Autosomal dominant hereditary disorder
Spinocerebellar ataxia
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Spinocerebellar ataxia type 10 (disorder)
Spinocerebellar ataxia type 10
Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.
spinocerebellaire ataxie type 10
SCA10
Id715754007
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified