progressive myoclonus epilepsy type 1
Progressive myoclonus epilepsy type 1 (PME1) is a rare neurological disorder characterized by myoclonus, which are sudden, involuntary muscle jerks. It typically begins in childhood or adolescence and is often associated with seizures and progressive neurological decline. The condition is caused by mutations in the EPM1 gene, leading to a buildup of toxic substances in the brain.
As the disease progresses, individuals may experience cognitive decline, ataxia (loss of coordination), and other neurological symptoms. Treatment focuses on managing seizures and improving quality of life, but there is currently no cure for PME1. Early diagnosis and supportive care are essential for affected individuals.