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What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.
Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties.
Becker muscular dystrophy, which is less severe than Duchenne, occurs when dystrophin is manufactured, but not in the normal form or amount. Because of this disparity in the severity of the different forms of these disorders, we will refer primarily to Duchenne throughout this site.
Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
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Signs of Duchenne
If a boy has a combination of the traits listed below, he should be tested for Duchenne:
Has a hard time lifting his head or has a weak neck- Is not walking by 15 months
- Has a hard time walking, running, or climbing stairs
- Is not speaking as well as other kids his age
- Needs help getting up from the floor or walks his hands up his legs in order to stand (seeGower Maneuver, right)
- Has calves that look bigger than normal (pseudohypertophy)
- Walks with his legs apart
- Walks on his toes and waddles
- Walks with his chest pointed out (or has a sway back, saddle back, or hollow back)
Testing for Duchenne
Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. For expectant mothers, genetic studies performed during pregnancy can detect Duchenne with about 95% accuracy. Doctors may make recommendations about childbearing options.
Before testing, families should understand:
- What test is being ordered
- Why it was chosen
- How long it takes for results to come back
- What the next step might be if the test is negative
- How much the test costs, and whether it is covered by their insurance
How Duchenne Progresses
Boys with Duchenne may develop later than children of the same age—for example, speaking, sitting up, and walking. Cardiac problems eventually occur with Duchenne and may start early or during the teenage years.
Typically, boys with Duchenne lose their ability to walk between the ages of ten and fourteen. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms. Also during their teenage years, young men with Duchenne usually need help with breathing at night.
Over time, their breathing or respiratory systems weaken, and they require constant support. Young men with Duchenne typically survive into their twenties or early thirties.
While there’s currently no cure, with informed and timely treatment, boys with Duchenne can maintain their independence, walk, and live longer than ever before.
(Above information is from http://www.parentprojectmd.org/site/PageServer?pagename=Understand_about)
