 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
|
| MeSH Number(s) |
C05.651.534.500.400 C10.668.491.175.500.400 C16.320.577.400
|
| 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
|
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 |
|---|
| 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2022 | 4 | 0 | 4 | | 2023 | 3 | 0 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in Profiles.
-
Hamm DC, Paatela EM, Bennett SR, Wong CJ, Campbell AE, Wladyka CL, Smith AA, Jagannathan S, Hsieh AC, Tapscott SJ. The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs. PLoS Biol. 2023 09; 21(9):e3002317.
-
Campbell AE, Dyle MC, Albanese R, Matheny T, Sudheendran K, Cort?zar MA, Forman T, Fu R, Gillen AE, Caruthers MH, Floor SN, Calviello L, Jagannathan S. Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression. Cell Rep. 2023 06 27; 42(6):112642.
-
Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S. A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. J Neuromuscul Dis. 2023; 10(6):1031-1040.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|