Unverricht-Lundborg Disease
Unverricht-Lundborg Disease is a rare genetic disorder characterized by progressive myoclonic epilepsy. It typically begins in childhood or adolescence and is caused by mutations in the CSTB gene, which affects the brain's ability to regulate electrical activity. Symptoms include muscle jerks, seizures, and cognitive decline, leading to significant challenges in daily life.
The disease is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected. While there is currently no cure, treatment focuses on managing symptoms through medications and supportive therapies to improve quality of life.