/spinocerebellar ataxia type 1

spinocerebellar ataxia type 1

Rare Disease

MONDO:0008119

Also Known As

ATXN1 autosomal dominant cerebellar ataxia type ISCA1Sca1autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1spinocerebellar ataxia type 1Menzel type OPCAOPCA 1OPCA 4OPCA1OPCA4Schut-haymaker type OPCAcerebelloparenchymal disorder 1olivopontocerebellar atrophy 1olivopontocerebellar atrophy 4spinocerebellar ataxia 1spinocerebellar atrophy 1

Definition

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.