ABOUT DMD (Duchenne Muscular Dystrophy)

 Duchenne Muscular Dystrophy is a genetic, muscle-wasting disease affecting about one in every 5,000 boys. Because the Duchenne gene is found on the X-chromosome, it primarily affects males. Females can be diagnosed with Duchenne but it is very rare. Mothers can be carriers but approximately 1 out of 3 times it occurs due to a spontaneous mutation. Duchenne affects skeletal, heart, and lung muscles. Muscle loss is typically first noticed during childhood in the hips, thighs, shoulders, and pelvis. The arms, lower legs, and trunk are typically affected by the early teen years. By that time a wheelchair is usually needed full-time, although the age for loss of ambulation varies. Eventually, without treatment, heart function and breathing are affected because there is an absence of dystrophin in the muscles of the heart and lungs.  Duchenne is caused by a mutation (a change) in the gene that encodes for a protein called dystrophin. Without enough dystrophin, muscles are not able to function or repair themselves properly.