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Concept information

Preferred term

Spinal Muscular Atrophies of Childhood  

Type

  • Topical Descriptor

Entry terms

  • HMN (Hereditary Motor Neuropathy) Proximal Type I
  • Juvenile Spinal Muscular Atrophy
  • Muscular Atrophy, Spinal, Infantile Chronic Form
  • Muscular Atrophy, Spinal, Type II

Note

  • infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available

Scope note

  • 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)

History note

  • 2000(1988)

In other languages

  • Finnish

  • lasten spinaaliset lihasrappeumat
  • lasten spinaaliset lihassurkastumat
  • Swedish

  • Kugleberg-Welanders sjukdom
  • Spinal muskelatrofi hos ungdom
  • Spinal muskelatrofi typ I
  • Spinal muskelatrofi typ II
  • Spinal muskelatrofi typ III
  • Werdnig-Hoffmanns sjukdom

URI

http://www.yso.fi/onto/mesh/D014897

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