Why the study?
What are the evidence-based recommendations for the evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy?
Population
Patients with facioscapulohumeral muscular dystrophy (FSHD)
Design
Guideline
Authors
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Reduces unnecessary cardiac screening in asymptomatic FSHD; confirms genetic test accuracy and extends options to include scapular fixation plus aerobic exercise.
What are the evidence-based recommendations for the evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy?
This guideline provides evidence-based recommendations for managing FSHD, highlighting the utility of genetic testing, targeted screening for respiratory, retinal, and hearing issues, and the potential benefits of scapular fixation and aerobic exercise.
Tawil et al. (2015) studied this question.
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