Concept information
Nervous System Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Muscular Atrophy, Spinal
Término preferido
Spinal Muscular Atrophies of Childhood
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Tipo
-
mesh:Descriptor
Definición
- A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Concepto genérico
En otras lenguas
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francés
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Amyotrophies spinales de l'enfant
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ASI (Amyotrophie Spinale Infantile)
URI
http://data.loterre.fr/ark:/67375/JVR-R7R4RN04-Z
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