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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.

Your Question

Can an adult get Lafora disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Lafora disease?

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

Can an adult get Lafora disease?

Lafora disease typically begins between ages 12 and 17 years, after a period of apparently normal development. However, there are reports of later onset forms of the condition. In these cases,the affected person often begins showing signs and symptoms of Lafora disease between ages 21 and 28. Some studies suggest that later onset cases of Lafora disease may be associated with a slower disease progression.[4][5]
Last updated: 9/29/2015

References
  • Lafora progressive myoclonus epilepsy. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy.
  • 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.
  • Monaghan TS, Delanty N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. July 2010; 24(7):549-561.
  • Lhi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Francheschetti S, Zara F, Minassian BA. Neurology. 2007; http://www.ncbi.nlm.nih.gov/pubmed/17389303. Accessed 7/6/2009.
  • Jara-Prado A, Ochoa A, Alonso ME, Lima Villeda GA, Fernández-Valverde F, Ruano-Calderón L, Vargas-Cañas S, Durón RM, Delgado-Escueta AV, Martínez-Juárez IE. Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. Epilepsy Res. 2014 Nov;108(9):1501-10. November 2014; 108(9):1501-1510.
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.