As disease-modifying therapies enter clinical trials for FSHD, there is a pressing need for a unified and multidisciplinary international standard of diagnostics and care.
Here we describe the methods and process employed to update and expand the current FSHD standard of care (Tawil et al., 2015) to address the knowledge gaps and present the current evidence base for diagnosis and management of FSHD patients. This international guideline is intended for physicians and healthcare professionals who are involved in the diagnosis and care of people with FSHD.
An evidence-based approach is used, including a systematic literature search, assessment of methodological quality of included articles using evidence tables, and assessment of the strength of evidence for each outcome measure using the GRADE (Grades of Recommendation, Assessment, Development, and Evaluation) approach. For some topics, a consensus-based approach is more suitable, due to limited evidence in the literature. Together with the clinical expertise of twelve working groups, recommendations will be provided on important topics such as clinical and genetic diagnosis, pain and fatigue, functional impairments, managing pulmonary and sleep impairment, cardiac abnormalities, surgery, pregnancy, retinal vascular disease, hearing loss, communication, speech and swallow impairments, and mental health. Finally, the prospects for therapeutic interventions and current research gaps will be addressed.