MDA leads the search for treatments and therapies for facioscapulohumeral muscular dystrophy (FSHD). The Association also provides comprehensive supports and expert clinical care for those living with FSHD.
In this section, you’ll find up-to-date information about facioscapulohumeral muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
As you learn more about FSHD, always remember that you’re not alone. MDA is here for you and your family, standing ready to provide help and hope. There is a place for you in the MDA FSHD community.
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Please know that there’s a role for you in the fight against facioscapulohumeral muscular dystrophy. The MDA community is strong and dedicated, with opportunities for involvement at all levels, such as:
Please know that there’s an important role for every member of the FSHD community. We urge you to contact your local MDA office  to learn more.
An FSHD diagnosis doesn’t mean an end to your hopes and dreams. Changes, challenges and adaptations lay ahead, but also opportunity, fulfillment, joy and hope for a future free of facioscapulohumeral muscular dystrophy.
Never forget that MDA is here to help.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected.
The long name comes from facies, the Latin word and medical term for face; scapula, the Latin word and anatomical term for shoulder blade; and humerus, the Latin word for upper arm and the anatomical term for the bone that goes from the shoulder to the elbow.
The term muscular dystrophy means progressive muscle degeneration, with increasing weakness and atrophy (loss of bulk) of muscles. In FSHD, weakness first and most seriously affects the face, shoulders and upper arms, but the disease usually also causes weakness in other muscles.
FSHD usually begins before age 20, with weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. Later, weakness can spread to abdominal muscles and sometimes hip muscles.
Some experts divide FSHD into adult-onset and infantile-onset forms. The adult-onset (which includes FSHD that begins in adolescence) is far more common.
In either type of FSHD, facial weakness can start in childhood. Occasionally, other FSHD symptoms appear in early childhood. Infantile-onset FSHD generally runs a more pronounced course with regard to muscle weakness and sometimes also affects hearing and vision. Preliminary evidence suggests that the infantile-onset form is associated with a larger piece of missing DNA. For more, see Signs and Symptoms .
FSHD may be inherited through either the father or the mother, or it may occur without a family history. It is almost always associated with a genetic flaw (mutation) that leads to a shorter than usual segment of DNA on chromosome 4. The segment isn’t part of any particular gene, but it nevertheless seems to interfere with the correct processing of genetic material.
A small number of people have a disorder that looks exactly like FSHD but don’t have the short segment on chromosome 4. The genetic cause of their disorder has yet to be identified.
FSHD usually progresses very slowly and rarely affects the heart or respiratory system. Most people with the disease have a normal life span.
In 2009, MDA-supported researchers found that pieces of a gene called DUX4 are abnormally activated in FSHD-affected cells, leading to production of potentially toxic proteins. Blocking the erroneously activated genes or the proteins made from them seems a likely pathway for the eventual treatment of FSHD. For more, see Research .
The age of onset, progression and severity of FSHD vary a great deal.
Usually, symptoms develop during the teen years, with most people noticing some problems by age 20, although weakness in some muscles can begin as early as infancy and as late as the 50s. In some people, the disease can be so mild that no symptoms are noticed. In these cases, the disease may only be diagnosed after another, more affected member of the family comes to medical attention.
People with FSHD often don’t go to the doctor until their shoulder or leg muscles become involved and they experience difficulty reaching over their heads or going up and down stairs. When questioned closely, many people can remember having symptoms in childhood, such as shoulder blades that stuck out or trouble throwing a ball. Very often, people say they’ve never been able to whistle or blow up a balloon, or that they’ve had trouble drinking through a straw, but they may not have associated these problems with muscular dystrophy.
FSHD doesn't cause learning disabilities or other cognitive impairments, nor does it affect sensation, ability to control the bladder and bowels, or sexual function.
In most people with FSHD, the disease progresses very slowly. It can take as long as 30 years for the disease to become seriously disabling, and that doesn’t happen to everyone. Estimates are that about 20 percent of people with FSHD eventually use a wheelchair at least some of the time. For more on corrective measures for some of these symptoms, see Medical Management .
In many people with FSHD, weakness develops in the muscles of the abdomen. These can weaken early in the disorder. As abdominal weakness progresses, the person develops a lordosis, an exaggerated curve in the lumbar (lower) region of the spine.
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Some abnormalities in the blood vessels of the retina, the “screen” on the back of the eye onto which visual images are projected, are often detected in people with FSHD. Fortunately, very few people have any problems with vision resulting from this, but it should be monitored by an eye doctor. For reasons that aren’t clear, the problem is generally more common in infantile-onset FSHD. The origin of the retinal problem isn’t well understood in either form of the disease.
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Although cardiac involvement can sometimes be a factor in FSHD, it’s rarely severe and is often discovered only with specialized testing. Some experts have recently recommended monitoring of cardiac function in those with FSHD.
The muscles used for breathing commonly aren't affected in FSHD, as they are in other forms of muscular dystrophy. However, testing of pulmonary function at intervals may be recommended for some patients.
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|Facial weakness can make it hard to use a straw or even smile.|
Facial weakness  is often the first sign of FSHD. It may not be noticed right away by people with FSHD, and usually is brought to their attention by somebody else.
The muscles most affected are those that surround the eyes and mouth. It’s hard to smile or pucker up or get much strength in the mouth, which is why people with the disease have trouble with balloons, straws and whistling.
Of somewhat more concern is the weakness in the eye muscles, which can keep the eyes from closing completely during the night. As the disease progresses, the eyes can sometimes dry out overnight, which can injure them. Waking up in the morning with gritty, burning or dry eyes may be a sign that eye closure isn’t complete.
Wearing an eye shield or patching the eyes during sleep may be necessary.
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In some people, weakness of the hip muscles that surround the pelvis (he pelvic girdle) also occurs. This doesn’t happen to everyone. Weakness of the hips seems to start most often in middle adulthood, if it happens at all.
Hip weakness causes trouble with rising from a chair or negotiating stairs and can lead to the need for a wheelchair, especially for long distances. Upper leg muscles are sometimes also affected. Pelvic girdle weakness may result in a waddling gait and contribute to the lordosis so often seen in FSHD.
In children with FSHD, hip weakness may be the first thing parents notice, since it causes trouble with walking and running.
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When muscle weakness is prolonged, it can lead to freezing of joints in one position, called a contracture. In FSHD, if contractures occur at all, they’re likely to be in the ankle joints. See Medical Management  for information on exercising with FSHD.
The spinal column is actually made up of many joints between the vertebrae. The spine is designed to be flexible, somewhat like a Slinky toy, so when the muscles surrounding the spine weaken, the column is pulled out of alignment.
The misalignment often takes the form of lordosis, where the spine curves in to an excessive degree and the stomach sticks out. But it also can take the form of scoliosis, in which the spine curves to the side, like an S. The scoliosis that sometimes occurs in FSHD usually isn’t severe.
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As FSHD progresses, the muscles on the front and sides of the lower legs often weaken. These are the muscles that allow us to raise the front of the foot when walking so we don’t trip over our toes.
When these muscles weaken, the foot stays down after pushing off during walking, sometimes tripping the walker. This condition is called foot drop.
The doctor may say, “Walk on your heels, like a penguin” to test the strength of these foot-lifting muscles.
When questioned, people will say, “I seem to catch my foot when I walk” or “I seem to fall over my own feet.” Trouble with stairs and with uneven surfaces is common.
Not everyone with FSHD develops this lower leg problem.
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Hearing loss sometimes occurs in FSHD, but it’s usually mild and mostly affects perception of high-pitched sounds. Often, it’s so minor that it isn’t noticed until careful testing is done (for example, as part of a study). In those with adult-onset FSHD, some experts have even questioned whether hearing loss is really more common than it is in adults in general. The reason for the hearing loss, when it occurs, isn’t clear.
When FSHD starts in childhood, loss of hearing in the higher pitch ranges can be more profound than in adult-onset FSHD. The reason for this isn't yet understood.
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Inflammation of muscles — an attack by certain types of cells of the immune system — occurs in some muscular dystrophies and can be extensive in some people with FSHD.
For this reason, FSHD is sometimes misdiagnosed as another type of muscle disease, polymyositis , a nongenetic disorder in which the immune system attacks the muscles. An important difference is that polymyositis is treatable with prednisone, a corticosteroid drug that suppresses inflammation, but prednisone doesn’t affect the course of FSHD. The many side effects of corticosteroids make them impractical to use just to relieve discomfort.
Pain in FSHD may also come from the way weakened muscles pull bony structures, such as the spine and shoulder blades, out of alignment.
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|Top: Because of weakness in the shoulders and back, muscles that normally don’t show from the front are visible in FSHD. Bottom: This man also shows a typical nonsymmetrical pattern of weakness, with scapular winging and slight scoliosis.|
Most people with FSHD notice weakness in the area of the shoulder blades — the scapulae — as the first sign that something is amiss.
The shoulder blades are normally fairly fixed in their position. They act as fulcrums that allow the arm muscles to get leverage for lifting things, including their own weight.
In FSHD, the muscles that hold the shoulder blades in place weaken, allowing these bones to move excessively. The shoulder blades stick out and rise up toward the neck as they move, which is called scapular winging, because the protruding bone resembles a wing.
Leverage is at least partially lost. The weakness often isn’t the same on both sides of the body.
Early on, the person with FSHD notices things like being unable to throw a ball effectively. Later, it may be hard to lift the arms over the head to do one’s hair or reach a high shelf or hang something. These problems are due to weakening of the muscles around the shoulder and in the upper arm. For information about shoulder surgery for this problem, see Medical Management .
In most people with FSHD, weakness differs at least a little bit between the left and right sides of the body. In some people with FSHD, this difference between sides can be quite striking. The reason for this lack of symmetry, which is not seen in most types of muscular dystrophy, is not clear.
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Today, the most reliable way to diagnose facioscapulohumeral muscular dystrophy (FSHD) is with a test for a tiny missing section of DNA on chromosome 4. This test, which is performed on blood cells, is considered highly accurate for FSHD, even though no specific gene has been identified as being associated with the disorder.
In people who have a family history of the disease and are showing signs of it, a DNA test  is generally all that need be done to confirm whether FSHD is likely to develop. (See Causes/Inheritance .)
In many cases, however, people with no family history are suspected of having either FSHD or some other neuromuscular disorder. In these situations, less expensive and less specific tests than the FSHD DNA test may be done first.
One test is a creatine kinase level . This test, also performed on a blood sample, measures the amount of an enzyme known as creatine kinase in the blood. When muscle cells breakdown, as they do in muscular dystrophies and some other disorders, the creatine kinase, or CK, level is elevated. Creatine kinase was formerly called creatine phosphokinase, or CPK.
Another type of diagnostic test is the electromyogram, or EMG , which measures the electrical activity in the muscles.
A nerve conduction velocity, or NCV, test may also be done. This involves measuring how fast signals travel from one part of a nerve to another.
Another diagnostic procedure sometimes undertaken is the muscle biopsy . In this procedure, a small piece of muscle is taken, under local anesthesia, usually from the arm or leg. Biopsy samples reveal cellular and molecular abnormalities that suggest certain muscle disorders and rule out others.
Muscle biopsies are less often performed today than in the past, especially when there’s a DNA test for the disease the doctor suspects is causing the symptoms — as there is for FSHD. Muscle biopsy samples, however, are extremely valuable to researchers seeking to understand the relationship between the DNA results and what actually happens inside the muscle.
FSHD can be confused with polymyositis , which is neither a genetic disease nor a muscular dystrophy. It also can be confused with certain conditions of the nervous system that aren’t muscle disorders.
Seeing a neurologist who specializes in neuromuscular disorders at an MDA clinic  or major medical center, and agreeing to a full assortment of diagnostic procedures, will increase the possibility of an accurate diagnosis.
Diagnoses made many years ago (for example, in older family members) may be worth revisiting. Many DNA tests and other diagnostic approaches became available during the 1990s. For more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century .
In facioscapulohumeral muscular dystrophy (FSHD), a small section of the DNA on chromosome 4 that’s shorter than usual is inherited in an autosomal dominant pattern, meaning it only takes one such mutation (from one parent) to cause the disorder. This altered piece of DNA also can occur spontaneously in a child as he or she develops in the womb.
FSHD can affect either males or females. In a small number of people with FSHD, the usual chromosome 4 mutation can’t be identified. In most affected people, it can be, with genetic testing. (For more on this, see Diagnosis .)
FSHD is one of many genetic disorders in which germ line mosaicism  is believed to occur. Germ line refers to egg or sperm cells. In this phenomenon, some sperm or egg cells in a parent carry a particular mutation.
In families with more than one child with FSHD but no previous family history, it’s likely that one parent has germ line mosaicism and that affected children were conceived with egg or sperm cells carrying the FSHD mutation. In these situations, the parents have no symptoms, and, if their blood cells are tested, they don’t show the mutation.
For more about genetics of FSHD and other neuromuscular diseases, see Facts About Genetics and Neuromuscular Diseases .
For help in understanding your family’s specific situation and planning for future children, it’s best to meet with a genetic counselor. You can obtain a referral to a counselor through your MDA clinic .
Medical treatments for FSHD are relatively few, and none are specific to the disease. There’s no treatment that can halt or reverse the effects of FSHD, but there are treatments and devices to help alleviate many of the symptoms.
Anti-inflammatory drugs known as nonsteroidal anti-inflammatories, or NSAIDs, are often prescribed to improve comfort and mobility. These are the same drugs taken by many people with arthritis and other inflammatory conditions.
|People with FSHD who have at least one strong deltoid muscle (at the top of the arm) may choose to have a surgical procedure in which the scapula (shoulder blade) is tethered to the back of the rib cage, allowing the deltoid the leverage it needs to lift the arm.|
|A corset-style back support worn under clothes can help keep the shoulders and lower back in better alignment.|
Surgical procedures to stabilize the shoulder blades  (scapulae) by attaching them to the ribs have helped some people with FSHD.
In this procedure, the scapulae are fixed to the ribs so that they don’t move. The patient gains some leverage with the arm on the side that’s had the operation, since the scapulae no longer slide around.
Although this type of surgery may actually decrease the arm’s range of motion (since the shoulder blade can no longer rotate normally), the ability of the arm to function may be better, since the arm’s leverage point is now stable.
It’s important to go to a surgeon who fully understands FSHD and has had experience with this exact type of surgery.
Physical therapists often recommend devices such as back supports, corsets, girdles and special bras for people with FSHD. These supports help to compensate for weakening muscles in the upper and lower back.
Lower leg braces, known as ankle-foot orthoses, or AFOs, can compensate for weakening muscles in the lower leg that cause tripping and falling. These may be recommended by the physician or physical therapist and can be purchased as off-the-shelf or custom-made models. Some people find a lightweight, high-top shoe can be as helpful as an AFO in supporting the foot, at least in the early stages of weakness.
Physical therapists advise that those with FSHD shouldn’t resist using these types of devices for fear their muscles will get “lazy.” A supportive corset or AFO can help with mobility and endurance, they say, and supporting muscle in a normal position can help you use your remaining strength more effectively.
Massage or warm, moist heat (for example, from hot packs you can put in a microwave) are also good for the discomfort associated with FSHD.
Since the precise underlying defect that causes muscle loss in FSHD isn’t yet understood, it’s hard to make precise recommendations about exercise.
However, physical therapists who have observed people with FSHD for many years say that moderate exercise appears to do no harm and may even be helpful, at least for muscles that haven’t severely weakened.
Therapists advise that exercise shouldn’t cause muscle cramping, significant muscle pain or extreme fatigue. An exercise program for someone with FSHD should be directed by a professional, such as a physical or occupational therapist, who has experience with neuromuscular disorders. The program should emphasize exercising muscles that are still relatively strong and resting those that have weakened. This can be accomplished with careful positioning and adaptation of standard exercise regimens.
For more on this topic, see Exercising with a Neuromuscular Disease .
There’s no specific diet known to help in FSHD or any other muscular dystrophy.
Consult with your MDA clinic  doctor about specific dietary recommendations for you and for advice on dietary supplements. Some doctors recommend the dietary supplement creatine for people with muscle disorders, but it should be taken with care and under medical supervision.
In 1990, the genetic defect that underlies facioscapulohumeral muscular dystrophy (FSHD) was located on chromosome 4. Many investigators assumed that one gene would be found that, when flawed, would lead to the development of the symptoms recognized clinically as FSHD. This turned out not to be the case.
No genes were found in the region of chromosome 4 that's shortened in people with FSHD. Instead, the shortened strip of DNA is found in a part of the chromosome where there are no genes. The function of this type of DNA is the subject of scrutiny by research teams around the world.
Recent findings suggest that the flawed DNA on chromosome 4 may play an important role in telling the cell which genes should be processed into proteins and which shouldn’t. All cells have genes that are “turned on” (available to be processed for protein production) and others that are “turned off” (not available for processing). This gene regulation is what distinguishes one type of cell from another — for example, a muscle cell from a bone cell.
In 2002, MDA-funded scientists found that the shortened DNA segment on chromosome 4 may eliminate a site where a molecular braking system normally “lands” and keeps certain genes from being inappropriately turned on.
In 2009, MDA-supported researchers found that pieces of a gene called DUX4 are abnormally activated in FSHD-affected cells, leading to production of potentially toxic proteins. Reinstating the normal braking system or using some other method to block the erroneously activated genes or the proteins made from them seems a likely pathway for the eventual treatment of FSHD.
There may be additional factors involved in FSHD as well. The shortened stretch of DNA on chromosome 4 may, some experts say, change the shape of the chromosome and affect its interactions with distant genes or with an envelope that surrounds each cell nucleus.
For more about research in FSHD, see Impossible Things: Through the looking glass with FSH dystrophy researchers .
A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.
Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic  doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)
For a more refined list of FSHD clinical trials, visit ClinicalTrials.gov , a registry of federally and privately supported clinical trials in the United States and around the world. Select "Search for Clinical Trials," and follow the instructions to narrow down your search results.
I was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) when I was 15 years old and trying to do weight training for the freshman football team. After the shock of learning that I had “muscular dystrophy” subsided, I found that my life really hadn't changed a great deal. I still had homework to do, a driver’s license to look forward to, my friends and my family.
Blessed with a great family who taught me the values of my faith and provided remarkably fine educational opportunities, I was able to become a physician.
Now, I work as a neurologist at the University of Cincinnati and am the director of one of our MDA clinics. I love my work. Thanks to my power scooter and ramped van, I can get just about anywhere.
After dealing with FSHD for more than 40 years, I’ve learned that I can do quite a lot — I just have to do it differently than others.
This is not to say, however, that FSHD doesn’t cause frustrations and sacrifices. Losing the ability to walk even short distances is a pain. (Not all accessible restrooms are created equal!) So, I’ve learned to check things out in advance. I also try to focus on things that I can do and put things that I can't do out of my mind. It works most of the time.
FSHD is a highly variable disease. The pattern of weakness, rate of progression and level of physical pain can be quite different from one person to another. But the limitations created by FSHD don't always turn out for the worst.
In high school, giving up sports seemed like a big loss. Now, I’m not so sure. Perhaps it was a blessing in disguise, guiding me to spend more time on my studies.
We live in a time when people with physical disabilities have more access than ever before to education, equal employment opportunities and public places. I recommend taking full advantage of your local MDA office ; they’re very helpful in answering questions and helping you get established at an MDA clinic, where you’ll find physicians who are knowledgeable about muscle diseases.
MDA-supported research is making real and exciting progress deciphering the underlying causes of FSHD, with an eye toward developing therapies to treat the disease.
The good news is that people with FSHD have long lives to live. So think about things that you like to do and then choose work, hobbies and volunteer activities that maximize your strengths and minimize your weaknesses.
And always remember: You're not alone. You have your friends, family, a great country and a wonderful ally in the Muscular Dystrophy Association.
John Quinlan, M.D.
Lakeside Park, Kentucky