What is Unverricht-Lundborg Disease

Unverricht-Lundborg Disease (ULD) is a rare genetic disorder characterized by progressive myoclonic epilepsy, which is a type of seizure disorder. It typically begins in childhood or adolescence and worsens over time. ULD is caused by mutations in the CSTB gene, which leads to the production of abnormal proteins that accumulate in the brain.

The main symptom of ULD is myoclonus, which refers to sudden, brief muscle jerks or twitches. These myoclonic jerks can affect various parts of the body and may be triggered by movement, stress, or sensory stimuli. Additionally, individuals with ULD may experience tonic-clonic seizures, which involve loss of consciousness and convulsions.

ULD can also lead to cognitive decline, including difficulties with memory, attention, and problem-solving. Emotional and behavioral changes, such as anxiety and depression, may also occur. The severity and progression of symptoms can vary among affected individuals.

While there is currently no cure for ULD, treatment focuses on managing symptoms and improving quality of life. This may involve antiepileptic medications to control seizures and medications to alleviate myoclonus. Supportive therapies, such as physical and occupational therapy, can help manage motor symptoms and enhance daily functioning.