Duchenne muscular dystrophy (DMD) 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, lungs, and skeletal bones. On average, young men with Duchenne typically live only into their twenties.
Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random and spontaneous mutation. In other words, it can affect anyone. Over time, boys with the disease stop walking. They stop moving. They stop breathing. Currently, there are no good medical treatments, and only corticosteroids have been shown to slow the progression, although only temporarily and not without serious complications (including the stunting of growth, weakened bones, and behavioral issues). There is no cure for Duchenne MD -- yet.
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 MD and may start as early as age 8.
Typically, boys with Duchenne lose their ability to walk between the ages of 10 and 14. By their late teens, boys lose the strength in their upper bodies, including the ability to move their arms. Also during their teenage years, boys with Duchenne usually need help with breathing at night. Over time, their respiratory systems weaken, and they require constant support.
Research is at the heart of advances in treatment and care for Duchenne muscular dystrophy. In the link below, you will find basic information about various research strategies and a comprehensive listing of what research is currently being funded, as well as recent and archived research findings.
Some of the material here may seem daunting at first, but it will increase your understanding of the disorder, and what is at stake as scientists search for treatments that will ultimately END Duchenne.
Click on Research for more information on current research.