Autosomal dominant hereditary disorder
Spinocerebellar ataxia
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Spinocerebellar ataxia type 13 (disorder)
Spinocerebellar ataxia type 13
A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.
spinocerebellaire ataxie type 13
SCA13
Id719209002
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified