Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.

Also known as: EPM5, PME type 5, PRICKLE2 progressive myoclonic epilepsy, SANDO, epilepsy, progressive myoclonic, type 5, mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), progressive myoclonic epilepsy caused by mutation in PRICKLE2, progressive myoclonus epilepsy type 5

24 clinical trials for this condition and its sub-types.