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Other Names for this Disease
- Epilepsy progressive myoclonic 2
- Lafora body disorder
- Myoclonic epilepsy of Lafora
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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.
- A Brief Overview of Lafora Disease. Chelsea's Hope: Lafora Children Research Fund. http://www.chelseashope.org/whatislafora.html. Accessed July 6, 2009.
- Genton P. Lafora disease. Orphanet. 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 July 6, 2009.
On this page
- Genetics Home Reference (GHR) contains information on Lafora disease. Click on the link to go to GHR and review the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) offers information on this topic. You can contact NINDS by calling toll-free 800-352-9424 or by visiting their Web site.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Lafora disease. Click on the link to go to OMIM and review these resources.