Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that affects only boys, causing the loss of both muscle function and independence. It is the most common of the 20 muscular dystrophies and is the number one fatal genetic disorder diagnosed during childhood today. Nearly all boys with DMD die by the age of 20 from respiratory and/or cardiac complications.
The facts about DMD:
- Approximately 20,000 children worldwide, or one in every 3,500 boys, are born with DMD. A boy inherits DMD when he receives an X chromosome that fails to make the protein dystrophin, an essential building block of healthy muscle.
- Boys with DMD show signs of muscle weakness as early as age 3.
- Walking, running, or riding a bike is a challenge for a boy with DMD, as the disease gradually weakens the skeletal or voluntary muscles in the arms, legs and trunk. Nearly all boys with DMD lose the ability to walk sometime between ages 7 and 12 and require full-time use of a wheelchair.
- By the early teens or even earlier, the disease may also affect the boy’s heart and respiratory muscles.
- There is no way to stop or reverse the muscle degeneration of DMD. Accepted treatments can only lessen symptoms and improve the quality of life.
- The only significant breakthrough in DMD research was the discovery of the defective gene causing DMD – dystrophin – in 1986 at the Children’s Hospital in Boston, MA.
Dr. Brian Tseng
Dr. Tseng of the Massachusetts General Hospital Neuromuscular Clinic is Troy and Andrew’s Doctor, and is featured in the film.
Dr. Brian Tseng has been gearing up to push the frontiers of Duchenne muscular dystrophy research and clinical care for some time. His mentors in medicine, however, “encouraged me not to go down this path, telling me I couldn’t do anything for these boys, and it was a dead-end career.”
His mentors have been proved wrong. Dr. Tseng is now the director of the Jett Program for Pediatric Neuromuscular Disorders, a collaboration between the Pembroke-based Jett Foundation and Massachusetts General Hospital for Children. This is the first program in the Northeast devoted to an often-overlooked genetic disorder that causes boys to lose muscle function and independence. People with Duchenne muscular dystrophy have a life expectancy of about 20 years.
“I am thrilled to be part of this wonderful community of clinicians and families that has been created through the collaboration between the Jett Foundation and MassGeneral Hospital for Children,” said Dr. Tseng. “Although people consider me the expert, I learn as much from my patients and families as they do from me. I bring to this work an open mind, a compassionate heart and a fierce determination to do everything I can to keep my patients healthy and their families hopeful.
“The standard of care in 2008 is not good enough, so we need to push it further,” said Dr. Tseng. “What motivates all of us involved with this program is the belief that these kids and young people deserve better. They deserve care that will keep them healthier, more mobile and more independent far longer than anyone ever thought possible. They deserve to have long futures. And they deserve to have the hope of a cure some day.”
(via Jett Foundation)