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Lafora Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Lafora Disease 27 coordinate concepts ∟ MERRF Syndrome \| ∟ Unverricht-Lundborg Syndrome \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Epilepsy ∟ Epilepsies, Myoclonic ∟ Myoclonic Epilepsies, Progressive ∟ Lafora Disease 27 coordinate concepts ∟ MERRF Syndrome \| ∟ Unverricht-Lundborg Syndrome \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Lafora Disease 27 coordinate concepts ∟ MERRF Syndrome \| ∟ Unverricht-Lundborg Syndrome \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Neuronal Ceroid-Lipofuscinoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Lafora Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Epilepsy ∟ Epilepsies, Myoclonic ∟ Myoclonic Epilepsies, Progressive ∟ Lafora Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Lafora Disease Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Myoclonic Epilepsies, Progressive > Epilepsies, Myoclonic > Epilepsy > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) X
History note:	Epilepsies, Myoclonic (1977-1999) \| Epilepsy (1966-1976)X
historyNote*:	2000; use Epilepsy, Myoclonic 1977-1999 X
publicMeSHNote*:	2000; see Epilepsy, Myoclonic 1977-1999 X
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) X
activeMeSHYear*:	2002 \| 2003 \| 2004 \| 2005 \| 2006 \| 2007X
dateCreated*:	1999-11-03X
dateEstablished*:	2000-01-01X
dateRevised*:	2001-07-25X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	KEVX
Type:	Concept X
Coordinate terms:	MERRF Syndrome \| Unverricht-Lundborg Syndrome \| Alexander Disease \| Amyloid Neuropathies, Familial \| Canavan Disease \| Cockayne Syndrome \| Dystonia Musculorum Deformans \| Gerstmann-Straussler-Scheinker Disease \| Hallervorden-Spatz Syndrome \| Hepatolenticular Degeneration \| Hereditary Central Nervous System Demyelinating Diseases \| Hereditary Motor and Sensory Neuropathies \| Hereditary Sensory and Autonomic Neuropathies \| Huntington Disease \| Lesch-Nyhan Syndrome \| Menkes Kinky Hair Syndrome \| Mental Retardation, X-Linked \| Myotonia Congenita \| Myotonic Dystrophy \| Neurofibromatoses \| Neuronal Ceroid-Lipofuscinoses \| Optic Atrophies, Hereditary \| Rett Syndrome \| Spinal Muscular Atrophies of Childhood \| Spinocerebellar Degenerations \| Tourette Syndrome \| Tuberous Sclerosis X
URI:	X
Labels and equivalent concepts:	Laforan sairaus (fi) Progressive Myoclonic Epilepsy, Lafora (en, replaced) Late Onset Lafora Body Disease (en, replaced) Progressive Myoclonic Epilepsy, Lafora Type (en, replaced) Lafora-Body Disease, Late Onset (en, replaced) Lafora Type Progressive Myoclonic Epilepsy (en, replaced) Epilepsy, Progressive Myoclonic, Lafora (en, replaced) Lafora Body Disease (en, replaced) Lafora Progressive Myoclonic Epilepsy (en, replaced) Enfermedad de Lafora (es) Lafora-Krankheit (de) Laforova nemoc (cs) Epilepsia Mioclónica Progresiva de Lafora (es, replaced) Epilepsia Progresiva Mioclónica Tipo Lafora (es, replaced) Progressive myoklonische Epilepsie, Laforatyp (de, replaced) Epilepsie, progressive, myoklonische, Laforatyp (de, replaced) X
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