What is the clinical algorithm for diagnosis of facioscapulohumeral muscular dystrophy (FSHD)?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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In 2015, the AAN and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) released joint evidence-based guidelines for the evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy (FSHD). The guidelines were also endorsed by the FSH Society and the Muscular Dystrophy Association. [75]

A clinical algorithm for diagnosis includes the following steps:

  • When clinical presentation of FSHD is typical and the diagnosis of FSHD1 is genetically confirmed in a first-degree relative, genetic testing is not necessary in an affected individual
  • In patients who have no first-degree relatives with genetic confirmation of the disease, test for D4Z4 contraction
  • If negative for D4Z4 contraction, consider FSHD2,  limb-girdle muscular dystrophy type 2A, or other myopathies
  • If positive for D4Z4 contraction and typical clinical presentation, FSHD1 diagnosis is confirmed
  • If positive for D4z4 contraction and atypical clinical presentation, test for A allele; if positive for A allele, FSHD1 diagnosis is confirmed; if negative, consider other myopathies

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