What is facioscapulohumeral dystrophy (FSHD)?

Updated: Mar 19, 2019
  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD  more...
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Answer

Facioscapulohumeral dystrophy (FSHD) is one of the most common types of muscular dystrophy.3133 It has distinct regional involvement and progression. FSHD is an autosomal dominant disorder in as many as 90% of affected patients. Landouzy and Dejerine first described FSHD in 1884. Tyler and Stephens described an extensive family from Utah in which 6 generations were affected. Walton and Nattrass established FSHD as a distinct muscular dystrophy with specific diagnostic criteria.


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