Catalog

Spinocerebellar ataxia type 5

No MMS code

Link to WHO Definition

Spinocerebellar ataxia type 5 – http://id.who.int/icd/entity/78905851

Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterised by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression (disease duration of more than 30 years). It is due to a mutation in the SPTBN2 gene.