National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Unverricht-Lundborg disease


Other Names:
Myoclonus progressive epilepsy of Unverricht and Lundborg; EPM1; Epilepsy, progressive myoclonus 1; Myoclonus progressive epilepsy of Unverricht and Lundborg; EPM1; Epilepsy, progressive myoclonus 1; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Myoclonic epilepsy of Unverricht and Lundborg; Epilepsy, progressive myoclonic type 1 See More
Categories:
This disease is grouped under:
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.[1][2]

ULD is caused by mutations in the CSTB gene and inheritance is autosomal recessive.[1][2] 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.[1] 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.[1]
Last updated: 4/19/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
EEG with polyspike wave complexes 0002392
Limb ataxia 0002070
Morning myoclonic jerks 0007000
30%-79% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Intention tremor 0002080
5%-29% of people have these symptoms
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Percent of people who have these symptoms is not available through HPO
Ataxia 0001251
Autosomal recessive inheritance 0000007
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Myoclonus 0001336
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Unverricht-Lundborg disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Epilepsy Foundation provides information on Unverricht-Lundborg disease.
  • Genetics Home Reference (GHR) contains information on Unverricht-Lundborg disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Unverricht-Lundborg disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Lehesjoki A, Kälviäinen R. Unverricht-Lundborg Disease. GeneReviews. November 26, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1142/.
  2. Unverricht-Lundborg disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease. Accessed 11/3/2011.