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autosomaal recessieve cerebellaire ataxie beginnend op volwassen leeftijd (aandoening)
autosomaal recessieve cerebellaire ataxie beginnend op volwassen leeftijd
autosomaal recessieve spinocerebellaire ataxie type 10
ARCA10
Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10 - autosomal recessive spinocerebellar ataxia type 10
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22.
Id785302009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Occurrencevolwassenheid
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified