Facioscapulohumeral Muscular Dystrophy (FSHD)

What is Facioscapulohumeral Muscular Dystrophy (FSHD)?

Facioscapulohumeral muscular dystrophy, also known as FSH dystrophy or FSHD, is a genetic disease that weakens and damages muscles in the face, shoulders, and upper arms. It is the third most common type of muscular dystrophy and affects about 4 out of every 100,000 people.

What Are the Symptoms of Facioscapulohumeral Muscular Dystrophy?

Most people with FSHD start having symptoms before they turn 20. The symptoms include weakness and loss of muscles around the eyes, mouth, shoulders, upper arms, and lower legs. The weakness usually happens on one side of the body more than the other.

What Causes Facioscapulohumeral Muscular Dystrophy?

Facioscapulohumeral Muscular Dystrophy is genetic, meaning it is passed down through families. It happens because of a change in a gene on chromosome 4. This change makes a gene called DUX4 too active, 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 people 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

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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.

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