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What's in a name? The clinical features of facioscapulohumeral muscular dystrophy
  1. Karlien Mul,
  2. Saskia Lassche,
  3. Nicol C Voermans,
  4. George W Padberg,
  5. Corinne GC Horlings,
  6. Baziel GM van Engelen
  1. Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands
  1. Correspondence to Karlien Mul, Department of Neurology, Radboud University Medical Centre, P.O. Box 9101, Nijmegen 6500 HB, The Netherlands; karlien.mul{at}radboudumc.nl

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle disorder. Although its name suggests otherwise, it comprises weakness of the facial, shoulder and upper arm muscles, and also of the trunk and leg muscles. Its severity and disease course vary greatly and mild or early FSHD can be difficult to recognise. Knowledge of its subtle signs and symptoms can lead directly to the correct diagnosis without diagnostic delay and without needing multiple diagnostic procedures. We give an overview of the signs and symptoms of FSHD in severe as well as in mild cases, to facilitate correct and instant recognition of this relatively common muscle disorder.

  • facioscapulohumeral muscular dystrophy
  • diagnosis
  • signs and symptoms

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    Phillip E M Smith Geraint N Fuller