Are there any treatments for FSHD?

There are no known effective treatments that will reverse the muscle weakness and wasting in FSHD. A targeted treatment that reverses the specific cause of muscle weakness and wasting can only be developed when the exact cause of FSHD is uncovered.

However, there are a number of treatments under development that boost the muscle regenerative capacity and could be used in any muscular dystrophy, regardless of the cause. Most of these treatments are based on blocking the effects of myostatin. Myostatin is a naturally occurring protein that inhibits muscle growth. A number of studies done in animal models of muscular dystrophy demonstrate that blocking myostatin can increase muscle mass and strength. The first such treatment, MYO-029, developed by Wyeth has, unfortunately, not proven to be effective in a number of dystrophies including FSHD. Other more promising treatments are currently under development.

Short of directly reversing muscle weakness, there are a number of interventions that can help individuals with FSHD remain more functional and prevent certain complications:

Management of Limb weakness: Orthotic devices such as ankle- foot and knee-ankle-foot orthoses (braces) are helpful in preventing falls and improving the gait of individuals with foot drop and weakness of knee extension. Bracing to help shoulder mobility is impractical and ineffective but surgical scapular fixation, in selected individuals, will improve arm range of motion.
Role of exercise: Unlike some forms of muscular dystrophy, there is no evidence that exercise is detrimental in FSHD. Exercise can strengthen muscles that are not severely affected and will improve the overall aerobic capacity of an individual. However, there are some important rules of thumb to keep in mind:

Safety: the type of exercise must be tailored to an individual disability to minimize the risk of injury.
Overuse: avoid vigorous exercise of joints surrounded by weak muscles because they are more susceptible to overuse injury.
Less weight/resistance, more repetition: exercise with heavy weights and high resistance are more likely to injure muscle fibers.
Pain: if it hurts, then it is too much.

Treatment of pain: Many patients with FSHD develop chronic pain related to overuse of joints that are made lax by weak surrounding muscles. Common areas of pain include the shoulders and upper back, the lower back in association with the increased curvature of the spine (lordosis), and the knees. Management of pain should include a combination of physical therapy, stretching and the use of medications.
Physical therapy: Physical therapy is critical in maintaining joint mobility, stretching and strengthening muscles and in preventing and improving chronic pain. A guide to physical therapy in FSHD written by our senior physical therapist, Shree Pandya, and others was published by The FSH Society. A copy of the brochure can be downloaded here.
Treatment of breathing problems: As described above, about 1% of individuals with FSHD develop symptoms related to a reduced lung capacity. The initial intervention in such patient is the use of a BiPAP machine typically at night. The BiPAP machine is a portable device that fits on a nightstand and generates intermittent pressure. The pressure, transmitted to the patient’s lungs through a face or nasal mask, helps them take a deeper breath. If the lung capacity is severely reduced, BiPAP may not adequately compensate for the patient’s breathing problems. In such cases, a ventilator that provides a fixed volume of air to the patient’s lungs, typically through a tracheotomy, may be required.
Other treatments: Rarely, interventions mentioned above may be required such the use of a hearing aid or laser therapy for prevention of Coat’s disease.
What is FSHD?
How is FSHD inherited?
What are the Symptoms of FSHD?
Does FSHD affect other parts of the body?
Is infantile FSHD different from other forms of FSHD?
What can someone with FSHD Expect as they age?
How is FSHD Diagnosed?
What causes FSHD?
Are there any treatments for FSHD?

For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu