar spongiosis

•

en:spect scan may show hypermetabolism of the temporal lobe

•

en:seizures (1 patient)

•

en:parkinsonism, l-dopa responsive

•

en:parenchymal neuromelanosis

•

en:occasional early 'onion' bulb formations

•

en:neurobehavioral changes associated with hyperammonemia

•

en:myelomeningocele

•

en:multifocal epileptic activity

•

en:misorientation of pyramidal fibers

•

en:hypoplastic corpus callosum (in some patients)

•

en:gait abnormalities (less common)

•

en:cortical and subcortical neuronal loss in the frontal and temporal regions

•

en:confusion

•

en:burning pain, episodic, affecting distal lower extremities and hands

•

en:brain imaging shows calcification of the dentate nucleus

•

en:axonal regeneration

•

en:areflexia of lower limbs

•

en:anosmia

•

en:abnormal spike waves

•

en:very long-chain acyl-coa dehydrogenase deficiency

•

en:left eleventh thoracic nerve

•

en:secondary myopathy

•

en:thermosensitive neuropathy

•

en:speech and language delay (rare)

•

en:seizures, generalized, may occur

•

en:reduced consciousness

•

en:psychomotor arrest and regression

•

en:prominent autonomic manifestations

•

en:perseveration

•

en:patients may have no structural abnormalities in the central nervous system

•

en:patients 20-30 years old have hyperintense lesions on t2-weighted mri in the frontal and anterior temporal lobes

•

en:normal cognition (1 patient)

•

en:mental retardation (1 family)

•

en:lower extremity weakness with febrile episodes (rare)

•

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

•

en:increased muscle tone in the lower limbs

•

en:impaired vibration sensation at ankles

•

en:hypoglycemic coma

•

en:hydrocephalus (less common)

•

en:eeg with focal discharge

•

en:eeg abnormalities in 20-50%

•

en:dysarthria (1 patient)

•

en:distal sensory loss of vibration and proprioception

•

en:degeneration of the dentatorubral and pallidoluysian systems

•

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

•

en:decreased motor and sensory nerve conduction velocities

•

en:cerebellar medulloblastoma (rare)

•

en:muscle weakness conditions

•

en:pseudohypoparathyroidism type 1c

•

en:velopharyngeal insufficiency

•

en:hamartoma of muscle

•

en:swelling of the deep white matter seen on mri

•

en:sural nerve biopsy shows unmyelinated axons (in some patients)

•

en:spinal tract degeneration

•

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

•

en:segmental sensory loss, especially of pain and temperature

•

en:pyramidal signs (21% of patients)

•

en:psychomotor retardation, severe to profound

•

en:neuropsychologic impairment

•

en:muscle weakness

•

en:mri may be normal, especially in type iib

•

en:mild cortical atrophy on ct or mri

•

en:low densities in the basal ganglia similar to leigh syndrome (256000)

•

en:loss of motor neurons in the spinal cord

•

en:loss of dorsal root ganglion cells

•

en:leukodystrophy, demyelinating

•

en:high pain threshold

•

en:focal clonic seizure

•

en:dysmorphic corpus callosum

•

en:diffuse slowing

•

en:dermoid cyst

•

en:decreased vibration sense in the lower limbs

•

en:cognitive decline (1 patient)

•

en:brainstem hypoplasia (1 patient)

•

en:autism (rare)

•

en:absence of spontaneous movements

•

en:neuritis

•

en:central nervous system neoplasm

•

en:cns component

•

en:toxic neuromuscular junction disorder

•

en:hereditary myopathy associated with hydrocephalus

•

en:upper limbs may show hyperreflexia

•

en:unintelligible speech, vocalizations, grunting

•

en:sleep disturbances (in some patients)

•

en:simplified gyral pattern (1 patient)

•

en:seizures, multiple types

•

en:rigidity (juvenile form)

•

en:no language development

•

en:mri shows cerebral atrophy

•

en:less severe loss of unmyelinated fibers

•

en:lesions in the anterior pituitary (less common)

•

en:involuntary movements, asymmetric

•

en:intracellular lewy bodies

•

en:intermittent, transient episodes of worsening of ataxia

•

en:impairment of balance

•

en:hypotonia at birth

•

en:facial muscle weakness

•

en:episodes typically occur several times a week

•

en:emg shows evidence of denervation

•

en:eeg shows 3-4-hz spike waves

•

en:dysphasia

•

en:distal sensory loss of proprioception and vibration sense

•

en:distal muscle weakness may also occur

•

en:cerebellar hypoplasia, particularly of the hemispheres

•

en:cerebellar herniation (rare)

•

en:approximately 30% of patients show normal early development

•

en:spasticity (later)

•

en:severe speech delay

•

en:pseudobulbar palsy (e.g. involuntary weeping or laughter)

•

en:pontine dysraphia

•

en:neuroaxonal abnormalities

•

en:mental retardation, moderate (in sister)

•

en:limb spasticity

•

en:globular thalamus (1 patient)

•

en:epileptic encephalopathy

•

en:electroencephalogram abnormal

•

en:dystonia 18 (disorder)

•

en:distal limb muscle weakness due to peripheral neuropathy (lower and sometimes upper limbs are affected)

•

en:distal hyporeflexia

•

en:brain imaging shows white-matter hypodensities and demyelination

•

en:abnormality of ocular smooth pursuit

•

en:speech difficulties (48%)

•

en:secondary hand muscle weakness predominating at the wrist and finger extensor muscles

•

en:quadriplegia during fever

•

en:psychomotor regression, progressive

•

en:progressive cognitive decline following normal development in childhood (in some patients)

•

en:primitive reflexes (palmomental, snout, glabellar)

•

en:mild cognitive decline (1 patient)

•

en:malformations of the mid- and hindbrain

•

en:hypoplastic olfactory lobes

•

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

•

en:high-steppage gait

•

en:frontotemporal dementia (in 30% of patients)

•

en:fine motor delay

•

en:dysarthria (in some patients)

•

en:cortical and subcortical hyperintensities

•

en:autonomic dysfunction may occur

•

en:auditory auras

•

en:atrophy, thin hemisphere

•

en:abnormal cortical gyration

•

en:upper limb involvement

•

en:spongy degeneration

•

en:sleep-onset rem

•

en:scant iron deposition in the brain (1 family)

•

en:regenerative nerve sprouting

•

en:pseudobulbar symptoms (uncontrolled laughter, weeping)

•

en:normal early psychomotor development

•

en:nodding of head

•

en:myelination defect

•

en:mixed axonal polyneuropathy

•

en:hypoplastic/atrophic corpus callosum (55%)

•

en:hypnapompic hallucinations

•

en:gilles de la tourette syndrome (reported in 1 patient)

•

en:epilepsy, refractory (onset in adolescence or young adulthood)

•

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

•

en:difficulties with equilibrium

•

en:delay in gross motor development due to weakness

•

en:decreased vibratory sense (less common)

•

en:cognitive decline, rapid

•

en:cerebellar and brainstem atrophy, mild (1 patient)

•

en:candidal meningitis (in some patients)

•

en:autonomic dysregulation

•

en:atypical absence, atonic/tonic, or tonic-clonic seizures

•

en:abducens nerve palsy (cn vi)

•

en:myalgia

•

en:right fifth lumbar nerve

•

en:left first thoracic spinal nerve

•

en:first cervical nerve

•

en:stapedial myoclonus

•

en:swelling of the cerebral white matter

•

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

•

en:spinal cord atrophy (rare)

•

en:small rotary component may be present

•

en:pulsating quality

•

en:mri shows absence of the facial nerve

•

en:mild mental deterioration

•

en:loss of independent ambulation within a few years

•

en:imaging shows signal abnormalities in basal ganglia

•

en:floppy infant

•

en:first dorsal interossei muscle atrophy

•

en:fetal akinesia deformation sequence

•

en:encephalocele of orbit

•

en:cortical dysgenesis, complex

•

en:complex partial seizures (in some patients)

•

en:cobblestone lissencephaly, type ii (wws)

•

en:cerebral atrophy, mild

•

en:right coccygeal nerve

•

en:widening of the spinal canal

•

en:white matter streaks

•

en:waddling gait

•

en:visceral neuromyopathy

•

en:speech limited to single word or no words

•

en:spasmodic torticollis

•

en:slow paraparetic gait

•

en:simplified gyral pattern (in 1 of 2 sibs)

•

en:severe cognitive impairment

•

en:profound intellectual disabilities

•

en:polymicrogyria, predominantly frontal and perisylvian

•

en:partial response to pyridoxine

•

en:no sensory defects

•

en:neural tube defects may occur

•

en:leukoencephalopathy, severe

•

en:interictal eeg shows 3-4 hz general spike-wave complexes

•

en:hypoplasia of olfactory tract

•

en:hypertonia (childhood)

•

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

•

en:flat pons

•

en:fine motor task disruption

•

en:epilepsy, temporal lobe

•

en:emg shows continuous motor unit firing at rest

•

en:dilatation of the lateral ventricles (in one family)

•

en:developmental arrest, 2nd year of life

•

en:demyelinating polyneuropathy

•

en:decerebrate or decorticate posturing late

•

en:dandy-walker malformation (rare)

•

en:cognitive impairment, mild (44%)

•

en:cognitive deficits may occur

•

en:cognitive decline in adulthood

•

en:cognitive decline (later in life)

•

en:chiari type i malformation (in some patients)

•

en:cerebellar hypoplasia, severe (wws)

•

en:cerebellar hypoplasia, mild asymmetric (rare)

•

en:cerebellar atrophy, progressive (cerebellar vermal atrophy before cerebral atrophy)

•

en:brisk reflexes

•

en:brainstem white matter lesions

•

en:brainstem damage

•

en:axonal swelling of spinal nerve roots and cranial nerves

•

en:axonal motor neuropathy (in about 50%)

•

en:arhinencephaly (1 patient)

•

en:muscle tone abnormalities

•

en:myomatous neoplasm

•

en:subcortical nodular lesions in perivascular white matter

•

en:retrocollis

•

en:reflex epilepsy, photosensitive

•

en:psychomotor delay, severe

•

en:poor language and speech development

•

en:poor cognition

•

en:polymicrogyria, temporo-occipital

•

en:pachygyria, bilateral frontotemporal

•

en:normal early developmental milestones

•

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

•

en:movement abnormalities of the extremities

•

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

•

en:magnetic resonance spectroscopy shows increased lactate in white matter

•

en:long-tract signs

•

en:involuntary movements of extremities, neck, trunk, and/or face

•

en:inarticulate speech delayed gross motor skills

•

en:global developmental delay, variable severity

•

en:gliosis of the white matter

•

en:frontotemporal leukoencephalopathy

•

en:emg shows decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation

•

en:ectopic posterior pituitary

•

en:dementia may occur

•

en:cognitive impairment, mild (in 2 of 3 patients)

•

en:central canal malformation

•

en:brain imaging shows lesions in the thalami, brainstem, and cerebellum

•

en:brainstem hypoplasia (in some patients)

•

en:bilateral signals in the basal ganglia

•

en:atrophy of the cerebellar vermis seen on mri

•

en:astrogliosis (in some patients)

•

en:abnormal ocular motility

•

en:brain stem

•

en:carpopedal spasm

•

en:spinal nerve

•

en:rotator cuff impingement syndrome

•

en:upper and lower limb involvement

•

en:tremor of the upper limb

•

en:seizure disorder (homozygote)

•

en:retrocerebellar cyst

•

en:resting tremor (in some patients)

•

en:poor myelination

•

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

•

en:increased falls

•

en:inability to walk unsupported

•

en:hemiparesis

•

en:gait unsteady

•

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

•

en:elevated interferon levels in cerebrospinal fluid

•

en:eeg shows centrotemporal spike-wave discharges

•

en:developmental delay (1 family)

•

en:delayed intellectual development

•

en:cortical atrophy (in some patients)

•

en:chorea (in some patients)

•

en:anterior horn cell impairment

•

en:abnormal purkinje cells

•

en:abnormal motor and sensory nerve conduction

•

en:medial tibial stress syndrome

•

en:lactation tetany

•

en:white matter vacuolization

•

en:thinning of the cerebellopontine tracts

•

en:subcortical cysts may occur elsewhere

•

en:normal large myelinated fiber sensory modalities

•

en:neural tube defect (in some patients)

•

en:extrapyramidal signs, mild

•

en:episodic vomiting

•

en:developmental delay, variable

•

en:brain mri shows diffusion abnormalities

•

en:anterior pachygyria and posterior agyria

•

en:underdeveloped corpus callosum (3 patients)

•

en:strokes due to coagulopathy

•

en:sinus pericranii (rare)

•

en:proximal muscle weakness in lower limbs

•

en:posterior fossa malformations

•

en:porencephalic cyst

•

en:periventricular nodular heterotopia

•

en:occipital lobe infarct (rare)

•

en:nerve biopsy shows axonal neuropathy

•

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

•

en:lower motor neuron signs, later

•

en:intellect high (in some patients)

•

en:hypotonia, profound muscular (in some patients)

•

en:hyperactive deep tendon reflexes in early stage

•

en:holoprosencephaly (1 patient)

•

en:frequency of 1 to 20 episodes per day

•

en:fasciculation

•

en:dystonia (14% of patients)

•

en:dysarthria, mild (1 family)

•

en:distal sensory loss, panmodal (retained in some patients)

•

en:diffuse spongiform leukoencephalopathy

•

en:difficulties in fine bimanual activities

•

en:developmental delay (rare)

•

en:developmental delay, mild

•

en:cognitive impairment, gradual onset

•

en:cerebellar signs (may be permanent in 50% of patients)

•

en:arachnoid cysts of the cerebellopontine angle (reported in 1 family)

•

en:toxic myopathy

•

en:bulbar signs

•

en:trigeminal nerve

•

en:right tenth thoracic nerve

•

en:right second thoracic nerve

•

en:lumbar nerve

•

en:glossopharyngeal nerve

•

en:eighth cervical nerve

•

en:syphilis of muscle

•

en:pyramidal system

•

en:myotonia levior

•

en:myositis ossificans of upper arm due to burn

•

en:myomalacia

•

en:muscle spasms of head and/or neck

•

en:muscle abscess of pelvis

•

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

•

en:white matter hyperintensities

•

en:white matter abnormalities in the periventricular regions (1 patient)

•

en:visual auras

•

en:vertical orientation of hippocampus

•

en:ventricular dilatation (29%)

•

en:vasculopathy of the small arteries penetrating the white matter

•

en:upper motor involvement (some patient)

•

en:upper limb weakness

•

en:upper and lower motor neuron degeneration

•

en:tussive syncopes

•

en:trigeminal neuralgia

•

en:tremor of palate

•

en:tremor, variable

•

en:tonus dysregulation

•

en:tonic seizures, refractory

•

en:t2-weighted hyperintensities in the basal ganglia

•

en:syringomyelia (in some patients)

•

en:symptoms occur at rest

•

en:swollen achromatic cells (pick cells)

•

en:sural nerve biopsy shows decrease in myelinated fibers

•

en:sudden onset of neuropsychiatric symptoms

•

en:subnormal intelligence (62%)

•

en:subependymal pseudocyst

•

en:subependymal heterotopic nodules

•

en:subependymal hemorrhage

•

en:subcortical leukodystrophy

•

en:subacute neurologic deterioration

•

en:stroke-like symptoms

•

en:spinal neurofibromas (64%)

•

en:spinal cysts (in some patients)

•

en:speech delay

•

en:spastic quadriplegia, severe

•

en:spastic dystonia

•

en:spastic diplegia (1 patient)

•

en:spasticity (patient a)

•

en:spasticity, mainly in the lower limbs

•

en:small cerebellum (especially vermis)

•

en:slightly reduced nerve conduction velocities

•

en:sleep disorder

•

en:simplified cortical gyral pattern

•

en:signal abnormalities in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles seen on mri

•

en:shorter daily total sleep times compared to age-matched controls

•

en:severely impaired or absent speech

•

en:sensory impairment, non length-dependent

•

en:sensory ataxic neuropathy

•

en:sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)

•

en:seizures (tetany)

•

en:seizures (reported in 1 family)

•

en:seizures (in 35%)

•

en:seizures (about 50% of patients)

•

en:seizures, nocturnal, usually occur in daily clusters

•

en:see spg5a (270800)

•

en:schizencephaly

•

en:relative sparing of language

•

en:recurrent bacterial meningitis

•

en:rare secondary generalization

•

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

•

en:quantal content declines with activity

•

en:quadriplegia, episodic

•

en:pyramidal tract involvement

•

en:pyramidal features (rare)

•

en:psychomotor regression (in milder cases)

•

en:progressive neurologic deterioration

•

en:progressive gait ataxia

•

en:profound mental retardation and hypotonia in survivors

•

en:prion protein-positive senile plaques

•

en:porencephaly (in some patients)

•

en:poor speech or no speech

•

en:poor coordination (83%)

•

en:poor concentration

•

en:pontine hypoplasia, mild

•

en:polymicrogyria, anterior to posterior gradient

•

en:pituitary agenesis (rare)

•

en:periventricular white matter hyperintensities, bilateral

•

en:periventricular white matter changes (meb)

•

en:peripheral demyelinating polyneuropathy

•

en:patchy diffuse hyperintensities on t2-weighted mri

•

en:paraparesis, spastic

•

en:painful crises precipitated by exercise, fatigue, or stress

•

en:opsoclonus

•

en:open operculum

•

en:onset may be triggered by emotional stress, fever, exercise, exposure to heat

•

en:onion bulb formations

•

en:occipital meningocele

•

en:occasional onion bulb formations

•

en:occasional degeneration of the globus pallidus

•

en:no voluntary movement

•

en:no seizures

•

en:no pick bodies or lewy bodies

•

en:normal motor conduction studies (initially)

•

en:normal intelligence to mild or moderate mental retardation

•

en:normal early development

•

en:nocturnal occurrence

•

en:neuropathology shows alpha-synuclein-containing cytoplasmic inclusions in glial cells

•

en:neuroaxonal dystrophies

•

en:nerve biopsy may show demyelination and remyelination

•

en:myokymia, interictal

•

en:myoclonic-astatic seizures

•

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

•

en:muscle biopsy shows decreased size of nerve terminals

•

en:multiple lesions in the white matter

•

en:mri shows increased t2-weighted signals in the globus pallidi

•

en:motor neuron disease

•

en:motor automatisms

•

en:mental retardation if untreated

•

en:mental retardation from rapid mental regression

•

en:mental retardation (secondary to intracranial bleed)

•

en:mental retardation (7%)

•

en:mental retardation, severe (meb)

•

en:mental retardation, moderate to severe

•

en:mental retardation, mild to moderate (in some patients)

•

en:mental retardation, mild to moderate (20% of patients)

•

en:mental retardation, mild (rare)

•

en:mental retardation, mild (1 family)

•

en:mental retardation, mild-borderline, nonprogressive

•

en:megacisterna magna (rare)

•

en:may progress to involve proximal muscles

•

en:lower motor neuron involvement after long disease duration

•

en:loss of spontaneous movements

•

en:loss of purkinje cells

•

en:loss of large and small myelinated fibers seen on nerve biopsy

•

en:loss of independent ambulation approximately 30 years after onset

•

en:loss of ambulation

•

en:locomotor delay (early-onset form)

•

en:lissencephaly (anterior to posterior increasing gradient of severity and more prominent in posterior brain regions)

•

en:limited expressive language

•

en:leukoencephalopathy

•

en:leg stiffness

•

en:late ambulation

•

en:late-onset spinocerebellar degeneration

•

en:large sella turcica

•

en:language delay/disorder

•

en:lack of spontaneous movement

•

en:lack of speech (in severe cases)

•

en:irregular cortical ribbon

•

en:iron-containing deposits in various brain regions

•

en:ipsilateral cranial nerve hypoplasia

•

en:involuntary writhing movements

•

en:intraspinal neoplasm

•

en:interictal eeg may show nonspecific changes in 15 to 20%

•

en:interictal downbeat nystagmus

•

en:insomnia, refractory

•

en:increased cerebral lactate

•

en:incoordination of trunk and limbs

•

en:immobile

•

en:ictal eeg showed partial seizures with frontal lobe origin

•

en:hypotonic seizures

•

en:hypotonic

•

en:hypotonia, mild, transient

•

en:hypoplastic pons

•

en:hypoplastic anterior pituitary (in some patients)

•

en:hypoplasia of the optic chiasm

•

en:hypnagogic hallucinations

•

en:hypertonia (after age 2 years)

•

en:hypertonia, mild, transient

•

en:hyperreflexia (uncommon)

•

en:hyperreflexia, lower limbs, mild

•

en:hyperexcitability of peripheral nerve fibers

•

en:hyperactive startle reflex

•

en:gray matter heterotopia (in some patients)

•

en:generalized myelin loss

•

en:generalized dystonia

•

en:gait and limb ataxia

•

en:fine motor skills delayed

•

en:facial myokymia, mild

•

en:extrapyramidal muscular rigidity

•

en:external capsule and claustrum may be involved

•

en:epileptic drop attack

•

en:epilepsy, frontal lobe

•

en:encephalopathy, acute, episodic

•

en:encephalocele (single case)

•

en:empty sella syndrome

•

en:emg shows myogenic pattern with decreased motor unit potential amplitude

•

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

•

en:emg shows chronic denervation

•

en:emg shows bursts of activity originating in the masseter muscle and spreading to the orbicularis oris and oculi muscles

•

en:electrophysiologic studies show repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:eeg shows rolandic sharp waves and spikes

•

en:eeg shows multifocal discharges

•

en:early severe fetal akinesia sequence

•

en:dystonia (1 family)

•

en:dystonia, progressive

•

en:dyslexia

•

en:dysgenesis of the corpus callosum (1 patient)

•

en:dural and choroid plexus calcifications

•

en:dream enactment

•

en:disturbed myelination affecting the periventricular and subcortical white matter

•

en:distal tapering of the carotid, cerebellar, and meningeal arteries

•

en:distal sensory impairment (20-50%)

•

en:distal nerve biopsy shows decreased numbers of small myelinated and unmyelinated fibers

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:diffuse white matter loss

•

en:diffuse hyporeflexia (later)

•

en:diffuse hyperintense signal abnormalities in the white matter (in children)

•

en:diffuse demyelination (increased signal intensity in t2-weighted images, especially frontal lobes)

•

en:diffuse brain swelling occurs during coma

•

en:difficulty walking on heels

•

en:developmental delay (uncommon)

•

en:developmental delay (seen in recessive form)

•

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

•

en:delay of gross motor function

•

en:delayed walking and running in early childhood

•

en:delayed psychomotor development (in 1 family)

•

en:delayed psychomotor development, variable

•

en:delayed motor development (secondary to skeletal abnormalities)

•

en:delayed motor development, severe

•

en:delayed developmental milestones

•

en:delayed ambulation

•

en:defects in auditory cue processing

•

en:deep sensory impairment, mild to moderate

•

en:decreased nerve conduction velocity

•

en:decreased need for sleep

•

en:decreased motor nerve conduction velocity (ncv) (15-30 m/s)

•

en:decreased miniature endplate potentials

•

en:decreased large myelinated fibers

•

en:decreased cerebellar folia

•

en:csf protein content increased or at upper limit of normal

•

en:crawling and standing not achieved

•

en:communication defects

•

en:cold-induced hand cramps

•

en:cognitive impairment, mild (1 patient)

•

en:cognitive decline in older patients

•

en:coarse tremors

•

en:clonus

•

en:choroid plexus papilloma (in some patients)

•

en:cerebral infarction

•

en:cerebral cortex myoclonus

•

en:cerebral atrophy (in 1 family)

•

en:cerebral atrophy, frontotemporal, progressive

•

en:cerebellar signs may develop

•

en:cerebellar dysfunction, progressive

•

en:cerebellar atrophy (in some patients)

•

en:cerebellar atrophy, mild (1 patient)

•

en:cavum septum pellucidum atrophy

•

en:catatonic behavior

•

en:cataplexy, paroxysmal weakness or paralysis

•

en:brain small vessel disease with hemorrhage

•

en:brain mrs shows reduced choline and inositol peaks in the parieto-occipital white matter

•

en:brain mri shows cerebellar atrophy

•

en:brain imaging shows diffuse white matter abnormalities

•

en:brain atrophy (1 family)

•

en:brainstem may show neuronal loss

•

en:blake's pouch (rare)

•

en:bilateral perisylvian cortical malformations on mri

•

en:basal lamina 'onion bulb' formation

•

en:axonal regeneration on nerve biopsy

•

en:axonal neuropathy

•

en:axonal loss and gliosis in the corticospinal tracts

•

en:autonomic dysfunction (in patients with hsan2d)

•

en:autism or autistic features

•

en:associated with syringomyelia (186700)

•

en:arrested hydrocephalus (rare)

•

en:areflexia of the lower limbs decreased nerve conduction velocities

•

en:anterior pituitary hypoplasia

•

en:anterior basal encephalocele

•

en:anosmia (1 patient)

•

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

•

en:agenesis of the corpus callosum (variable)

•

en:affected children are unable to sit without support

•

en:abnormal rapid eye movement sleep

•

en:abnormality of the cranial nerves

•

en:'globoid multinucleated cells' in brain tissue

•

en:bethlem myopathy 1

•

en:nerve endings

•

en:steroid myopathy

•

en:disorder of muscle, unspecified; ankle and foot

•

en:progressive bulbar palsy

•

en:abnormal synaptic transmission

•

en:polyneuritis

•

en:muscle pain adverse event

•

en:sixth thoracic nerve

•

en:second lumbar nerve

•

en:sacral nerve

•

en:right seventh thoracic nerve

•

en:left third sacral nerve

•

en:left tenth thoracic nerve

•

en:left fifth lumbar nerve

•

en:viral myalgia

•

en:traumatic injury of skeletal muscle

•

en:neuropil

•

en:myositis ossificans of thigh due to burn

•

en:myopathy due to disseminated lupus erythematosus

•

en:muscle cachexia

•

en:kocher-debre-semelaigne syndrome

•

en:hypocalcemia of late pregnancy or lactation

•

en:esophageal spasm

•

en:entire peripheral nervous system

•

en:white matter lacks axons and myelin

•

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

•

en:white mater abnormalities in the posterior periventricular region

•

en:visual blackouts (stage 1)

•

en:variable delay (iq range 52-104)

•

en:vacuolization (patient a)

•

en:upper motor neuron signs

•

en:tremor (in some patients)

•

en:tremor (3 patients)

•

en:tremor (1 patient)

•

en:tremor, action (arms, tongue, head, legs and trunk)

•

en:tonic convulsion

•

en:thick, maloriented superior cerebellar peduncles

•

en:thalamic neuronal loss, especially in the medial dorsal nucleus

•

en:tetraplegic spasticity

•

en:temporal lobe seizures (in 1 patient)

•

en:t2-weighted hyperintensities in deep brain regions

•

en:synkinesis

•

en:syncope

•

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

•

en:subcortical heterotopia

•

en:stroke (rare)

•

en:start with tonic posturing

•

en:staring spells

•

en:spheroid formation (in some patients)

•

en:speech and language disorder

•

en:speech and language delay, severe

•

en:spastic quadriplegia, residual mild-to-severe (in some patients)

•

en:spastic paraparesis (1 patient)

•

en:small myelinated fibers

•

en:small brain with no other malformation see on mri

•

en:slow gross motor activity

•

en:short pons

•

en:sensory neuropathy has been reported

•

en:sensory impairment (in some patients)

•

en:seizures (50%)

•

en:seizures, tonic-clonic (1 patient)

•

en:seizures, severe, intractable

•

en:seizures, refractory

•

en:seizures, partial with secondary generalization, focal at onset, usually motor

•

en:seizures, partial, unilateral

•

en:segmental callosal hypoplasia, mild

•

en:secondary axonal damage

•

en:recurrent meningitis

•

en:rapid, jerky movements

•

en:pyramidal signs (1 family)

•

en:proximal amyotrophy

•

en:progressive cerebellar ataxia

•

en:posterior fossa abnormalities (rare)

•

en:poor school performance

•

en:poor fine motor coordination

•

en:poor delineation of cerebral cortical regions

•

en:polymicrogyria (reported in 1 patient)

•

en:polymicrogyria, usually frontal (in some patients)

•

en:periventricular white matter gliosis (in some patients)

•

en:peripheral sensory neuropathy, severe

•

en:peripheral neuropathy (1 patient)

•

en:peripheral hypertonia

•

en:pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation

•

en:patchy demyelination of subcortical white matter

•

en:partial epilepsy

•

en:partial agenesis of the corpus callosum (rare)

•

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

•

en:pachygyrias

•

en:occipital encephalocele (in some patients)

•

en:nystagmus, mild

•

en:no onion bulb formations

•

en:no language

•

en:normal intelligence in iib

•

en:normal cognition (reported in some patients)

•

en:normal brain mri or ct scan

•

en:nonspecific leukoencephalopathy (52%)

•

en:nocturnal seizures (in some patients)

•

en:neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum

•

en:neuropathologic examination shows extensive spongiosis and gliosis

•

en:neuronal loss in central nervous system

•

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

•

en:neurologic involvement (in some patients)

•

en:neuroimaging shows cortical atrophy

•

en:myoclonus (less common)

•

en:muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy

•

en:multifocal spikes and progressive slowing of background activity seen on eeg

•

en:mri shows hypointensity of the thalami early-on

•

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

•

en:mouth movements

•

en:motor neuron disease, lower

•

en:motor and vocal tics

•

en:mixed demyelinating and axonal polyneuropathy (rare)

•

en:mirror movements, involuntary, usually of the upper limb and hand

•

en:mild structural abnormalities seen mri (in some patients)

•

en:mild distal sensory impairment

•

en:mild cognitive deterioration in adults

•

en:mild axonal peripheral neuropathy (in some patients)

•

en:mild-moderate ventricular dilatation

•

en:migraine headache (less common)

•

en:mental retardation by the age of 7 years

•

en:mental retardation (6%)

•

en:mental retardation (47%)

•

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

•

en:mental retardation, moderate to severe (10-15% of patients)

•

en:mental retardation, moderate to profound

•

en:mental retardation, mild to moderate (in 12%)

•

en:mental retardation, mild (1 patient)

•

en:mental retardation, mild (18%)

•

en:mental retardation, mild, some patients (iq 70-80)

•

en:markedly delayed nerve conduction velocities

•

en:lower limbs more severely affected than upper limbs

•

en:loss of myelin in the pyramidal tracts

•

en:loss of myelinated fibers seen on nerve biopsy

•

en:loss of myelin

•

en:limb dystonia (18%)

•

en:lethargy, neonatal

•

en:lesions show signal increase on t2- and signal decrease on t1-weighted images

•

en:lesions in the basal ganglia

•

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

•

en:language delay (55%)

•

en:lack of volitional movement

•

en:lack of verbal communication

•

en:lack of independent ambulation

•

en:lack of developmental development

•

en:irritation

•

en:iron deposition in the globus pallidus (variable)

•

en:involuntary movements may be precipitated by exertion or anxiety

•

en:intractable epilepsy

•

en:intracranial lipoma (cerebello-pontine)

•

en:intracerebral cysts (in some patients)

•

en:intellectual disability (in most patients)

•

en:infantile spasm

•

en:increased tolerance to pain

•

en:increased csf protein with normal cell count

•

en:inability to run

•

en:impaired distal vibration sensation

•

en:impaired balance

•

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

•

en:hypsarrhythmia (1 patient)

•

en:hypoplastic cerebellar vermis (rare)

•

en:hypoplasia of the posterior corpus callosum (in some patients)

•

en:hypoplasia of the brainstem

•

en:hypokinesia

•

en:hypodensity of cerebral white matter seen on mri

•

en:hypocalcemic seizures

•

en:hyperintense signaling of dorsal aspect of spinal cord seen on mri (inversion recovery images)

•

en:hydrocephalus (rare)

•

en:hydranencephaly

•

en:hemihypoasthesia

•

en:headache is unilateral

•

en:headaches, severe, unilateral

•

en:gowers sign

•

en:generalized seizures

•

en:gait imbalance

•

en:fusion of the left and right thalami

•

en:frontotemporal hypoplasia

•

en:frontotemporal dementia (1 patient)

•

en:focal dystonia (rare)

•

en:focal, segmental or multifocal dystonia

•

en:finger twitching

•

en:fine tremors

•

en:facial muscle weakness of muscles innervated by cn vii

•

en:expressive aphasia

•

en:enlarged peripheral nerves

•

en:encephaloceles, frontal

•

en:emg shows neurogenic changes and denervation

•

en:emg shows denervation and fibrillation potentials

•

en:emg shows chronic axonal neuropathy

•

en:eeg abnormalities in 20-50% impaired language development

•

en:early-onset myoclonic seizures

•

en:dystonic posturing (rare)

•

en:dystonia, severe (in all limbs)

•

en:dystonia, episodic, primary affects hands and feet

•

en:dysmyelination of the brain, myelin is not formed properly

•

en:dysfunction of the autonomic nervous system

•

en:distal sensory impairment of all modalities

•

en:distal sensory impairment (in some patients)

•

en:distal sensory impairment, predominantly lower limbs

•

en:distal nerve biopsy shows axonal neuropathy and demyelinating component

•

en:disordered sleep pattern (in some patients)

•

en:diffuse leukoencephalopathy

•

en:diffuse cerebellar atrophy

•

en:developmental delay (in some patients)

•

en:dementia

•

en:delayed walking (rare)

•

en:delayed psychomotor development after onset of seizures

•

en:delayed psychomotor development (mild to severe)

•

en:delayed psychomotor development, profound

•

en:delayed myelination (reported in 1 patient)

•

en:delayed myelination (1 patient)

•

en:delayed motor milestones due to muscle weakness

•

en:deficit in reading comprehension

•

en:deep white matter hypodensities

•

en:decreased volume of the posterior cranial fossa with normal hindbrain volume

•

en:decreased vibratory sense in the lower limbs (in some patients)

•

en:decreased vibratory and positional sense (some patients)

•

en:decreased rapid automatized naming (ran) speed

•

en:decreased number of myelinated fibers

•

en:decreased nerve fiber density and thickness

•

en:decreased n-acetylaspartate

•

en:decreased joint position sense (less common)

•

en:decreased iq (some patients)

•

en:decreased frequency of mepp

•

en:decreased cerebral volume, especially of the frontal lobes

•

en:crowding of the posterior fossa

•

en:cortical atrophy (frontal area)

•

en:consciousness fluctuating

•

en:complex motor behavior such as sleep walking

•

en:cognitive impairment (in 1 of 3 patients)

•

en:cognitive impairment (1 family)

•

en:chronic fatigable muscles

•

en:chiari i malformation on mri (some)

•

en:characteristic findings on mri

•

en:cerebral hemorrhage

•

en:cerebral cortical atrophy, diffuse

•

en:cerebellar heterotopias

•

en:cerebellar atrophy, mild (in 1 of 3 families)

•

en:cerebellar atrophy, mild

•

en:cerebellar atrophy

•

en:cerebellar ataxia (may be permanent in 50% of patients)

•

en:cerebellar ataxia (1 patient)

•

en:central nervous system involvement in approximately 50% of patients

•

en:cell loss and gliosis in the basal ganglia

•

en:cavitating white matter degeneration

•

en:calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex

•

en:bulbar paresis

•

en:brisk knee reflexes (early-on)

•

en:breathing difficulty due to vocal cord paralysis

•

en:brain atrophy seen on mri

•

en:bradykinesia

•

en:bilateral thalamic lesions on mri

•

en:automatism

•

en:aura

•

en:atrophy of the pituitary (1 patient)

•

en:athetosis (later)

•

en:ataxic gait (in some patients)

•

en:ataxia (early-onset form)

•

en:astrocytosis

•

en:areflexia (30%)

•

en:apraxia (in some patients)

•

en:agenesis of the corpus callosum (rare)

•

en:accumulation of autofluorescent material in neurons

•

en:absent olfactory bulbs

•

en:absence of the cerebellar vermis

•

en:absence of myelin in the posterior column of the spinal cord (1 patient)

•

en:abnormal interictal eeg (in some patients)

•

en:abnormal brainstem auditory evoked potentials, suggesting demyelination

•

en:abnormality of the corpus callosum

•

en:3-4 hz slow sharp waves seen on eeg

•

en:kearns-sayre syndrome

•

en:disorder of muscle, unspecified; upper arm

•

en:headache

•

en:dysphagia

•

en:abnormality of taste sensation

•

en:nephrocalcinosis

•

en:motor nervous system

•

en:autonomic plexus

•

en:variant spinal nerve

•

en:right sixth thoracic nerve

•

en:right fourth thoracic nerve

•

en:right fourth lumbar nerve

•

en:right first sacral nerve

•

en:right fifth thoracic nerve

•

en:left coccygeal nerve

•

en:structure of peripheral part of autonomic nervous system

•

en:structural velopharyngeal impairment

•

en:peripheral sensory structure

•

en:necrosis of lower leg muscle co-occurrent and due to chronic ulcer of lower leg

•

en:myositis ossificans of shoulder due to burn

•

en:muscle abscess of lower leg

•

en:muscle abscess of forearm

•

en:gray matter structure of central nervous system

•

en:fibromatosis colli

•

en:entire central nervous system

•

en:trigger point

•

en:white matter changes may occur (in adulthood)

•

en:west syndrome

•

en:weakness is exacerbated by exertion

•

en:visuospatial agnosia (in a subset of patients)

•

en:visual inattention

•

en:very poor expressive speech

•

en:ventricular dilatation (rare)

•

en:ventricular anomalies

•

en:upper limb weakness and atrophy predominates

•

en:upper limbs more often affected than lower limbs

•

en:ubiquitin-positive inclusions

•

en:tremor (rare)

•

en:tonic head extension

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6822765 • caches: c1=10 c2=1006 c3=1

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