Unverricht-Lundborg disease (ULD) is a rare, genetic form of progressive myoclonic epilepsy, a disorder characterized by seizures. Specifically, the seizures are myoclonic (involuntary muscle jerks) that become more frequent and/or severe over time. The seizures may be stimulated by physical activity, stress, or light. Seizures may also cause a loss of consciousness, muscle stiffness, and convulsions characteristic of “classic” tonic-clonic seizures.
With age, ULD myoclonic seizures may become severe enough to interfere with daily activities like walking, or cause impaired balance and coordination, involuntary tremors, difficulty speaking, depression, and a mild, progressive intellectual decline. This condition usually begins between ages 6 and 15 years old.
ULD is caused by a mutation in the CSTB gene found on chromosome 21. Genes are units of DNA passed from parent to child that create proteins responsible for normal bodily/cellular processes. When a gene is mutated, the proteins don’t work normally and normal processes are disrupted. The CSTB gene is passed down in an autosomal recessive pattern, meaning both parents must have the mutant gene for offspring to develop symptoms of ULD.
ULD is typically diagnosed with an evaluation of symptoms and family health history, and brain scans like an MRI or EEG may be done to look at images and electrical activity of the brain. Genetic testing is available to confirm the CSTB genetic mutation.
There is currently no cure for ULD – treatment is aimed at managing symptoms. Treatment typically includes medications to decrease frequency and severity of myoclonic seizures. Psychosocial support and genetic counseling may also be available for individuals with ULD and their families. Those with ULD typically have normal life spans.
If you or a family member has been diagnosed with ULD speak with your doctor to learn more information.
Description Last Updated: Aug 22, 2018