Unverricht-Lundborg disease
Unverricht-Lundborg disease is a rare genetic disorder characterized by progressive myoclonic epilepsy. It typically begins in childhood or adolescence and leads to muscle jerks, seizures, and cognitive decline. The condition is caused by mutations in the CSTB gene, which plays a role in regulating proteins that protect nerve cells.
Patients with Unverricht-Lundborg disease may also experience ataxia, which affects coordination and balance. While there is no cure, treatment focuses on managing symptoms, often using anticonvulsant medications. Ongoing research aims to better understand the disease and develop potential therapies for those affected.