spinocerebellaire ataxie type 23 (aandoening)
spinocerebellaire ataxie type 23
Spinocerebellar ataxia type 23
A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermLaat optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map101108
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified