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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
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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 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

Can an adult get Lafora disease?

Although the majority of cases of Lafora disease occur in late-childhood and adolescence, a few cases of adult-onset disease have been described in the medical literature. At least one article (Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls) attributes adult-onset Lafora disease to EPM2B mutations.[3]
 
Additional articles which address late- or adult-onset Lafora disease can be accessed by clicking here.
Last updated: 7/6/2009

References