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
|
| 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 |
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
|
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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 1 | 2 |
| 2022 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Spinal Muscular Atrophies of Childhood" by people in Profiles.
-
Anterior cervical discectomy and fusion for the treatment of pediatric Hirayama disease. Childs Nerv Syst. 2024 May; 40(5):1427-1434.
-
Novel use of nusinersen as a therapeutic bridge to onasemnogene abeparvovec-xioi in a premature neonate with type 1 spinal muscular atrophy. Muscle Nerve. 2022 08; 66(2):E8-E10.
-
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
-
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Am J Med Genet A. 2020 05; 182(5):1167-1176.
-
Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy. J Pediatr Nurs. 2018 Nov - Dec; 43:111-119.
-
The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems. J Child Neurol. 2017 Oct; 32(11):917-923.
-
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet. 1998 Aug; 35(8):674-6.
-
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet. 1996 Nov; 5(11):1727-32.
-
Features of motor control in patients with proximal childhood spinal muscle atrophy (pilot study). Electromyogr Clin Neurophysiol. 1993 Sep; 33(6):375-83.
-
Analysis of 4628 cases in the genetic counselling clinic of PUMC Hospital. Proc Chin Acad Med Sci Peking Union Med Coll. 1989; 4(3):126-30.