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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lafora disease


Other Names for this Disease
  • Lafora body disorder
  • Epilepsy progressive myoclonic 2
  • EPM2
  • Myoclonic epilepsy of Lafora
  • MELF
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 late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 9/29/2015

References

  1. Lafora progressive myoclonus epilepsy. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy.
  2. Anna C Jansen, MD, PhD and Eva Andermann, MD, PhD, FCCMG. Progressive Myoclonus Epilepsy, Lafora Type. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK1389/#lafora.Clinical_Description.
  3. Monaghan TS, Delanty N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. July 2010; 24(7):549-561.
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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) 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

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