DMD

(Duchenne Muscular Dystrophy)

Duchenne Muscular Dystrophy (DMD) is a fatal progressive disorder that causes loss of muscle function and independence. Occurring primarily in boys, it is also the most common life-limiting genetic disorder diagnosed during early childhood.  Young men with Duchenne typically live into their late twenties.  Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.

Common 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 (Gower Maneuver)
• 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)

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.

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.