Spinal Muscular Atrophies of Childhood
"Spinal Muscular Atrophies of Childhood" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D014897
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MeSH Number(s) |
C10.228.854.468.800 C10.574.500.812 C10.574.562.500.750 C10.668.467.500.750 C16.320.400.765
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Concept/Terms |
Muscular Atrophy, Spinal, Type II- 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- 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- 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
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Below are MeSH descriptors whose meaning is more general than "Spinal Muscular Atrophies of Childhood".
Below are MeSH descriptors whose meaning is more specific than "Spinal Muscular Atrophies of Childhood".
This graph shows the total number of publications written about "Spinal Muscular Atrophies of Childhood" by people in this website by year, and whether "Spinal Muscular Atrophies of Childhood" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2007 | 3 | 0 | 3 |
2008 | 0 | 1 | 1 |
2011 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Spinal Muscular Atrophies of Childhood" by people in Profiles.
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Nossov SB, Curatolo E, Campbell RM, Mayer OH, Garg S, Cahill APJ. VEPTR: Are We Reducing Respiratory Assistance Requirements? J Pediatr Orthop. 2019 Jan; 39(1):28-32.
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Henrichsen T, Lindenskov PH, Shaffer TH, Loekke RJ, Fugelseth D, Lindemann R. Perfluorodecalin lavage of a longstanding lung atelectasis in a child with spinal muscle atrophy. Pediatr Pulmonol. 2012 Apr; 47(4):415-9.
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Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem. 2008 Feb 14; 51(3):449-69.
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Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV. Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol. 2007 Aug; 22(8):967-73.
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Kostova FV, Williams VC, Heemskerk J, Iannaccone S, Didonato C, Swoboda K, Maria BL. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. J Child Neurol. 2007 Aug; 22(8):926-45.
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Maria BL. The Neurobiology of Disease in Children Conference. J Child Neurol. 2007 Aug; 22(8):923-5.