/sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Rare Disease

MONDO:0011835

Also Known As

EPM5PME type 5PRICKLE2 progressive myoclonic epilepsySANDOepilepsy, progressive myoclonic, type 5mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)progressive myoclonic epilepsy caused by mutation in PRICKLE2progressive myoclonus epilepsy type 5sensory ataxic neuropathy, dysarthria, and ophthalmoparesisepilepsy, progressive myoclonic, 5epilepsy, progressive myoclonic, 5, formerlyepilepsy, progressive myoclonic, with sensory ataxic neuropathysensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessivesensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromespinocerebellar ataxia with epilepsy

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.