Epilepsy, progressive myoclonic 2A is a rare neurological disorder characterized by seizures and progressive muscle stiffness. It typically begins in childhood or adolescence and is associated with a decline in cognitive function over time. The condition is caused by mutations in the CSTB gene, which plays a role in regulating proteins that protect nerve cells. Individuals with this condition experience myoclonic jerks, which are sudden, involuntary muscle contractions. As the disorder progresses, symptoms may include ataxia, which affects coordination and balance, and further cognitive decline. Management often focuses on controlling seizures and providing supportive care.