Facioscapulohumeral muscular dystrophy (FSH or FSHD) is an inherited muscle disorder that causes progressive breakdown of muscle fibres, resulting in muscle atrophy and weakness. FSHD is the third most common muscular dystrophy worldwide, after Duchenne muscular dystrophy and myotonic dystrophy, affecting approximately 1 in 20,000 individuals.
Symptoms typically begin in teenage years, predominantly affecting the face (facio), shoulder blades (scapular), upper arm (humeral), and legs. There are currently no treatments to slow down, stop, or reverse the symptoms of FSHD.
Summary of Evidence-based Guideline for Clinicians
Summary of Evidence-based Guideline for Patients and their Families
Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Presenter: Jean Mah, MD, MSc, Alberta Children’s Hospital
Offers resources to raise awareness and understanding of FSHD, including information about patient registries, genetics, and management of the disorder.
Advances research in myotonic dystrophy and FHSD by helping patients to participate in clinical studies. These studies help doctors, investigators, and care providers better understand the biology, progression, and other important issues in DM and FSHD.
Contains up-to-date, detailed information on FSHD characteristics, diagnosis and testing, management and genetic counselling.