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Lafora Disease

A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).

Year introduced: 2000

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Tree Number(s): C10.228.140.490.375.130.650.500, C10.228.140.490.493.063.650.500, C10.574.500.529, C16.320.400.480

MeSH Unique ID: D020192

Entry Terms:

  • Epilepsy, Progressive Myoclonic, Lafora
  • Progressive Myoclonic Epilepsy, Lafora Type
  • Lafora Body Disease
  • Lafora Progressive Myoclonic Epilepsy
  • Lafora Type Progressive Myoclonic Epilepsy
  • Progressive Myoclonic Epilepsy, Lafora
  • Lafora Body Disorder
  • Myoclonic Epilepsy of Lafora
  • Lafora Myoclonic Epilepsy
  • Epilepsy Progressive Myoclonic 2
  • Lafora Progressive Myoclonus Epilepsy
  • Progressive Myoclonic Epilepsy Type 2
  • Progressive Myoclonus Epilepsy, Lafora Type
  • Epilepsy, Progressive Myoclonic 2A
  • Lafora Body Disease, Late Onset
  • Lafora-Body Disease, Late Onset
  • Late Onset Lafora Body Disease

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