spinocerebellar ataxia with epilepsy
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.
MONDO:0011835
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
is_a
MSCAE
exact
SCAE
exact
mitochondrial spinocerebellar ataxia with epilepsy
exact