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Facts About Facioscapulohumeral Muscular Dystrophy 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 disabilities 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 weakness 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 muscle weakness 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 respiratory system, 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 (mutation) 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 gene, 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 surgery 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 foot drop. 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.
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