Concept information
Preferred term
Spinal Muscular Atrophies of Childhood
Type
-
Topical Descriptor
Broader concept
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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