 Dystonia Musculorum Deformans
"Dystonia Musculorum Deformans" 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 condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
| Descriptor ID |
D004422
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| MeSH Number(s) |
C10.228.140.079.357 C10.228.662.300.200 C10.574.500.393 C16.320.400.330
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| Concept/Terms |
Dystonia Musculorum Deformans- Dystonia Musculorum Deformans
- Dystonia Deformans Musculorum
- Dystonia Deformans Progressiva
- Torsion Dystonia
- Dystonias, Torsion
- Oppenheim-Ziehen Disease
- Oppenheim Ziehen Disease
- Progressive Torsion Spasm
- Spasm, Progressive Torsion
- Torsion Spasm, Progressive
- Torsion Disease of Childhood
- Childhood Torsion Disease
- Torsion Disease, Childhood
- Idiopathic Torsion Dystonia
- Dystonia, Idiopathic Torsion
- Dystonias, Idiopathic Torsion
- Idiopathic Torsion Dystonias
- Torsion Dystonia, Idiopathic
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Below are MeSH descriptors whose meaning is more general than "Dystonia Musculorum Deformans".
Below are MeSH descriptors whose meaning is more specific than "Dystonia Musculorum Deformans".
This graph shows the total number of publications written about "Dystonia Musculorum Deformans" by people in this website by year, and whether "Dystonia Musculorum Deformans" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 0 | 1 | 1 | | 2008 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dystonia Musculorum Deformans" by people in Profiles.
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Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE. DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. Neurology. 2021 04 06; 96(14):e1887-e1897.
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Pratt D, Mente K, Rahimpour S, Edwards NA, Tinaz S, Berman BD, Hallett M, Ray-Chaudhury A. Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia. Acta Neuropathol Commun. 2016 08 17; 4(1):85.
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Armata IA, Ananthanarayanan M, Balasubramaniyan N, Shashidharan P. Regulation of DYT1 gene expression by the Ets family of transcription factors. J Neurochem. 2008 Aug; 106(3):1052-65.
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Stille CJ. Index of Suspicion. Case 1. Dystonic reaction to metoclopramide. Pediatr Rev. 1997 Feb; 18(2):63, 64.
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Kwiatkowski DJ, Ozelius L, Kramer PL, Perman S, Schuback DE, Gusella JF, Fahn S, Breakefield XO. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71.
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Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet. 1991 Jan; 48(1):121-8.
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