9. Are there any treatments for FSHD?

There are no known treatments that will reverse the muscle weakness and wasting in FSHD. However, development of a targeted treatment that reverses the specific cause of muscle weakness and wasting is now possible as the underlying cause for FSHD has been identified. Research is now focused on findings ways to practically and safely target the DUX4 protein production or block its effects on muscle cells.  Such an intervention may take several years to develop and test before clinical trials are started. In addition, there are a number of pharmaceutical companies working on treatments that can boost muscle regenerative capacity.  Such an intervention may help restore muscle strength but it does not deal with the underlying cause of the muscle degeneration.

Although there are treatment as yet that reverse muscle weakness in FSHD, a lot can be done to maximize function and minimize complications from the disease: 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 in section 2, significant reduction in lung capacity in patients with FSHD is uncommon but more likely to be observe in those with more with more severe disease. Patient with symptoms of non-restful sleep, morning headaches, the need to prop oneself on two or more pillows when sleeping, and excessive short of breath with minimal exertion may be indications of reduced lung capacity.  Such patients should undergo evaluation of their lung capacity (pulmonary function test). About 1% of individuals with FSHD develop significant 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.
  • Retinal and hearing problems: As described in sections 2 and 3, screening for retinal problems in infantile FSHD and those with large deletions in FSHD1 is important to try to prevent retinal hemorrhage that can result in blindness.  Similarly screening for hearing loss in the same population may help prevent delayed or impaired language development in children.


    1. What is FSHD?
    2. How is FSHD inherited?
    3. What are the Symptoms of FSHD?
    4. Does FSHD affect other parts of the body?
    5. Is infantile FSHD different from other forms of FSHD?
    6. What can someone with FSHD Expect as they age?
    7. How is FSHD Diagnosed?
    8. What causes FSHD?
    9. Are there any treatments for FSHD?

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