Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Definition
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 epilepsy, progressive myoclonic, type 5, EPM5, mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), PME type 5, PRICKLE2 progressive myoclonic epilepsy, progressive myoclonic epilepsy caused by mutation in PRICKLE2, progressive myoclonus epilepsy type 5, SANDO, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis — per MONDO