Progressive Myoclonic Epilepsy

PME is a group of inherited epileptic disorders characterized by myoclonus, tonic-clonic seizures, and cognitive decline. Etiologies include genetic mutations affecting lysosomal, mitochondrial, or cytoskeletal pathways. Pathophysiology involves cortical hyperexcitability and neurodegeneration. Diagnosis relies on clinical features, EEG, neuroimaging, and genetic testing. Management is symptomatic with antiepileptic drugs and supportive care; prognosis is poor, with progressive neurological decline.