RT Journal Article
SR Electronic
T1 What's in a name? The clinical features of facioscapulohumeral muscular dystrophy
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 201
OP 207
DO 10.1136/practneurol-2015-001353
VO 16
IS 3
A1 Karlien Mul
A1 Saskia Lassche
A1 Nicol C Voermans
A1 George W Padberg
A1 Corinne GC Horlings
A1 Baziel GM van Engelen
YR 2016
UL http://pn.bmj.com/content/16/3/201.abstract
AB 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.