spinocerebellaire ataxie type 1 (aandoening)
spinocerebellaire ataxie type 1
Spinocerebellar ataxia type 1
Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
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 map98755
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified