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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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What is Lafora disease?

How might Lafora disease be treated?

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

How might Lafora disease be treated?

Lafora disease is extremely progressive, and no treatments thus far have been shown to be effective. While the initial response to epilepsy and myoclonus treatment early in the disease may be good, control of seizures inevitably deteriorates with time. Progression to non-convulsive status epilepticus when changing antiepileptic drugs (such as stopping valproate and adding carbamazepine) has been reported.[3]

Drugs that have been used in an attempt to limit seizure activity include clonazepam, levetiracetam, piracetam, phenobarbitone, topiramate, valproate and zonisamide. There have been case reports in describing efficacy of add-on therapy with levetiracetam and zonisamide. Individual case reports have also described deterioration with certain antiepileptic drugs including phenytoin. Piracetam has been studied as an add-on therapy to valproate with or without clonazepam, and was shown to have a beneficial effect on myoclonus.[3]

Despite Lafora disease being very progressive, a multidisciplinary approach has been recommended and may include specialists in psychiatry, psychology, occupational therapy and physical therapy. Affected individuals also require interventions such as falls prevention due to ataxia.[3]
Last updated: 6/10/2013

  1. A Brief Overview of Lafora Disease. Chelsea's Hope: Lafora Children Research Fund. 2007; Accessed 7/6/2009.
  2. Genton P. Lafora disease. Orphanet. 2007; Accessed 7/6/2009.
  3. Monaghan TS, Delanty N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. July 2010; 24(7):549-561.