Muscular Dystrophy: Observing Facioscapulohumeral Muscular Dystrophy

All the muscular dystrophies are caused by problems with the information in genes and chromosomes. A gene is a little piece of information that tells your body what to do or what to make. A chromosome is like a package or container that holds all the genes. However, different areas of the body are targeted and at different stages in life. 

Facioscapulohumeral muscular dystrophy affects the face, area of the shoulders and upper arms. It is mostly discovered during adolescence and the severity can vary in every case. The first symptoms affecting the face can be noticed when actions like whistling, smiling or even drinking with a straw is difficult to do. Also, if affected around the eyes, some cannot close their eyes fully while sleeping, causing dry eyes and other eye problems. For shoulders, the protruding shoulder blades is a key symptom. Actions such as throwing a ball or raising your arms can prove difficult if diagnosed with Facioscapulohumeral muscular dystrophy. As time progresses, the disease can worsen and begin to spread to other areas of the body.

1 in 20,000 people is diagnosed with Facioscapulohumeral muscular dystrophy. It results from a deletion of genetic material from a region of DNA known as D4Z4. The D4Z4 region normally consists of 11 to more than 100 repeated DNA segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. However, in people with Facioscapulohumeral muscular dystrophy the D4Z4 region on one copy of chromosome 4 is abnormally short, containing between 1 and 10 repeats. Therefore, it is a genetic disease inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region in each cell is sufficient to cause the disorder.

Unfortunately, there is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life and activity is encouraged. Inactivity such as bedrest can actually make the muscle disease worse. Therapy treatments such as oral albuterol to increase muscle mass (but not strength), speech therapy, and sometimes surgery to fix a winged scapula. Continuation of these treatments, along with muscle activity and exercises, allows the patient to feel less pain and also helps prevent or at least slow down the spreading. Fortunately, the disorder does not decrease a person's lifespan but it does prevent mobility.

 
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