encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO — Definition

İlerleyici ensefalopati, amiyotrofi ve optik atrofi ile birlikte; PEAMO; pEAMO is a rare genetic disease characterized by progressive neurological degradation, muscle melting (amiyotrophy) and vision nerve degeneration (optic atrophy). The disease usually begins in childhood and watching the engine function loss, muscle weakness, decreased visual sharpness and cognitive regression. Otozomal indicates resessive inheritance and is associated with mitochondrial dysfunction. Diagnostic clinical findings are subject to electromiography, imaging and genetic tests.

The Turkish equivalent of "encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO" is İlerleyici ensefalopati, amiyotrofi ve optik atrofi ile birlikte; PEAMO.

This term belongs to the Diseases category.