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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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Treatment


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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.[1]

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.[1]

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.[1]
Last updated: 6/10/2013

References
  1. Monaghan TS, Delanty N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. July 2010; 24(7):549-561.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Lafora disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.