disease 3,214 words KG: ent-dise-ac8a490a 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Spinocerebellar Ataxia Type 8

Disease Info
PrevalenceRare (~1 per 100,000)
InheritanceAutosomal dominant
Age of onsetHighly variable (1-70 years, mean ~30 years)
PenetranceIncomplete (~90% by age 60)
Sex ratioEqual male/female
Geographic distributionWorldwide, all ethnicities
GeneATXN8OS (Ataxin-8 opposite strand)
Alternative namesOSCA, SCA8OS
Chromosome13q21.31
Normal repeat15-50 CTG repeats
Pathogenic repeat71-1,300 CTG repeats
Intermediate (reduced penetrance)50-70 repeats
DatabasesOMIMOrphanetClinicalTrialsPubMed

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