EPM2A
EPM2A, or epilepsy, progressive myoclonic 2A, is a rare genetic disorder characterized by seizures, myoclonus (sudden muscle jerks), and progressive neurological decline. It is primarily caused by mutations in the EPM2A gene, which plays a crucial role in cellular function and metabolism. Symptoms typically begin in childhood or adolescence and can lead to significant disability over time.
The condition is often associated with other features, such as cognitive impairment and ataxia (loss of coordination). Diagnosis usually involves genetic testing and clinical evaluation. While there is no cure for EPM2A, management focuses on controlling symptoms and improving the quality of life for affected individuals.