/spinocerebellar ataxia type 6

spinocerebellar ataxia type 6

Rare Disease

MONDO:0008457

Also Known As

CACNA1A autosomal dominant cerebellar ataxia type IIISCA6autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1Aspinocerebellar ataxia type 6spinocerebellar ataxia 6

Definition

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.