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Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
ORPHA:98768Classification level: Disorder
Prevalence is unknown. Fewer than 20 cases have been reported to date.
SCA13 is primarily a cerebellar syndrome, but dysphagia, urinary urgency, and bradykinesia have been described in affected patients older than 50. Etiology SCA13 has been mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.
Prognosis is relatively good. Many patients live beyond 70 years of age.
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