Interesting signs in facioscapulohumeral muscular dystrophy in a child
DOI:
https://doi.org/10.18203/2349-3291.ijcp20252973Keywords:
Beevors, Dystrophy, Fascio scapular, Humeral, PolyhillAbstract
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy in the world after Duchenne muscular dystrophy and myotonic dystrophy. The age of onset of FSHD varies from infancy to late adulthood. The prevalence ranges from 1:8000 to 20,000, with sixty percent of the disease population in Asian population. We report interesting signs in a genetically proven case of Facioscapulohumeral Muscular Dystrophy in a 9 years old child who had presented with facial muscle weakness, shoulder girdle weakness followed by hip girdle weakness. The clinician should be aware of this rare genetic condition especially when there is asymmetric weakness of facial and shoulder girdle muscles.
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Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008;5(4):601-6. DOI: https://doi.org/10.1016/j.nurt.2008.07.005
Rianne JM, Goselink Nicol C, Voermans Kees Ok kersen. Early onset facioscapulohumeral dystrophy-a systematic review using. Neuromuscular Disorders 2017;27:1077–83. DOI: https://doi.org/10.1016/j.nmd.2017.09.007
Van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2005;76(3):375-86. DOI: https://doi.org/10.1086/428361
Ansseau E, Laoudj-Chenivesse D, Marcowycz A. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One. 2009;4:7482. DOI: https://doi.org/10.1371/journal.pone.0007482
Ansseau E, Eidahl JO, Lancelot C. Homologous transcription factors DUX4 and DUX4c associate with cytoplasmic proteins during muscle differentiation. PLoS One. 2016;11:146893. DOI: https://doi.org/10.1371/journal.pone.0146893
Xiao T, Yang H, Gan S, Wu L. A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type 1. Medicine (Baltimore). 2021;24:100. DOI: https://doi.org/10.1097/MD.0000000000027907
Mah JK, Chen YW. A pediatric review of facioscapulohumeral muscular dystrophy. J Pediatr Neurol. 2018;16(4):222-31. DOI: https://doi.org/10.1055/s-0037-1604197
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