Progressive Myoclonic Epilepsy 2A
Progressive Myoclonic Epilepsy 2A (PME 2A) is a rare genetic disorder characterized by recurrent seizures, specifically myoclonic jerks, which are sudden, brief muscle spasms. It typically begins in childhood or adolescence and can lead to progressive neurological decline, affecting motor skills and cognitive function.
The condition is often associated with mutations in the EPM2A gene, which plays a role in cellular function. Diagnosis usually involves clinical evaluation, genetic testing, and EEG monitoring to assess seizure activity. Treatment focuses on managing symptoms, as there is currently no cure for PME 2A.