Spinocerebellar ataxia with epilepsy
Spinocerebellar ataxia with epilepsy
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.
Also known as mitochondrial spinocerebellar ataxia with epilepsy, MSCAE, SCAE — per MONDO