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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lafora disease


Other Names for this Disease

  • Epilepsy progressive myoclonic 2
  • EPM2
  • Lafora body disorder
  • MELF
  • Myoclonic epilepsy of Lafora
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected individuals experience rapid cognitive deterioration and progressive increase in intensity of seizures and myoclonus. The condition is often fatal within 4 to 10 years of onset. Most cases are caused by mutations in either the EMP2A or NHLRC1 (also called EMP2B) gene and are inherited in an autosomal recessive manner. Treatment focuses on alleviating symptoms and typically includes antiepileptic and antimyoclonic drugs, and psychological support.[1][2]
Last updated: 6/10/2013

References

  1. A Brief Overview of Lafora Disease. Chelsea's Hope: Lafora Children Research Fund. 2007; http://www.chelseashope.org/whatislafora.html. Accessed 7/6/2009.
  2. Genton P. Lafora disease. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=117&Disease_Disease_Search_diseaseGroup=Lafora-disease&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Lafora-disease&title=Lafora-disease&search=Disease_Search_Simple. Accessed 7/6/2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Lafora disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Lafora disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Lafora disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Epilepsy progressive myoclonic 2
  • EPM2
  • Lafora body disorder
  • MELF
  • Myoclonic epilepsy of Lafora
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.