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.

MeSH information

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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
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
Concept/Terms	Spinal Muscular Atrophies of Childhood Spinal Muscular Atrophies of Childhood 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 Muscular Atrophy, Spinal, Infantile Chronic Form Muscular Atrophy, Spinal, Infantile Chronic Form Muscular Atrophy, Spinal, Intermediate Type

Below are MeSH descriptors whose meaning is more general than "Spinal Muscular Atrophies of Childhood".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Spinal Cord Diseases [C10.228.854]
Muscular Atrophy, Spinal [C10.228.854.468]
Spinal Muscular Atrophies of Childhood [C10.228.854.468.800]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Spinal Muscular Atrophies of Childhood [C10.574.500.812]
Motor Neuron Disease [C10.574.562]
Muscular Atrophy, Spinal [C10.574.562.500]
Spinal Muscular Atrophies of Childhood [C10.574.562.500.750]
Neuromuscular Diseases [C10.668]
Motor Neuron Disease [C10.668.467]
Muscular Atrophy, Spinal [C10.668.467.500]
Spinal Muscular Atrophies of Childhood [C10.668.467.500.750]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Spinal Muscular Atrophies of Childhood [C16.320.400.765]

Below are MeSH descriptors whose meaning is related to "Spinal Muscular Atrophies of Childhood".

Below are MeSH descriptors whose meaning is more specific than "Spinal Muscular Atrophies of Childhood".

publications

Timeline | Most Recent

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.

Bar chart showing 9 publications over 7 distinct years, with a maximum of 3 publications in 2007

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2007	3	0	3
2008	0	1	1
2011	1	0	1
2019	1	0	1
2023	1	0	1
2024	1	0	1

Below are the most recent publications written about "Spinal Muscular Atrophies of Childhood" by people in Profiles.

Matesanz SE, Brigatti KW, Young M, Yum SW, Strauss KA. Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy. Ann Clin Transl Neurol. 2024 07; 11(7):1868-1878.

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Ulusaloglu AC, Asma A, Shrader MW, Scavina MT, Mackenzie WG, Erb A, Howard JJ. Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments. J Pediatr Orthop. 2024 Mar 01; 44(3):e226-e231.

View in: PubMed
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.

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Rahman T, Ramanathan R, Stroud S, Sample W, Seliktar R, Harwin W, Alexander M, Scavina M. Towards the control of a powered orthosis for people with muscular dystrophy. Proc Inst Mech Eng H. 2001; 215(3):267-74.

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Paul DA, Goldsmith LS, Miles DK, Moser AB, Spiro AJ, Grover WD. Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. Pediatr Neurol. 1993 Nov-Dec; 9(6):496-7.

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