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Laforova choroba

  1. Subject h.Laforova choroba
    Subject h.Lafora Disease
    Entry termsepilepsia progresívna myoklonická Laforova
    epilepsia progresívna myoklonická, Laforov typ
    English X referencesEpilepsy, Progressive Myoclonic, Lafora
    Progressive Myoclonic Epilepsy, Lafora Type
    Scope note in EnglishA 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).
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