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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
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Tests & Diagnosis

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How is Lafora disease diagnosed?

A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect "Lafora bodies" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis.[1][2]

GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.
Last updated: 9/28/2015

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


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.