Spinocerebellar ataxia type-13

The spinocerebellar ataxia type 13 ( SCA13 ) is a rare genetic disease that was previously detected in two families ( in France and the Philippines). Clinically, thereby cerebellar ataxia with dysarthria, dysphagia, nystagmus, epilepsy and often mild intellectual disability (IQ, 62-76 ). Life expectancy does not appear verkrürzt (some patients are 70 years of age ). This neurodegenerative disorder is inherited as an autosomal dominant trait.

Diagnosis

The diagnosis is based on clinical findings ( neurological and neuropsychological examination ), and the molecular genetic analysis of the potassium channel KCNC3 ( Kv3.3 ). This is the only previously known genetic mutation ( 19q13.3 - q13.4 ).

Therapy

The treatment is symptomatic. Because of ataxia are walking aids, necessary when seizures antiepileptic occurrence. Patients with dysphagia need additional help with food intake. A Prenatal diagnosis is possible.