has material basis in germline mutation in POLG congenital nervous system disorder inborn mitochondrial myopathy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Orphanet:70595 progressive myoclonic epilepsy caused by mutation in PRICKLE2 epilepsy, progressive myoclonic, 5 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) GARD:0009998 progressive myoclonus epilepsy type 5 Orphanet:402082 PME type 5 PRICKLE2 progressive myoclonic epilepsy 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. UMLS:C1843851 MEDGEN:375302 OMIM:613832 OMIM:607459 EPM5 epilepsy, progressive myoclonic, type 5 DOID:0111276 SANDO MONDO:0011835 ataxia neuropathy spectrum progressive myoclonus epilepsy hereditary peripheral neuropathy metabolic epilepsy