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Facioscapulohumeral muscular dystrophy

Upadhyaya, Meena and Cooper, David Neil ORCID: 2004. Facioscapulohumeral muscular dystrophy. Fuchs, J. and Podda, M., eds. Encyclopedia of Medical Genomics and Proteomics, New York: Marcel Dekker, pp. 419-425. (10.3109/9780203997352.086)

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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant, inherited disorder characterized by progressive muscle weakness, including atrophy of the facial muscles, upper arm, and shoulder girdle. Disease progression may eventually involve weakness and atrophy of the pelvic girdle and the foot extensor. FSHD is the third most common form of inherited neuromuscular disorder, after Duchenne and myotonic muscular dystrophies.1 It is unusual for the disease to become clinically apparent before the age of 10 years. However, when it does occur in fewer than 5% of patients, it is associated with significant facial weakness. The common course of the disease is for symptoms to develop during the second decade of life. Both retinal vasculopathy and high‐tone deafness may be seen as part of the clinical spectrum of FSHD.

Item Type: Book Section
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: genomics, proteomics, gene therapy, viruses, DNA, FISH, microarrays, nucleotides, bacteria
Publisher: Marcel Dekker
ISBN: 9780824755645
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Last Modified: 20 Oct 2022 09:55

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