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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Lafora Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Lafora Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Epilepsy > Epilepsy, Generalized > Epilepsies, Myoclonic > Myoclonic Epilepsies, Progressive > Lafora Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Epilepsy > Epileptic Syndromes > Epilepsies, Myoclonic > Myoclonic Epilepsies, Progressive > Lafora Disease

Preferred term

Lafora Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Scope note

  • 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).

History note

  • 2000; use Epilepsy, Myoclonic 1977-1999

In other languages

  • Laforan sairaus

    Finnish

  • Lafora
  • Laforan etenevä myoklonusepilepsia
  • Laforan progressiivinen myoklonusepilepsia
  • Laforan tauti
  • Laforas sjukdom

    Swedish

  • Lafora myoklonisk epilepsi
  • Lafora progressiv myoklonisk epilepsi

URI

http://www.yso.fi/onto/mesh/D020192

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