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.
MONDO:0020074
progressive myoclonus epilepsy
excluded_subClassOf
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0009637
inborn mitochondrial myopathy
is_a
MONDO:0016798
ataxia neuropathy spectrum
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
EPM5
exact
PME type 5
exact
PRICKLE2 progressive myoclonic epilepsy
exact
SANDO
exact
epilepsy, progressive myoclonic, 5
related
epilepsy, progressive myoclonic, type 5
exact
mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
exact
progressive myoclonic epilepsy caused by mutation in PRICKLE2
exact
progressive myoclonus epilepsy type 5
exact
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
exact
SPCC24B10.22