Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

ABSTRACT: Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for trial-readiness. The UK FSHD Patient Registry is a patient initiated registry that collects standardised and internationally agreed dataset of self-reported clinical details combined with professionally verified genetic information. It includes four additional questionnaires to capture patient reported outcomes related to pain, quality of life and scapular fixation. Between 2013 and 2015, 518 patients registered 243 males, 241 females with a mean age of 47.8 years. Most of the patients have FSHD typ

SUBMITTER: Evangelista T 

PROVIDER: S-EPMC4929161 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature