Catalog

Autosomal dominant cerebellar ataxia type 2

No MMS code

Link to WHO Definition

Autosomal dominant cerebellar ataxia type 2 – http://id.who.int/icd/entity/1803607232

Spinocerebellar ataxia 2 is associated with ataxia, hypotonia, neuropathy, dystonia, and slow eye movements with symptom onset during mid-adulthood. Associated with an exonic CAG repeat expansion in the ATXN2 gene coding for ataxin-2.