Facioscapulohumeral Dystrophy (FSHD) Clinic

FSHD is one of the most common forms of muscular dystrophy. The prevalence of FSHD is estimated at about 4 per 100,000 people, with symptoms often appearing in adolescence or early adulthood, though they can manifest at any age.

FSHD is a genetic condition that primarily affects the muscles of the face (facio-), shoulders (scapulo-), and upper arms (humeral), leading to progressive weakness and loss of function. Over time, the disease may spread to the lower body, impacting mobility and daily activities. Unlike some other forms of muscular dystrophy, FSHD does not typically affect lifespan, but can cause significant disability.

The disease is caused by genetic mutations that lead to the abnormal activation of the DUX4 gene, which is toxic to muscle cells. FSHD can be inherited or arise from spontaneous genetic changes. While the severity of symptoms varies widely, even within families, many individuals have trouble raising their arms, smiling, or walking as the disease progresses.

Comprehensive Care

The goal of our clinic is to make a positive impact on the quality of life of people living with FSHD by providing a team of specialized experts needed to best care for our patients, a friendly and supportive atmosphere, and coordinated care that is highly accessible. We focus on all aspects of disease, including a timely diagnosis with genetic confirmation, genetic and family counseling, prevention and management of secondary symptoms and complications, access to clinical trials, and coordination of care with schools and other providers.

Research

Currently, there is no cure for FSHD, but ongoing research is focused on developing therapies to slow or stop disease progression. The University of Rochester is home to the FSHD Research Center, the first international initiative dedicated to accelerating clinical and genetic research for FSHD. The Center has driven groundbreaking discoveries in FSHD, established care and genetic testing standards, and expanded the FSHD Clinical Trial Research Network to 28 global sites, facilitating research participation and advancing potential therapies. With increasing research into gene therapies and disease-modifying treatments, the future holds promise for better management and, ultimately, a cure for FSHD.

University of Rochester Medical Center
601 Elmwood Avenue
Neurology Clinic on 1st floor
Rochester, NY 14642
Directions to Strong Memorial Hospital