title: What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.
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.
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Karlien
authors: K
authors: Mul
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Saskia
authors: S
authors: Lassche
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Nicol C
authors: NC
authors: Voermans
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: George W
authors: GW
authors: Padberg
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Corinne Gc
authors: CG
authors: Horlings
authors: Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors: Baziel Gm
authors: BG
authors: van Engelen
mesh_terms: D057210:Delayed Diagnosis; D018450:Disease Progression; D005145:Face; D006801:Humans; D018482:Muscle, Skeletal; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000175:diagnosis*
keywords: diagnosis; facioscapulohumeral muscular dystrophy; signs and symptoms