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Disease Profile

Unverricht-Lundborg disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Childhood

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ICD-10

G40.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Myoclonus progressive epilepsy of Unverricht and Lundborg; EPM1; Epilepsy, progressive myoclonus 1;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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]

Symptoms

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.

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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Diagnosis

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.

    Organizations

    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

        Organizations Providing General Support

          Learn more

          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.

              References

              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; https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease. Accessed 11/3/2011.