Engelsk definition
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)
Svenska synonymer
Kugleberg-Welanders sjukdom — Werdnig-Hoffmanns sjukdom — Spinal muskelatrofi typ II — Spinal muskelatrofi typ I — Spinal muskelatrofi typ III — Spinal muskelatrofi hos ungdom
Engelska synonymer
Muscular Atrophy, Spinal, Type II — Spinal Muscular Atrophy Type 2 — Type II Spinal Muscular Atrophy — Spinal Muscular Atrophy Type II — Spinal Muscular Atrophy, Type II — HMN (Hereditary Motor Neuropathy) Proximal Type I — Spinal Muscular Atrophy, Infantile — Muscular Atrophy, Spinal, Infantile — Werdnig-Hoffmann Disease — Werdnig Hoffmann Disease — Muscular Atrophy, Spinal, Type I — Spinal Muscular Atrophy Type I — SMA, Infantile Acute Form — Type I Spinal Muscular Atrophy — Proximal Hereditary Motor Neuropathy Type I — Werdnig Hoffman Disease — Muscular Atrophy, Infantile — Infantile Muscular Atrophy — Spinal Muscular Atrophy 1 — Infantile Spinal Muscular Atrophy — Spinal Muscular Atrophy, Type I — Juvenile Spinal Muscular Atrophy — Spinal Muscular Atrophy Type III — Spinal Muscular Atrophy, Type III — Type III Spinal Muscular Atrophy — Muscular Atrophy, Juvenile — Juvenile Muscular Atrophy — Kugelberg-Welander Disease — Kugelberg Welander Disease — Spinal Muscular Atrophy, Type 3 — Kugelberg-Welander Syndrome — Kugelberg Welander Syndrome — Spinal Muscular Atrophy, Mild Childhood and Adolescent Form — Spinal Muscular Atrophy, Juvenile — Muscular Atrophy, Spinal, Type III — Muscular Atrophy, Spinal, Infantile Chronic Form — Muscular Atrophy, Spinal, Intermediate Type