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Lafora Disease
Hierarchy: | ∟ ∟ ∟ ∟ Lafora Disease 27 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lafora Disease 27 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lafora Disease 27 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
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historyNote*: | 2000; use Epilepsy, Myoclonic 1977-1999
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publicMeSHNote*: | 2000; see Epilepsy, Myoclonic 1977-1999
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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)
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activeMeSHYear*: | |
dateCreated*: | 1999-11-03X |
dateEstablished*: | 2000-01-01X |
dateRevised*: | 2001-07-25X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | KEVX |
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Labels and equivalent concepts: | Laforan sairaus (fi) XEpilepsia, myoklonus-, Laforan etenevä (fi, replaced) Laforan progressiivinen myoklonusepilepsia (fi, replaced) Laforan tauti (fi, replaced) Lafora progressiv myoklon epilepsi (sv) Progressiv myoklon epilepsi (sv, replaced) Progressive Myoclonic Epilepsy, Lafora Type (en, replaced) Progressive Myoclonic Epilepsy, Lafora (en, replaced) Late Onset Lafora Body Disease (en, replaced) Lafora Body Disease (en, replaced) Lafora Progressive Myoclonic Epilepsy (en, replaced) Lafora Type Progressive Myoclonic Epilepsy (en, replaced) Lafora-Body Disease, Late Onset (en, replaced) Epilepsy, Progressive Myoclonic, Lafora (en, replaced) |
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