Facioscapulohumeral Dystrophy

What is Facioscapulohumeral muscular dystrophy?

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.



Learn about clinical research


Evaluation, Diagnosis, and Management of Facioscapulohumeral Muscular Dystrophy

Summary of Evidence-based Guideline for Clinicians

Facioscapulohumeral Muscular Dystrophy

Summary of Evidence-based Guideline for Patients and their Families

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

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

Presentations from The FSH Society’s 2016 Patient Connect conference



Dr. Jean Mah

Video Presentation
Facioscapulohumeral: A Pediatric Perspective

Presenter: Jean Mah, MD, MSc, Alberta Children’s Hospital
Description: Dr. Mah discusses her work as a physician working with young people affected by neuromuscular disorders.
Length: 16:32


Useful Links


Offers resources to raise awareness and understanding of FSHD, including information about patient registries, genetics, and management of the disorder.

National Registry of Myotonic Dystrophy & FSHD Patients and Family Members

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.

NCBI’s Facioscapulohumeral Muscular Dystrophy Gene Review

Contains up-to-date, detailed information on FSHD characteristics, diagnosis and testing, management and genetic counselling.

Facioscapulohumeral Muscular Dystrophy Society (USA)

Provides detailed information for patients about genetics, research, and management of FSHD, including, A guide for schools; Physical Therapy.

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