Tags: Disease.
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder which like other types of SCA is characterized by dysarthria nystagmus and ataxia of gait stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy an inability to run and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3 a gene encoding a voltage-gated potassium channel KV3.3.