 Muscular Dystrophy, Facioscapulohumeral
"Muscular Dystrophy, Facioscapulohumeral" 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 autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
| Descriptor ID |
D020391
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| MeSH Number(s) |
C05.651.534.500.400 C10.668.491.175.500.400 C16.320.577.400
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| Concept/Terms |
Muscular Dystrophy, Facioscapulohumeral- Muscular Dystrophy, Facioscapulohumeral
- Dystrophies, Facioscapulohumeral Muscular
- Dystrophy, Facioscapulohumeral Muscular
- Facioscapulohumeral Muscular Dystrophies
- Muscular Dystrophies, Facioscapulohumeral
- Facioscapulohumeral Atrophy
- Atrophies, Facioscapulohumeral
- Atrophy, Facioscapulohumeral
- Facioscapulohumeral Atrophies
- Facioscapulohumeral Muscular Dystrophy
- Facioscapulohumeral Type Progressive Muscular Dystrophy
- FSH Muscular Dystrophy
- Landouzy-Dejerine Dystrophy
- Dystrophies, Landouzy-Dejerine
- Dystrophy, Landouzy-Dejerine
- Landouzy Dejerine Dystrophy
- Landouzy-Dejerine Dystrophies
- Muscular Dystrophy, Landouzy Dejerine
- Progressive Muscular Dystrophy, Facioscapulohumeral Type
- Facio-Scapulo-Humeral Dystrophy
- Facioscapuloperoneal Muscular Dystrophy
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Below are MeSH descriptors whose meaning is more general than "Muscular Dystrophy, Facioscapulohumeral".
Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophy, Facioscapulohumeral".
This graph shows the total number of publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in this website by year, and whether "Muscular Dystrophy, Facioscapulohumeral" 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 |
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| 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2022 | 4 | 0 | 4 |
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Below are the most recent publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in Profiles.
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Wong CJ, Wang L, Holers VM, Frazer-Abel A, van der Maarel SM, Tawil R, Statland JM, Tapscott SJ. Elevated plasma complement components in facioscapulohumeral dystrophy. Hum Mol Genet. 2022 06 04; 31(11):1821-1829.
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Statland JM, Campbell C, Desai U, Karam C, D?az-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2022 07; 66(1):50-62.
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Jagannathan S. The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy. Biochim Biophys Acta Mol Basis Dis. 2022 05 01; 1868(5):166367.
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Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 01 17; 12(1):1.
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Jagannathan S, Ogata Y, Gafken PR, Tapscott SJ, Bradley RK. Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy. Elife. 2019 01 15; 8.
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Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ. NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins. Elife. 2018 03 13; 7.
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Dumbovic G, Forcales SV, Perucho M. Emerging roles of macrosatellite repeats in genome organization and disease development. Epigenetics. 2017 07 03; 12(7):515-526.
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Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong CJ, Morello TD, van der Maarel SM, Tapscott SJ. DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy. PLoS Genet. 2017 03; 13(3):e1006658.
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Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ. Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells. Hum Mol Genet. 2016 10 15; 25(20):4419-4431.
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Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK. A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy. Elife. 2015 Jan 07; 4.
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