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A 39-Year-Old Man with Low Back Pain and Scapular Winging 

A 39-Year-Old Man with Low Back Pain and Scapular Winging
Chapter:
A 39-Year-Old Man with Low Back Pain and Scapular Winging
Author(s):

Jeffrey A. Cohen

, Justin J. Mowchun

, Victoria H. Lawson

, and Nathaniel M. Robbins

DOI:
10.1093/med/9780190491901.003.0023
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date: 17 June 2021

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, following Duchenne muscular dystrophy and myotonic dystrophy. The clinical secerity is extremely variable, with symptom onset anywhere from infancy to middle adulthood. The cardinal clinical features of facioscapulohumeral muscular dystrophy include facial weakness and scapular winging. Other important examination findings including scalloping of the trapezius, “Popeye” forearms, horizontal axillary folds, and a positive Beevor’s sign. It can rarely present as a pattern of weakness mimicking limb-girdle muscular dystrophy with approximately 20% of patients eventually requiring a wheelchair for ambulation. Creatine kinase is normal or mildly elevated. Genetic testing for the D4Z4 repeat contraction on chromosome 4q35 detects 95% of cases but may not reflect severity of the disease.

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