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Book

Facioscapulohumeral Muscular Dystrophy

Christopher Fecek  1 , Prabhu D. Emmady  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Facioscapulohumeral Muscular Dystrophy

Christopher Fecek et al.
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Excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic illness inherited in an autosomal dominant fashion that affects skeletal muscle tissue in affected individuals. Muscle groups involved include those of the face, shoulder girdle, and lower extremity affected asymmetrically. FSHD characteristically starts proximally in the face and spreads distally to affected muscle groups. Beyond musculature, 50% of FSHD patients also present with subclinical high-frequency hearing loss and retinovasculopathy.

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Conflict of interest statement

Disclosure: Christopher Fecek declares no relevant financial relationships with ineligible companies.

Disclosure: Prabhu Emmady declares no relevant financial relationships with ineligible companies.

References

    1. Lin XD, He JJ, Lin F, Chen HZ, Xu LQ, Hu W, Cai NQ, Lin MT, Wang N, Wang ZQ, Xu GR. A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy. Chin Med J (Engl) 2018 Sep 20;131(18):2164-2171. - PMC - PubMed
    1. Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, Zammit PS. β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy. J R Soc Interface. 2015 Jan 06;12(102):20140797. - PMC - PubMed
    1. van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2005 Mar;76(3):375-86. - PMC - PubMed
    1. Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. - PMC - PubMed
    1. Dumbovic G, Forcales SV, Perucho M. Emerging roles of macrosatellite repeats in genome organization and disease development. Epigenetics. 2017 Jul 03;12(7):515-526. - PMC - PubMed

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