 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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| 2009 | 1 | 0 | 1 | | 2012 | 1 | 1 | 2 | | 2014 | 2 | 0 | 2 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 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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Pigatto AV, Kao TJ, Mueller JL, Baker CD, DeBoer EM, Kupfer O. Electrical impedance tomography detects changes in ventilation after airway clearance in spinal muscular atrophy type I. Respir Physiol Neurobiol. 2021 12; 294:103773.
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Feldman AG, Parsons JA, Dutmer CM, Veerapandiyan A, Hafberg E, Maloney N, Mack CL. Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1. J Pediatr. 2020 10; 225:252-258.e1.
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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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Bielsky AR, Fuhr PG, Parsons JA, Yaster M. A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of nusinersen. Paediatr Anaesth. 2018 12; 28(12):1105-1108.
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Apkon S, Noritz G. The primary care pediatrician: key to improving neuromotor outcomes. Dev Med Child Neurol. 2018 09; 60(9):851.
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Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve. 2014 May; 49(5):636-44.
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Ness K, Apkon SD. Bone health in children with neuromuscular disorders. J Pediatr Rehabil Med. 2014; 7(2):133-42.
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Han KJ, Foster DG, Zhang NY, Kanisha K, Dzieciatkowska M, Sclafani RA, Hansen KC, Peng J, Liu CW. Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron. J Biol Chem. 2012 Dec 21; 287(52):43741-52.
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Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97.
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Elsheikh B, Kissel JT, Christoforidis G, Wicklund M, Kehagias DT, Chiocca EA, Mendell JR. Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm "Hirayama disease". Muscle Nerve. 2009 Aug; 40(2):206-12.
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