FSHD is highly variable, even among affected family members. Each person is possesses a unique combination of genetic and environmental factors that influence his or her body and health. This information is provided for general informational and educational purposes only. The FSHD Society does not provide medical advice or recommendations. Licensed physicians and other medical professionals who are familiar with an individual’s specific health situation should be consulted for diagnosis and treatment of FSHD and any other medical conditions.
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Managing FSHD requires, first and foremost, managing one’s overall health. Healthy habits and practices will help manage and cope with FSHD, while poor ones such as smoking, poor diet, not getting enough sleep and high stress will make it harder.
FSHD can affect things in ways that are not obvious or direct. For example, a doctor who lacks experience in muscular dystrophy may not be able to find the cause of a specific pain and basic tests such as an x-ray will not offer any indications as to the pain source.
A neurologist, orthopedist or physical therapist with experience in muscular dystrophy may have an educated hunch about the cause of pain and may be able to provide the appropriate relief measures.
The side effects of some medications and other medical treatments may be more problematic for some FSHD patients than for people without FSHD. If a patient has FSHD and has been prescribed specific medications by a physician, the patient should monitor any side effects closely and notify their doctor accordingly.
An annual flu vaccination is strongly encouraged for anyone with FSH muscular dystrophy, especially patients who are older and anyone with respiratory involvement. If a patient is immunocompromised, they should avoid the live attenuated vaccine (but the standard flu vaccine is inactivated). The pneumonia vaccine is also strongly encouraged for people with respiratory issues. Periods of inactivity can accelerate muscle weakening, so this is another important reason to take preventive measures against contracting influenza.
FSHD patients who can’t walk may be at risk of developing blood clots on long airplane flights or other instances where one is required to sit for an extended duration. On the advice of their doctors, some people take an anti-blood clotting prescription medication before flights to reduce the risk of clotting.
A majority of FSHD patients reports pain, which often can be chronic. Pain may be related, at least in part, to overuse of muscles and to fatigue. Not many studies have been done about pain in FSHD. Whether to treat pain, and, if so, how is a decision for each patient in consultation with his or her doctor.
For a discussion of treating pain, please see our Physical Therapy for FSHD brochure written by Shree Pandya, PT, DPT, MS, and Kate Eichinger, PhD, PT, DPT, NCS, published by the FSHD Society.
Cardiac complications in facioscapulohumeral muscular dystrophy (FSHD) are rare, and patients in general have normal longevity. This predisposes them to the usual age-related cardiac complications, and management of these problems is the same as in non-dystrophic patients.
The presence of cardiac abnormalities in FSHD is debated. Consult your physician or call the FSHD Society volunteers at 781-301-6060 for a guide on related research.
Pulmonary and respiratory complications may occur with FSHD patients. Evaluation of the symptoms and signs of respiratory insufficiency should be sought during routine clinic visits in patients with moderate to severe FSHD. Patients are encouraged to regularly monitor respiratory functions as one might experience insufficiency over a long period of time without presenting signs.
If a patient is experiencing symptomatic respiratory insufficiency, it can be initially managed with nighttime non-invasive pressure support e.g. a BiPAP machine. In very severe cases, patients may require the use of a ventilator. For FSHD patients with respiratory insufficiency, care should be taken not to suppress respiratory drive with narcotics unless it is a situation of palliative care. In trauma (ER, ICU), surgery and anesthesiology settings, it is important to notify the doctors about FSHD and any respiratory problems the patient might have or be at risk for.
A physical therapist (PT) who is experienced with FSHD patients can be invaluable. For example, physical therapists can:
- Administer some exercises directly (e.g., stretching)
- Teach patients how to perform other exercises
FSHD patients ask their doctors to prescribe physical therapy when:
- It feels like their FSHD is progressing more rapidly than usual
- They want to periodically to monitor how they perform their exercises
- They need to rehabilitate specific conditions or injuries such as strained or pulled muscles or injuries from falls.
- They want a regular “tune up!”
Please see our Physical Therapy for FSHD brochure written by Shree Pandya, PT, DPT, MS, and Kate Eichinger, PhD, PT, DPT, NCS, published by the FSHD Society.
As with all exercise, it’s important for FSHD patients to consult their doctors first but here are a few exercises that have worked successfully for patients.
Swimming. Many FSHD patients have found swimming beneficial as it has a low impact on the joints and bones and patients have a low risk of injury. The buoyancy of the water provides resistance, which affords the opportunity for gentle exercise and stretching. It also enables some people to do things they are unable to do on land – for example, someone who can’t stand or walk on land may be able to stand and walk in water.
Watsu. This form of massage done in the water combines the benefits of ordinary massage and being in the water. Both massage and Watsu should be done only by certified professionals. www.Watsu.com.
Antigravity Treadmill. Some patients report an increase in strength from working out with the AlterG antigravity treatmill. See our blog post.
Standing Frame. For some people with FSHD who can no longer walk, standing with the aid of a standing frame can be beneficial. A standing frame is a piece of equipment that can straighten and elevate a person into a standing position, and support him in that position. Patients that use a standing frame can help maintain range of motion and reduce the possibility of contractures, relieve pressure on the posterior, increase circulation, reduce stress, realign the internal organs and provide weight bearing to preserve bones.
Also see our Physical Therapy for FSHD brochure
A number of surgical methods have been developed to address some of the debilitating loss of functional muscle such as scapular winging and weakness around the mouth. Not every patient is a suitable candidate for surgery. A surgeon must have a thorough understanding of FSHD and carefully assess each individual to determine the risk and potential benefit, including whether a patient will be able to go through physical rehabilitation after surgery.
Various forms of professional consultation, resources and technologies can help FSHD patients in their daily lives. Here’s a sampling of various tactics that a patient can do to alleviate their pain and/or optimize efficiency in their daily lives.
Consult an occupational therapist (OT). An occupational therapist (OT) is a healthcare professional trained in rehabilitation who helps people learn how to do the activities of daily life. OT’s can help FSHD patients improve function, increase comfort and reduce stress, fatigue and risk of injury. They can also provide home visits to observe the actual conditions of daily living and recommend ways of improving safety, efficiency, comfort and convenience. Home visits also help caregivers find ways to improve comfort and efficiency and reduce their burden and risk. Consider the viability of coordinating a joint home visit by an OT and a physical therapist as this can be especially effective.
Some OTs are also experts on workplace ergonomics. Many employers are willing to pay for an ergonomics consultation. If an employee has a disability as defined by the Americans with Disabilities Act, the employer may be legally required to do so. Simple and inexpensive modifications in the workplace can often improve the ability of someone with FSHD to perform efficiently, comfortably and safely.
Use voice recognition software. Computer use can strain and fatigue the hands, wrists and arms of some people with FSHD which can be alleviated via voice recognition software.
Assistive technology. As a person’s FSHD progresses, he may need to use assistive technology and equipment including wheelchairs, scooters, canes, walkers, lifters, reachers, ramps, electric beds and commode/shower chairs. OTs are experts in assistive technology and equipment – consult them for more guidance.
Driving. Some people’s FSHD progresses to the point where they begin to feel uncomfortable or unsafe driving. At this point it is critical to have their driving evaluated by an adaptive driving expert. Some hospitals have adaptive driving programs which are usually staffed by an OT who is also a certified driving instructor. Evaluations are expensive and insurance usually doesn’t cover them. But if driving is necessary to maintain employment, the rehabilitation agencies of some states may pay part or all of the cost of an evaluation, adaptive driving equipment and training. An increasing variety of adaptive driving technology is available, from simple mechanical hand controls to sophisticated electronic controls.