Facioscapulohumeral Muscular Dystrophy (FSHD)

What is Facioscapulohumeral Muscular Dystrophy (FSHD)?

Facioscapulohumeral muscular dystrophy, also known as FSH dystrophy or FSHD, is an inherited neuromuscular disease that causes muscles weakness and deterioration in the face, shoulder blades, and upper arms. It is the third most common type of muscular dystrophy and occurs in approximately 4 per 100,000 individuals.

What Are the Symptoms of Facioscapulohumeral Muscular Dystrophy?

For most individuals with this disease, symptoms will appear before the age of 20. They include weakness and atrophy of the muscles around the eyes and mouth, shoulders, abdomen, upper arms, and lower legs. These symptoms are often asymmetrical.

What Causes Facioscapulohumeral Muscular Dystrophy?

Facioscapulohumeral Muscular Dystrophy is genetic, and those with the disease usually have a mutation that affects chromosome 4. This mutation causes an overactive DUX4 gene, which damages or destroys muscle cells.

UR Medicine's Treatments for Facioscapulohumeral Muscular Dystrophy (FSHD)

The University of Rochester Medical Center provides the most up to date multidisciplinary care to our patients. We treat individuals with FSHD of all ages and at all stages of disease.

We focus on all aspects of disease including diagnosis with genetic confirmation, genetic and family counseling, treatment, prevention and management of secondary symptoms and complications, access to clinical research studies and treatment trials, and coordination of care with schools and other providers.

Our specialized team includes neuromuscular neurologists, pulmonologists (pediatric and adult), physical therapists, nurses, nurse practitioners, genetic counselor, social workers, orthopedic surgeons (pediatric and adult), nutritionists, clinic coordinators, and specialty pharmacy.

What Sets Us Apart?

The University of Rochester FSHD Research Center is the first concerted international effort to accelerate aggressive and innovative clinical and genetic research to find treatments. We are a “Center Without Walls,” advancing the synergistic efforts of two of the world’s leading institutions in neuromuscular disease research, the University of Rochester Medical Center’s Neuromuscular Disease Center and Leiden University Medical Center’s Department of Human Genetics. The Fred Hutchinson Cancer Research Center brings in vital expertise in skeletal muscle development.

Our team of experts specialize in what’s needed to care for all forms of childhood and adult neuromuscular disease. We coordinate care tailored to the needs of patients and families.

As part of an academic medical center, our clinicians are also active in research, serving as Principal Investigators for national and international multi-center trials. UR Medicine has been home to:

NIH-funded Wellstone Muscular Dystrophy Cooperative Research Centers
Muscular Dystrophy Association (MDA)
PPMD Duchenne Muscular Dystrophy Center
SMA Cures Center of Excellence
An NIH-funded Inherited Neuropathies Consortium Rare Diseases Clinical Research Network site

Support the FSHD Center

Your donation, no matter the size, brings us closer to life-changing discoveries and treatments. For someone living with a neuromuscular disorder, your support means more than just hope – it means a chance at a fuller, more independent life.

Make a Gift