"Dystonia" 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.
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Descriptor ID |
D004421
|
MeSH Number(s) |
C10.597.350.300 C23.888.592.350.300
|
Concept/Terms |
Dystonia- Dystonia
- Muscle Dystonia
- Dystonia, Muscle
|
Below are MeSH descriptors whose meaning is more general than "Dystonia".
Below are MeSH descriptors whose meaning is more specific than "Dystonia".
This graph shows the total number of publications written about "Dystonia" by people in this website by year, and whether "Dystonia" was a major or minor topic of these publications.
To see the data from this visualization as text,
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Year | Major Topic | Minor Topic | Total |
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2010 | 0 | 1 | 1 |
2012 | 0 | 1 | 1 |
2013 | 0 | 1 | 1 |
2016 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2020 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dystonia" by people in Profiles.
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DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. Brain. 2022 11 21; 145(11):3968-3984.
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet. 2021 09; 85(5):186-195.
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Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia. J Mol Neurosci. 2020 Jul; 70(7):999-1008.
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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug; 64(8):803-813.
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb; 49(2):223-237.
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A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 2013 Jun; 70(6):783-7.
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X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Hum Mol Genet. 2013 Mar 01; 22(5):941-51.
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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti?res syndrome. Arthritis Rheum. 2010 May; 62(5):1469-77.