This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-clonic seizures. Episodes of myoclonus may be brought on by exercise, stress, light, or other stimuli (triggers). Over time, people with ULD develop ataxia, lack of coordination, intention tremor, and difficulty speaking (dysarthria). People with ULD may also develop emotional sensitivity, depression, and a mild impairment of intellectual performance over time.
ULD is caused by mutations in the CSTB gene and inheritance is autosomal recessive. The diagnosis can be confirmed with genetic testing. Treatment aims to control symptoms and increase quality of life. Treatment typically includes medications to lessen the severity of myoclonus and the frequency of seizures, as well as psychosocial support. Myoclonus may be resistant to medications, while seizures can often be controlled. In the past, the life span of people with ULD was significantly shortened, but with advances in treatment and support, life expectancy now appears to be near normal.
For more information, visit GARD.