Duchenne Muscular Dystrophy

English Links:
www.parentprojectmd.org

Dutch Links:
www.duchenne.nl
www.vsn.nl

All forms of Muscular Dystrophy are considered rare, but Duchenne Muscular Dystrophy is perhaps the most common of the Muscular Dystrophies in existence. Since it was first identified in the 1860's, Duchenne MD affects approximately 1 boy in every 3,000.

Who gets Duchenne MD Duchenne MD is not specific to any one group. All ethnic groups are equally susceptible to both Duchenne and Becker MD. But what often sets these two Muscular Dystrophies apart is that they occur mainly in boys (with very few exceptions), making it a sex-linked disorder.

Because boys have one X-chromosome and one Y-chromosome, and girls have two X-chromosomes, boys are always at a greater risk of inheriting disorders caused by damaged genes on the X-chromosome. To put it simply, if something is wrong with a gene on a boy's X-chromosome, his body has no other way to recreate a fully functional version of that damaged gene. Girls are fortunate to have an "extra" X-chromosome to fall back on if one of their genes are damaged.

What causes Duchenne MD Within our gene makeup, there is an important muscle protein called 'dystrophin' which is one of the largest genes found to date. Dystrophin acts as the glue that holds muscles together by maintaining the structure of muscle cells. Dystrophin is also believed to carry signals between the inside and outside of muscle fibers. Without dystrophin, muscles are not able to operate properly and will eventually suffer progressive damage.

The dystrophin gene is carried on the X-chromosome. Boys are therefore more susceptible to dystrophin damage because they have only one X-chromosome. When a boy is diagnosed with Duchenne MD, his body is not able to produce any dystrophin. In Becker MD, a distorted, over-sized version of dystrophin is generated. In either disorder, muscle cells within the body gradually weaken and eventually die, without fully functional dystrophin.

Early Phase (diagnosis through age 7)
Once a boy is diagnosed with DMD, it is often quite difficult to accept or believe that there is anything wrong with him. The onset of physical symptoms may be tough to recognize. Often times he will appear to be improving on the outside while his muscles are deteriorating on the inside. It is during this early phase that the calves may seem overdeveloped. He may appear clumsy and fall a lot. Jumping from a standing position may become near impossible.

Transitional Phase (6-12 years)
Between the ages of 6 and 12, DMD has usually been diagnosed. The child will likely have trouble walking, mostly because his quadriceps (muscles in the front of the thighs) have grown weaker. This tends to keep him off balance as he attempts to shift his weight and walk. He may walk on the balls of his feet or on his toes with a slight, rolling gait. In order to compensate for a feeling of falling forward, young men with DMD will stick their bellies out and throw their shoulders back to keep their balance as they walk.
When asked to get up off of the floor, he will often put his rear end up in the air first and then "walk" his arms up his legs with his hands until he is standing; using his arms for supports. The medical term for this is 'Gowers' Maneuver.'

Loss of ambulation (8-14 years)
By about 12 years old, he will likely need a wheelchair for at least part of the time as mobility becomes more difficult. His weakened muscles will cause him to tire easily. In most cases teen years are when the most significant loss of skeletal muscle strength takes place. It is at this point that activities involving the arms, legs, or trunk of the body will require assistance or mechanical support. Most young men will retain the use of their fingers through this phase so they can generally still write and use a computer.

Adult Stage (15+ years)
During the teen years, in addition to skeletal muscle problems, young men with DMD will often develop heart muscle problems. Heart complications become the main threat to both health and life due to damage and loss of respiratory muscle. The muscle layer of the heart (called 'myocardium') begins to deteriorate, much like the skeletal muscles do. This puts the young men at risk of a heart attack. Major symptoms of myocardium include: shortness of breath, fluid in the lungs, or swelling in the feet and lower legs (caused by fluid retention).
When symptoms of DMD are managed conventionally, young men with the disorder usually die from respiratory failure before they turn 25. It has been estimated that anywhere from 9% to 50% of those with DMD die from cardiac failure.