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).

Also Known As:

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

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Lafora Disease: 235
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Generalized Epilepsy: 896
        Myoclonic Epilepsies: 1199
        Progressive Myoclonic Epilepsies: 434
        Lafora Disease: 235
      - Epileptic Syndromes: 883
        Myoclonic Epilepsies: 1199
        Progressive Myoclonic Epilepsies: 434
        Lafora Disease: 235
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Lafora Disease: 235

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