Spinal Muscular Atrophies of Childhood (definition)

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Spinal Muscular Atrophies of Childhood

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Definition: 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)

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

Other names Werdnig-Hoffmann Disease; Spinal Muscular Atrophy, Juvenile; Spinal Muscular Atrophy, Infantile; Muscular Atrophy, Spinal, Infantile; Kugelberg-Welander Disease; Juvenile Spinal Muscular Atrophy; Infantile Spinal Muscular Atrophy; Werdnig Hoffmann Disease; Werdnig Hoffman Diseases; Kugelberg-Welander Syndromes; Kugelberg Welander Syndrome; Kugelberg Welander Disease; Infantile Muscular Atrophy; Infantile Muscular Atrophies; Hoffman Diseases, Werdnig; Hoffman Disease, Werdnig; Atrophy, Infantile Muscular; Atrophies, Infantile Muscular; Werdnig Hoffman Disease; Type III Spinal Muscular Atrophy

Substance	CAS Registry & name	Categories	Source
Amyotrophy, monomelic	0	*Spinal Muscular Atrophies of Childhood.
Muscular atrophy, spinal, infantile chronic form	0	*Spinal Muscular Atrophies of Childhood.
Hamano Tsukamoto syndrome	0	Demyelinating Diseases Ophthalmoplegia *Spinal Muscular Atrophies of Childhood.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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