/spinocerebellar ataxia type 2

spinocerebellar ataxia type 2

Rare Disease

MONDO:0008458

Also Known As

ATXN2 autosomal dominant cerebellar ataxia type IOPCA2SCA2autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2spinocerebellar ataxia type 2ALS13SCA 2Wadia swami syndromeWadia-swami syndromeamyotrophic lateral sclerosis 13amyotrophic lateral sclerosis type 13amyotrophic lateral sclerosis, susceptibility to, 13cerebellar Degeneration with slow eye movementsolivopontocerebellar atrophy 2olivopontocerebellar atrophy Holguin typeolivopontocerebellar atrophy, Holguin typespinocerebellar Degeneration with slow eye movementsspinocerebellar ataxia 2spinocerebellar ataxia Cuban typespinocerebellar ataxia with slow eye movementsspinocerebellar ataxia, Cuban typespinocerebellar atrophy 2

Definition

A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.