Progressive Myoclonus Epilepsies

Progressive Myoclonus Epilepsies (PMEs) are a group of rare neurological disorders characterized by myoclonus, which are rapid, involuntary muscle jerks, and epilepsy, which leads to seizures. These conditions are progressive, meaning they worsen over time, affecting muscle control, coordination, and sometimes cognitive function. PMEs often have a genetic basis and can be associated with other symptoms, such as ataxia (balance issues) and changes in behavior or cognition. Diagnosis typically involves clinical evaluation, genetic testing, and brain imaging to tailor treatment and support for those affected.