Duchenne Muscular Dystrophy: The Disease and Treatment
One in 3500 boys are born with DMD. Every day, two boys will die from this genetic disorder. Every year, thousands of women will discover that they passed this gene on to their son or that they will never have children because they are carriers of this mutation.
Approximately 60% of the mutations are hereditary, but because it is random, most families don’t know of its existence. 40% of the time it occurs because of a spontanteous mutation at birth. IT CAN HAPPEN IN ANY FAMILY. The Miller family had absolutely no history of the disease.
DMD is caused when there is a mutation in the dystrophin gene which resides on the X chromosome. The X chromosome is the female chromosome, so while females can be carriers of the disorder they have another X which serves as backup and keeps their muscles functioning properly.
Boys have only one X chromosome and therefore have no dystrophin production which means that their muscles do not regenerate and therefore the muscle fibers die.
This leads to muscle wasting and eventually cardiac failure.
The prognosis has been the same for years: Wheelchair by 9-12 and life expectancy between late teens and early twenties.
Our reason for optimism…
But… there is hope!
In recent years, boys have been treated with steroids which has added a few years of walking and possibly several years of life. The steroids do have side effects. Fortunately, there is a particular steroid that minimizes these side effects but the medical community has been slow to adopt this drug because it is not sold within the USA.
Gene therapy and stem cell research have made huge advances in just the last year.
These actual cures could be any where from 5-10 years away. There is however, a new class of drugs which will not cure the disease, but will fool the body into producing dystrophin or will upregulate other proteins that could take the place of dystophin, while at the same time eliminate some of the damage that occurs in the muscle cells of DMD boys.
Although boys treated with these drugs will probably never be world class athletes, there is evidence that they could lead a relatively normal life.
These drugs could be in clinical trials in 2-3 years…if there is adequate funding NOW!
