spinocerebellar ataxia type 13

Rare Disease

MONDO:0011529

Also Known As

SCA13spinocerebellar ataxia type 13autosomal dominant cerebellar ataxia with intellectual disabilityautosomal dominant cerebellar ataxia with mental retardationcerebellar ataxia, autosomal dominant with intellectual disabilitycerebellar ataxia, autosomal dominant with mental retardationspinocerebellar ataxia 13

Definition

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.