Unverricht-Lundborg

Unverricht-Lundborg disease is a rare genetic condition that primarily affects the nervous system. It is characterized by progressive myoclonic epilepsy, which causes sudden, involuntary muscle jerks, and can lead to seizures. This condition usually begins in childhood or adolescence and can also impact coordination and cognitive abilities over time. It is caused by mutations in the CSTB gene and is inherited in an autosomal recessive manner, meaning a person must inherit two copies of the mutated gene to be affected. Management focuses on controlling symptoms, as there is currently no cure.