Catalog

Spinocerebellar ataxia type 31

No MMS code

Link to WHO Definition

Spinocerebellar ataxia type 31 – http://id.who.int/icd/entity/250956064

An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.