spinocerebellar ataxia type 29

Rare Disease

MONDO:0007298

Also Known As

SCA29congenital nonprogressive spinocerebellar ataxiaspinocerebellar ataxia 29, congenital nonprogressivespinocerebellar ataxia type 29ACVaplasia of cerebellar vermiscerebellar ataxia early-onset nonprogressivecerebellar ataxia, congenital nonprogressive, autosomal dominantcerebellar vermis aplasiaspinocerebellar ataxia 29

Definition

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.