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Facts About Facioscapulohumeral

Updated December 2009 Dear Friends:

acioscapulohumeral muscular dys- muscular dystrophy, this one typically Ftrophy (FSHD) has been a part of my isn’t threatening to heart and breathing family’s life for many years. function.

My great-great-grandfather had FSHD — MDA’s research program is constantly and lived to 102! Of the five children in making strides toward better treatments my mother’s family, three were affected, and a cure. In the meantime, it’s good to including my mother, who received the know that people with have diagnosis in her 30s. So when I was more opportunities than ever before to 9 years old and my parents saw my develop and use their abilities, as well “crooked smile,” they knew. as legal rights to equal employment opportunity and access to public places. This booklet has been prepared to give Federal law guarantees children with you the basic knowledge about FSHD that physical and cognitive disabilities a pub- you’ll need to make your life as enjoyable lic education with whatever supports they and productive as possible. With this need. information, you or your children can be prepared for changes to come and armed MDA has been a wonderful ally in my to minimize many effects of the disease. fight against this disease. “MDA Is Here to Help You” on page 10 introduces By understanding how the disease affects MDA’s many services. me in different ways, I’ve been able to have a full and rewarding personal and As you face the challenges ahead, please professional life. My wife, Joy, and I have remember: You’re not alone. You can one child and three grandchildren, none have a good life with FSHD. of whom have FSHD. For the past six years I’ve been blessed with a magnifi- cent canine companion, Randdel, a gold- Paul Topkin en retriever service dog. Until recently, I had a demanding hobby building replicas Paul Topkin of historic ships. I now focus on stamp Lakeland, Florida collecting, and through my store on eBay, P&J Collectables, buy and sell sheets of U.S. mint stamps.

Like me, you’ll find ways to strike a bal- ance between doing too much and doing too little. Never think that life is over!

From this booklet you’ll learn some encouraging things about FSHD: There are treatments and interventions for most of the symptoms and difficulties that arise with the disease. FSHD doesn’t shorten life expectancy, and for most people it progresses very slowly, giv- ing you time to prepare for and adjust to changes. Unlike some other forms of

2 FSH • ©2009 MDA What is Facioscapulohumeral Muscular Dystrophy? acioscapulohumeral muscular dys- Are there different forms of Ftrophy (FSHD) is a genetic muscle FSHD? disorder in which the muscles of the face, shoulder blades and upper arms are Some experts divide FSHD into adult- among the most severely affected. onset and infantile-onset forms. The adult- onset (which includes FSHD that begins in The long name comes from facies, the adolescence) is far more common. Latin word and medical term for face; scapula, the Latin word and anatomical In either type of FSHD, facial term for shoulder blade; and humerus, the can start in childhood. Occasionally, other Latin word for upper arm and the anatomi- FSHD symptoms appear in early child- cal term for the bone that goes from the hood. This type of FSHD, the infantile- shoulder to the elbow. onset form, generally runs a more severe course with regard to The term muscular dystrophy means pro- and sometimes also affects hearing and gressive muscle degeneration, with increas- vision. Preliminary evidence suggests that ing weakness and wasting (loss of bulk) of the infantile-onset form is associated with muscles. In FSHD, weakness first and most a larger piece of missing DNA. seriously affects the face, shoulders and upper arms, but the disease usually also What happens to someone causes weakness in other muscles. with FSHD? Because FSHD is a disease that usually The age of onset, progression and severity progresses very slowly and rarely affects of FSHD vary a great deal. the heart or , it isn’t considered life-threatening. Most people Usually, symptoms develop during the with the disease have a normal life span. teen years, with most people noticing some problems by age 20, although weak- What causes FSHD? ness in some muscles can begin as early as infancy and as late as the 50s. In some FSHD is almost always associated with people, the disease can be so mild that a genetic flaw () that leads to a no symptoms are noticed. In these cases, shorter than usual segment of DNA on the disease may only be diagnosed after chromosome 4. The segment isn’t part another, more affected member of the of any particular , but it nevertheless family comes to medical attention. seems to interfere with the correct pro- cessing of genetic material. Usually, people don’t go to the doctor until their shoulder or leg muscles become A small number of people have a disorder involved and they experience difficulty that looks exactly like FSHD but don’t have reaching over their heads or going up and the short segment on chromosome 4. The down stairs. When questioned closely, genetic cause of their disorder has yet to many people can remember having symp- be identified. toms in childhood, such as shoulder For more about how the missing chro- blades that stuck out or trouble throwing mosome 4 segment may cause FSHD, a ball. Very often, people say they’ve never see “MDA’s Search for Treatments and been able to whistle or blow up a bal- Cures,” page 9. loon, or that they’ve had trouble drinking

3 FSH • ©2009 MDA through a straw, but they may not have bones to move excessively. The shoulder associated these problems with muscular blades stick out and rise up toward the dystrophy. neck as they move, which is called scapu- lar winging, because the protruding bone In most people with FSHD, the disease resembles a wing. progresses very slowly. It can take as long as 30 years for the disease to become Leverage is at least partially lost. The seriously disabling, and that doesn’t hap- weakness often isn’t the same on both pen to everyone. Estimates are that about sides of the body. 20 percent of people with FSHD eventually After to stabilize her right use a wheelchair at least some of the time. Early on, the person with FSHD notices shoulder blade, this woman has better things like being unable to throw a ball use of her arm and less pain in her upper back. Facial weakness effectively. Later, it may be hard to lift Facial weakness is often the first sign the arms over the head to do one’s hair of FSHD, but it may not be noticed right or reach a high shelf or hang something. away by the person with the disorder. It’s These problems are due to weakening of usually brought to his or her attention by the muscles around the shoulder and in someone else or by a doctor. the upper arm.

The muscles most affected are those that Lower leg weakness surround the eyes and mouth. It’s hard As FSHD progresses, the muscles on the to pucker up or to get much strength in front and sides of the lower legs often the mouth, which is why people with the weaken. These are the muscles that allow Facial weakness can make it hard to disease have trouble with balloons, straws us to raise the front of the foot when walk- use a straw or even smile. and whistling. ing so we don’t trip over our toes.

Of somewhat more concern is the weak- When these muscles weaken, the foot ness in the eye muscles, which can keep stays down after pushing off during walk- the eyes from closing completely during ing, sometimes tripping the walker. This the night. As the disease progresses, the condition is called . eyes can sometimes dry out overnight, which can injure them. Waking up in the The doctor may say, “Walk on your heels, morning with gritty, burning or dry eyes like a penguin” to test the strength of may be a sign that eye closure isn’t com- these foot-lifting muscles. plete. Wearing an eye shield or patching When questioned, people will say, “I seem the eyes during sleep may be necessary. to catch my foot when I walk” or “I seem Shoulder weakness to fall over my own feet.” Trouble with stairs and with uneven surfaces is com- Most people with FSHD notice weakness mon. in the area of the shoulder blades — the scapulae — as the first sign that some- Not everyone with FSHD develops this thing is amiss. lower leg problem. The shoulder blades are normally fairly Abdominal muscle weakness fixed in their position. They act as ful- In many people with FSHD, weakness Because of weakness in the shoulders crums that allow the arm muscles to get develops in the muscles of the abdomen. and back, muscles that normally don’t leverage for lifting things, including their show from the front are visible in These can weaken early in the disorder. FSHD. This man also shows a typical own weight. As abdominal weakness progresses, the nonsymmetrical pattern of weakness, with scapular winging and slight sco- In FSHD, the muscles that hold the shoul- person develops a lordosis, an exagger- liosis. der blades in place weaken, allowing these ated curve in the lumbar (lower) region of the spine.

4 FSH • ©2009 MDA Hip weakness (Deltasone and other brand names), a cor- In some people, weakness of the hip ticosteroid drug that suppresses inflam- muscles that surround the pelvis (doctors mation, while doesn’t seem to call this the pelvic girdle) also occurs. This change the course of FSHD. Its many side doesn’t happen to everyone. Weakness effects make it impractical to use just to of the hips seems to start most often in relieve discomfort. (See “Are there medi- middle adulthood, if it happens at all. Hip cal treatments?” page 7.) weakness causes trouble with rising from Pain in FSHD may also come from the way a chair or negotiating stairs and can lead weakened muscles pull bony structures, to the need for a wheelchair, especially such as the spine and shoulder blades, for long distances. Upper leg muscles out of alignment. are sometimes also affected. Pelvic girdle weakness may result in a waddling gait Joint and spinal abnormalities and contribute to the lordosis so often When muscle weakness is severe and seen in FSHD. prolonged, it can lead to freezing of joints in one position. Such freezing is called In children with FSHD, hip weakness may a contracture. In FSHD, if contractures be the first thing parents notice, since it occur at all, they’re likely to be in the ankle causes trouble with walking and running. joints. Unequal (nonsymmetrical) This woman can barely pull back her weakness The spinal column is actually made up of right foot because of FSHD. many joints between the vertebrae. The In most people with FSHD, weakness dif- spine is designed to be flexible, somewhat fers at least a little bit between the left and like a Slinky toy, so when the muscles right sides of the body. In some people surrounding the spine weaken, the column with FSHD, this difference between sides is pulled out of alignment. can be quite striking. The reason for this lack of symmetry, which is not seen in The misalignment often takes the form of most types of muscular dystrophy, is not lordosis, or swayback, but also can take clear. the form of , in which the spine curves to the side, like an S. The scoliosis Does FSHD have effects that sometimes occurs in FSHD usually other than weakness? isn’t severe. Yes. There are some other things to con- Mild hearing loss sider in FSHD besides muscle weakness. Hearing loss sometimes occurs in FSHD, but it’s usually mild and mostly affects Pain and inflammation Lordosis is typical in FSHD. perception of high-pitched sounds. Often, Inflammation of muscles — an attack by it’s so minor that it isn’t noticed until care- certain types of cells of the immune sys- ful testing is done (for example, as part of tem — occurs in some muscular dystro- a study). Some experts have even ques- phies and can be extensive in some people tioned whether hearing loss is really more with FSHD. common in adult-onset FSHD than it is in For this reason, FSHD is sometimes mis- adults in general. The reason for the hear- diagnosed as another type of muscle dis- ing loss, when it occurs, isn’t clear. ease, , a nongenetic disorder When FSHD starts in childhood, loss of in which the immune system attacks the hearing in the higher pitch ranges can be muscles. An important difference is that more severe than in adult-onset FSHD. polymyositis is treatable with prednisone The reason for this is likewise unclear.

5 FSH • ©2009 MDA Abnormalities of the retina How is FSHD diagnosed? Some abnormalities in the blood vessels of the retina, the “screen” on the back of Today, the most reliable way to diagnose the eye onto which visual images are pro- FSHD is with a test for a tiny missing jected, are often detected in people with section of DNA on chromosome 4. This FSHD. Fortunately, very few people have test, which is performed on blood cells, is any problems with vision resulting from considered highly accurate for FSHD, even this, but it should be monitored by an though no specific gene has been identi- eye doctor. For reasons that aren’t clear, fied as being associated with the disorder. the problem is generally more common In people who have a family history of in infantile-onset FSHD. The origin of the the disease and are showing signs of it, retinal problem isn’t well understood in a DNA test is generally all that need be either form of the disease. done to confirm whether FSHD is likely to Cardiac and respiratory function develop. (See “Does it Run in the Family?” page 9.) As you become involved with the mus- cular dystrophy community, you may In many cases, however, people with no hear about severe cardiac or respiratory family history are suspected of having involvement, which is common in certain either FSHD or some other neuromuscular types of muscular dystrophy. Although disorder. In these situations, less expen- cardiac involvement can sometimes be sive and less specific tests than the FSHD a factor in FSHD, it’s rarely severe and DNA test may be done first. is often discovered only with specialized testing. Some experts have recently rec- One test is a level. This Heart function should be checked in ommended monitoring of cardiac function test, also performed on a blood sample, FSHD. in those with FSHD. measures the amount of an enzyme known as creatine kinase in the blood. Similarly, breathing difficulties from weak- When muscle cells break down, as they do ened respiratory muscles aren’t as com- in muscular dystrophies and some other mon in FSHD as they are in some other disorders, the creatine kinase, or CK, level forms of muscular dystrophy. Testing of is elevated. Creatine kinase was formerly pulmonary function at intervals may be called creatine phosphokinase, or CPK. recommended for some patients. Another type of diagnostic test is the What’s not affected? electromyogram, or EMG. This test, which is somewhat uncomfortable, involves put- specialists at As you read medical literature or talk with the MDA clinics are experienced in diag- ting very fine needles a short way into nosing FSHD. families with muscular dystrophy, you the muscles and measuring the electrical may hear about learning disabilities or activity in the muscles. other mental impairments. These don’t occur in FSHD. A nerve conduction velocity, or NCV, test may also be done. This involves measur- You also may hear of people with spinal ing how fast signals travel from one part cord injuries or other disorders of the of a nerve to another. The nerve signals who experience loss of are measured with surface electrodes sensation, inability to control their bladder (similar to those used for an electrocar- and bowels, or sexual difficulties. These diogram), and the test is only slightly problems are likewise not associated with uncomfortable. FSHD.

6 FSH • ©2009 MDA Another diagnostic procedure sometimes Are there medical undertaken is the . In treatments for FSHD? this procedure, a small piece of muscle is taken, usually from the arm or leg. Unfortunately, these are relatively few, and Doctors can tell a lot from a biopsy sam- none are specific to the disease. There’s ple, which can be subjected to many types no treatment that can halt or reverse the of biochemical tests to reveal cellular and effects of the disease, but there are treat- molecular abnormalities that suggest cer- ments and devices to help alleviate many tain muscle disorders and rule out others. of the symptoms.

Muscle biopsies are less often performed Anti-inflammatory drugs known as nonste- today than in the past, especially when roidal anti-inflammatories, or NSAIDs, are there’s a DNA test for the disease the doc- often prescribed to improve comfort and tor suspects is causing the symptoms — mobility. These are the same drugs taken as there is for FSHD. Muscle biopsy by many people with arthritis and other samples, however, are desperately needed inflammatory conditions. to understand the relationship between the DNA results and what actually happens The experimental drug MYO-029 is inside the muscle. being tested in FSHD and other MDs. It’s designed to block a natural protein that Today’s muscle biopsy procedure involves limits muscle growth. Lower leg braces keep feet from flopping a minimum of discomfort or inconve- down and tripping the person trying to nience and is usually performed under Surgical and mechanical help walk. local anesthesia. If your MDA clinic physi- Surgical procedures to stabilize the shoul- cian asks you to have a muscle biopsy for der blades (scapulae) by attaching them research purposes, you’re certainly under to the ribs have helped some people with no obligation to have one, but it will speed FSHD. Left scapula the research to find treatments for FSHD In this procedure, the scapulae are fixed if you do! to the ribs so that they don’t move. The Is FSHD ever confused with patient gains some leverage with the other disorders? arm on the side that’s had the operation, FSHD can be confused with polymyositis since the scapulae no longer slide around. Ribs (see page 5), which is neither a genetic Although this type of surgery may actu- disease nor a muscular dystrophy. It can ally decrease the arm’s range of motion Left arm also be confused with certain conditions (since the shoulder blade can no longer People with FSHD who have at least one of the nervous system that aren’t muscle rotate normally), the ability of the arm to strong deltoid muscle (at the top of the function may be better, since the arm’s arm) may choose to have a surgical pro- disorders. cedure in which the scapula (shoulder leverage point is now stable. It’s important blade) is tethered to the back of the rib Seeing a neurologist who specializes in to go to a surgeon who fully understands cage, allowing the deltoid the leverage it needs to lift the arm. neuromuscular disorders at an MDA clinic FSHD and has had experience with this or major medical center, and agreeing to a exact type of surgery. full assortment of diagnostic procedures, will increase the possibility of an accurate Physical therapists often recommend diagnosis. devices such as back supports, corsets, girdles and special bras for people with Diagnoses made many years ago (for FSHD. These supports help to compensate example, in older family members) may for weakening muscles in the upper and be worth revisiting. Many DNA tests and lower back. other diagnostic approaches became avail- able during the 1990s.

7 FSH • ©2009 MDA Lower leg braces, known as ankle-foot Diet orthoses, or AFOs, can compensate for There’s no specific diet known to help in weakening muscles in the lower leg that FSHD or any other muscular dystrophy. cause tripping and falling. These may be recommended by the physician or physical Consult with your MDA clinic doctor about therapist and can be purchased as off-the- specific dietary recommendations for you shelf or custom-made models. Some peo- and for advice on dietary supplements. ple find a lightweight, high-top shoe can be Some doctors recommend the dietary as helpful as an AFO in supporting the foot, supplement creatine for people with mus- at least in the early stages of weakness. cle disorders, but it should be taken with care and under medical supervision. 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 Massage and can ben- strength more effectively. efit people with FSHD. Massage or warm, moist heat (for example, from hot packs you can put in a microwave) are also good for the discom- fort associated with FSHD. Exercise Since the precise underlying defect that causes muscle loss in FSHD isn’t yet understood, it’s hard to make precise rec- ommendations 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 A corset-style back support worn under cause muscle cramping, significant mus- clothes can help keep the shoulders and cle pain or extreme fatigue. An exercise lower back in better alignment. program for someone with FSHD should be directed by a professional, such as a physical or occupational therapist, who has experience with neuromuscular dis- orders. The program should emphasize exercising muscles that are still relatively strong and resting those that have weak- ened. This can be accomplished with care- ful positioning and adaptation of standard exercise regimens.

8 FSH • ©2009 MDA Does it Run in the Family? SHD certainly can “run in families.” In Fthis condition, a small section of the DNA on chromosome 4 that’s shorter than usual is inherited in an autosomal domi- nant pattern, meaning it only takes one such mutation (from one parent) to cause the disorder. This altered piece of DNA can also 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 .

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, but not all, sperm or egg cells in a parent carry a It only takes one mutation particular mutation. (from one parent) to cause the disorder. 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 car- rying the FSHD mutation. In these situa- tions, the parents have no symptoms, and, if their blood cells are tested, they don’t show the mutation.

More information can be found in MDA’s booklet, “Facts About 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.

9 FSH • ©2009 MDA MDA’s Search for Treatments and Cures he MDA Web site is constantly updated In 2002, MDA-funded scientists found Twith the latest information about the that the shortened DNA segment on chro- neuromuscular diseases in its program. mosome 4 may eliminate a site where See the latest research news at www.mda. a molecular braking system normally org/whatsnew. “lands” and keeps certain from being inappropriately turned on. Researchers supported by MDA have con- tributed to a better understanding of the In 2009, MDA-supported researchers molecular basis of FSHD, and they’re now found that pieces of a gene called DUX4 applying what’s been learned to the search are abnormally activated in FSHD-affected for treatments. cells, leading to production of potentially toxic proteins. In 1990, the genetic defect that underlies the disease was located on chromosome Reinstating the normal braking system 4. Many investigators assumed that one or using some other method to block the gene would be found that, when flawed, erroneously activated genes or the pro- would lead to the development of the teins made from them seems a likely path- symptoms recognized clinically as FSHD. way for the eventual treatment of FSHD.

Mutations in the gene on the There may be additional factors involved X chromosome had recently been dis- in FSHD as well. The shortened stretch covered to underlie Duchenne and Becker of DNA on chromosome 4 may, some muscular dystrophies, and it was believed experts say, may change the shape of the that FSHD genetics would be similar. chromosome and affect its interactions with distant genes or with an envelope This, however, wasn’t to be the case. No that surrounds each cell nucleus. genes were found in the region of chro- mosome 4 which is known to be short- ened 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 impor- tant 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 exam- ple, a from a bone cell.

10 FSH • ©2009 MDA MDA is Here to Help You

he Muscular Dystrophy Association Everyone registered with MDA automati- Toffers a vast array of services to help cally receives Quest, MDA’s award-win- you and your family deal with FSHD. ning quarterly magazine. Quest publishes The staff at your local MDA office is detailed articles about research findings, there to assist you in many ways. The medical and day-to-day care, helpful Association’s services include: products and devices, social and family issues, and much more. Other MDA pub- • nationwide network of clinics staffed by lications can be found at www.mda.org/ top neuromuscular disease specialists publications; many booklets are available • MDA summer camps for kids with neu- in Spanish. Ask your local office for “MDA romuscular diseases Services for the Individual, Family and Community” and for help with obtaining • help with obtaining durable medical copies of other publications. equipment through its national equip- ment loan program If you have any questions about FSHD, someone at MDA will help you find the • financial assistance with repairs to all answer. To reach your local MDA office, types of durable medical equipment call (800) 572-1717.

• annual occupational, physical, respira- tory and speech therapy consultations

• annual flu shots

• support groups for those affected, On the cover: spouses, parents or other caregivers Barbara Williams of Clackamas, Ore., first had FSHD symptoms in childhood. • online support services through the Recent surgery has given her less pain and better use of her right arm. e-community myMDA and through myMuscleTeam, a program that helps recruit and coordinate in-home help

MDA’s public health education program helps you stay abreast of research news, medical findings and information through magazines, publications, edu- cational speakers, seminars, videos and newsletters.

MDA’s Web site at www.mda.org contains thousands of pages of valuable informa- tion, including disease specifics, research findings, clinical trials and past magazine articles.

11 FSH • ©2009 MDA MDA’s Purpose and Programs he Muscular Dystrophy Association Metabolic Diseases of Muscle Tfights neuromuscular diseases through Phosphorylase deficiency (McArdle disease) an unparalleled worldwide research effort. Acid maltase deficiency (Pompe disease) The following diseases are included in Phosphofructokinase deficiency MDA’s program: (Tarui disease) Debrancher enzyme deficiency Muscular Dystrophies (Cori or Forbes disease) (Steinert disease) Mitochondrial Duchenne muscular dystrophy Carnitine deficiency Becker muscular dystrophy Carnitine palmityl transferase deficiency Limb-girdle muscular dystrophy Phosphoglycerate kinase deficiency Facioscapulohumeral muscular dystrophy Phosphoglycerate mutase deficiency Congenital muscular dystrophy Lactate dehydrogenase deficiency Oculopharyngeal muscular dystrophy Myoadenylate deaminase deficiency Distal muscular dystrophy Emery-Dreifuss muscular dystrophy Due to Endocrine Abnormalities Motor Neuron Diseases Hyperthyroid myopathy Amyotrophic lateral sclerosis (ALS) Hypothyroid myopathy Infantile progressive spinal muscular Other Myopathies (Type 1, Werdnig-Hoffmann disease) congenita Intermediate spinal muscular atrophy (Type 2) Juvenile spinal muscular atrophy (Type 3, Kugelberg-Welander disease) Myotubular myopathy Adult spinal muscular atrophy (Type 4) Periodic Spinal-bulbar muscular atrophy (Kennedy disease) Inflammatory Myopathies Polymyositis Inclusion-body myositis Diseases of MDA’s Web site is constantly Lambert-Eaton (myasthenic) syndrome updated with the latest information Congenital myasthenic syndromes about the diseases in its program. Diseases of Peripheral Nerve Go to www.mda.org. Charcot-Marie-Tooth disease Friedreich’s ataxia Jerry Lewis, National Chairman Dejerine-Sottas disease www.mda.org • (800) 572-1717

©2009, Muscular Dystrophy Association Inc.

12 FSH • ©2009 MDA