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Atrofias Musculares Espinales de la Infancia
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Definición:
A group of recessively 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)
Sinónimos:
Enfermedad de Werdnig-Hoffmann /
Atrofia Muscular Espinal Infantil /
Enfermedad de Kugelberg-Welander /
Atrofia Muscular Espinal Juvenil /
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ENFERMEDADES
Enfermedades Neonatales Congénitas y Hereditarias y AnomalÃas