Spinocerebellar ataxia with epilepsy
ORPHA:254881· ICD-10 E88.8
Definition
A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood