spinocerebellaire ataxie type 29 (aandoening)
spinocerebellaire ataxie type 29
Spinocerebellar ataxia type 29
Congenital nonprogressive spinocerebellar ataxia
Spinocerebellar ataxia type 29 (SCA29) is a rare disease with main features of very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. SCA29 presents at birth, or shortly, after with manifestations of very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15. Inherited autosomal dominantly.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map208513
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified