Published in:
Open Access
01-12-2014 | Poster presentation
UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
Authors:
Libby Wood, Teresinha Evangelista, Fiona Norwood, Richard Orrell, Marita Pohlschmidt, Mark Busby, Andrew Graham, David Hilton-Jones, Cheryl Longman, Peter Lunt, Mark Roberts, Stuart Watt, Suzanne Watt, Tracey Willis, Hanns Lochmüller
Published in:
Orphanet Journal of Rare Diseases
|
Special Issue 1/2014
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Excerpt
The United Kingdom (UK) Facioscapulohumeral Dystrophy (FSHD) Patient Registry launched in May 2013. Funded by the Muscular Dystrophy Campaign and supported by the TREAT-NMD Alliance. This patient driven registry collects the internationally agreed core dataset, an outcome of an ENMC Workshop held in 2010 [
1], through a novel online portal (
http://www.fshd-registry.org/uk). Genetic details are added by a nominated neuromuscular specialist. In addition questionnaires about pain, quality of life and scapular fixation are included. …
