About Duchenne

What is Duchenne Muscular Dystrophy?

• One in every 3,500 boys is affected by DMD.
• Girls are rarely affected but can be carriers of the disease.
• The Duchenne-causing gene is on the mother’s X chromosome in the 23rd pair.
• 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.
• 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.
• Boys affected with Duchenne are often late walkers.
• Boys afflicted with Duchenne have enlarged calf muscles, often walk on their toes and waddle slightly.
• By age 5, boys with DMD lag noticeably in most physical activities, including getting up off of the floor.
• By age 10, they will fall frequently, have trouble climbing stairs, and find it difficult to stand from a seated position.
• By age 12, most will need to use a wheelchair.
• By early teen’s, activities involving arms, legs and trunk may require assistance.
• By age 15, most require some form of non-invasive ventilation to assist with breathing while sleeping, and simple colds can easily turn into pneumonia.
• By their late teens or early twenties, they will develop serious cardiac & respiratory problems.
• There is currently no cure or treatment for this fatal disease.

History of Duchenne Muscular Dystrophy

• The first historical account of MD was reported by Conte and Gioja in 1836. They described two brothers with progressive weakness starting at age 10 years. At the time, however, many thought that Conte and Gioja described tuberculosis and they did not achieve recognition for their discovery.
• In 1868, Guillaume Duchenne was a French neurologist who gave a comprehensive account of 13 patients with the disease, which he called "paralysie musculaire pseudo-hypertrophique." Because Duchenne was already held in high esteem for his work and for his contributions to the understanding of muscle diseases, one of the most severe and classic forms of MD now bears his name.