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Atlas of Genetic Diagnosis and Counseling pp 993–1004Cite as

Facioscapulohumeral Muscular Dystrophy

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy (Upadhyaya and Cooper 2002). It is characterized by progressive weakness and atrophy of the facial and shoulder girdle muscles. The other muscles are also involved. Its prevalence is estimated to be 1 in 20,000 in Europe (Lunt and Harper 1991).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Facioscapulohumeral Muscular Dystrophy. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_84

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_84

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

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