Helping patients and families improve their quality of life and regain a sense of control

For Patients

Health Information About FSHD


FSHD is highly variable, even among family affected members.  There is great variation in the extent to which different muscles are affected and in the extent to which a person with FSHD may or may not have symptoms that are often associated with FSHD, such as pain and fatigue.  Each person is unique and possesses a unique combination of genetic and environmental factors that influence his or her body and health in general and FSHD in particular.  Nevertheless, generalizations can be made.
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 and high stress will make it harder. 

Many studies have confirmed that getting enough sleep, and getting it regularly, is vital for everyone.  Because people with FSHD typically become fatigued more easily than able-bodied people and their muscles have to work harder to perform basic, everyday functions, it’s essential for FSHD patients to get plenty of sleep, and to get it consistently. 

Stress harms the human body in many ways.  Many FSHD patients have found practices such as meditation, yoga, breathing exercises, massage, the Alexander Technique and the Feldenkrais Method effective in reducing stress.  These practices aim to make people aware of how they actually use their bodies and how to improve their habits.

FSHD can affect things in ways that are not obvious or direct.  For example, someone with FSHD may begin to feel pain in her knees and be unaware of the source, knowing that she hasn’t recently had a fall or injury.  The x-rays are normal, and a doctor who lacks experience in muscular dystrophy may not be able to find the cause of the pain.  But it may be that her legs have gotten weaker by just enough that the amount of standing, walking and climbing stairs she normally does has begun to strain her knees.  However, she may not yet actually feel or notice that her legs have gotten weaker.  A neurologist, orthopedist or physical therapist with experience in muscular dystrophy may have an educated hunch about the cause, and if he or she is perceptive and knows the patient well, may even observe a small change in her gait.  The doctor or therapist might recommend a soft knee support and more frequent rests when standing or walking, which might eliminate or mitigate the pain.

It’s also important not to attribute to FSHD a symptom merely because there appears to be no other explanation.  If the symptom is not either a recognized direct symptom of FSHD or a logical indirect effect, it’s advisable to continue trying to find the cause and not just assume it’s due to FSHD.

The side effects of some medications and other medical treatments may be more problematic for some FSHD patients than for people without FSHD.  For example, a medication for urinary problems may cause mild dizziness that able-bodied people can manage safely, but may greatly increase the risk of falls and injury for an FSHD patient who walks with difficulty or who uses a wheelchair and requires stability and concentration to transfer in and out of the wheelchair.  An urologist may focus only on how successful the drug is in treating the urinary problem, advising the patient to take the drug and tolerate the dizziness.  An FSHD patient in this situation may need to explain to the urologist why the side effects of this medication are more problematic for her than for other people, and urge the doctor to consider an alternative treatment. 

Some diagnostic tests, x-rays and medical treatments may be more difficult for FSHD patients with significant mobility limitations (as for other people with similar limitations) than for able-bodied people.  If the doctor is made aware of the mobility limitations, he may be able to provide alternatives.  For example, some dentists and dental hygienists are able and willing to work on a patient who remains in her wheelchair with the back reclined.  Similarly, an ophthalmologist or optometrist can perform some eye tests while the patient remains in her wheelchair, such as checking eye pressure with a portable device.  Some colonoscopy preparations are physically easier than others.  There may be alternatives to the usual diagnostic or treatment methods, but the medical professional may not be in the habit of using them.  A proactive FSHD patient who asks whether alternatives are available will often find that the medical professional is receptive, creative and eager to use alternatives to avoid the difficulties involved in the usual methods.

Recuperation from illness or injury may be slower and more difficult for some people with FSHD.  It’s important for them to explain this to their doctors.  A minor surgery that requires a short hospital stay for most people might require a longer one for some FSHD patients, whose bodies may not have that extra bit of “oomph” to bounce back as fast from the trauma of the surgery and from the post-operative inactivity.  FSHD patients may also benefit from having the 24x7 help available in a hospital.  Having help may reduce the risk of falling at a time when the patient is weak and in pain.  Paradoxically, it also may enable her to begin exercising more quickly than if she were at home without help.  Doctors are often receptive to a longer hospital stay if they understand the need for it. 

Because of the muscle breakdown caused by FSHD, inactivity can be even more problematic for FSHD patients than for other people.  To reduce the risk of flu and the resulting inactivity, some FSHD patients take flu shots even though other young and middle-aged adults typically aren’t encouraged to get flu shots.  Some surgeries can be done using either a general or a local anesthetic; some people with FSHD who can tolerate the pain explore with their surgeons the possibility of using a local anesthetic to shorten the period of inactivity.

FSHD patients who can’t walk may be at risk of developing blood clots on long airplane flights.  On the advice of their doctors, some people take an anti-blood clotting prescription medication before flights to reduce the risk of clotting.

Pain and FSHD

Cardiac Involvement and FSHD

Pulmonary and Respiratory Health and FSHD

Exercise, Physical Therapy and FSHD

Surgical Treatments and Management in FSHD

Assistive Technology and Equipment for FSHD

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The information on this website is provided for general informational and educational purposes only.  The FSH Society and this website do 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 Facioscapulohumeral Muscular Dystrophy and any other medical conditions.  Neither the FSH Society nor any contributor to this website can be liable or responsible for any result derived from the use of this material.

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FSH Society, Inc. • 450 Bedford Street • Lexington, MA 02420 • Tel: 781 301-6060 • Fax: 781 862-1116