Spinocerebellar ataxia type 13
| Classification according to ICD-10 | |
|---|---|
| Q04.9 | Congenital malformation of the brain, unspecified |
| ICD-10 online (WHO version 2019) | |
The spinocerebellar ataxia type 13 (SCA13) is a rare, to the dominant autosomal cerebellar ataxia (ADCA) belonging inherited disease that so far in two families (in France and the Philippines could be detected). Clinically, there are cerebellar ataxia with dysarthria , dysphagia , nystagmus , epilepsy and often also mild intellectual disabilities ( IQ , 62–76). Life expectancy does not appear to be shortened (some patients live to be 70 years old) . This neurodegenerative disease is autosomal - dominant inherited .
diagnosis
The diagnosis is based on the clinical findings (neurological and neuropsychological examination) and the molecular genetic examination of the potassium channel KCNC3 (Kv3.3). This is the only known genetic change (19q13.3-q13.4) .
therapy
Therapy is symptomatic. Because of the ataxia, walking aids are necessary, and antiepileptic drugs are necessary if epileptic seizures occur. Patients with dysphagia need additional help with feeding. A prenatal diagnosis is possible.
Individual evidence
- ↑ a b c S.-M. Pulst: Spinocerebellar Ataxia Type13. In: GeneReviews. 2006, (online)
- ↑ a b SPINOCEREBELLAR ATAXIA 13; SCA13. In: Online Mendelian Inheritance in Man . (English).
