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DeCS
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Descriptor English:
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Lafora Disease
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Descriptor Spanish:
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enfermedad de Lafora
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Descriptor Portuguese:
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Doença de Lafora
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Synonyms English:
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Epilepsy Progressive Myoclonic 2
Epilepsy, Progressive Myoclonic 2A
Epilepsy, Progressive Myoclonic, Lafora
Lafora Body Disease
Lafora Body Disease, Late Onset
Lafora Body Disorder
Lafora Myoclonic Epilepsy
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 Myoclonic Epilepsy, Lafora Type
Progressive Myoclonus Epilepsy, Lafora Type
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Tree Number:
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C10.228.140.490.375.130.650.500
C10.228.140.490.493.063.650.500
C10.574.500.529
C16.320.400.480
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Definition English:
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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). |
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History Note English:
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2000; use Epilepsy, Myoclonic 1977-1999
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Allowable Qualifiers English:
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Record Number:
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34275
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Unique Identifier:
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D020192
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Occurrence in VHL:
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Similar:
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DeCS
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