spinocerebellaire ataxie type 30 (aandoening)
spinocerebellaire ataxie type 30
Spinocerebellar ataxia type 30
A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.
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 map211017
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified