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Genetic and Rare Diseases Information Center (GARD)

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Unverricht-Lundborg disease


Other Names for this Disease

  • Epilepsy, progressive myoclonic type 1
  • Epilepsy, progressive myoclonus 1
  • EPM1
  • Myoclonic epilepsy of Unverricht and Lundborg
  • Myoclonus progressive epilepsy of Unverricht and Lundborg
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Overview

Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 11/3/2011

References

  1. Unverricht-Lundborg disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease. Accessed 11/3/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Unverricht-Lundborg disease. This website is maintained by the National Library of Medicine.

In Depth Information

  • The 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.
Other Names for this Disease
  • Epilepsy, progressive myoclonic type 1
  • Epilepsy, progressive myoclonus 1
  • EPM1
  • Myoclonic epilepsy of Unverricht and Lundborg
  • Myoclonus progressive epilepsy of Unverricht and Lundborg
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.