Duchenne Muscular Dystrophy is a genetic disorder that robs the ability for many muscles to properly function. This condition occurs in one in every 3500 boys and has side effects that continue to progress throughout their life. This disorder is more likely to affect males than females because dystrophin has a greater chance of being absent. To further explain, Dystrophin is an important protein located primarily in muscles used for movement. When this protein is not found within the necessary protein complex, the muscles will lack muscle fibers. Dystrophin also acts as a “glue,” it’s job is to connect the framework of each muscle cell and when that job is not done the muscles grow weak and can no longer function as they are primarily meant to. Furthermore, the muscles that are affected by this absents lose their ability to function and therefore cease to work. When a young boy is diagnosed (between the ages of 1-6) with this disorder, the average age for more frequent treatments is at the age of 9 years. The muscles begin to weaken and the side effects slowly progress, beginning with the legs and easing its way to the arms and cardiac muscles.

To continue the discussion of why males are more likely to be impaired by this disorder, it is first important to understand the human body. Male chromosomes are identified by XY whereas females are XX. What this means is Dystrophin has a greater chance of being absent in one X chromosome as opposed to two. So, if Dystrophin is not present in the X chromosome of the males XY, they will inherit this disorder. However, Dystrophin would have to be absent in both X chromosomes of the females XX for the female to inherit this disorder. Because of this, it is rarer to come across a young girl that has this genetic disorder.

One way to pass this gene on within a growing family is if the mother is a carrier. What this means is – going back to the chromosomes – the female would have one normal dystrophin gene on one of the X’s however, an abnormal, absent dystrophin gene on the other. Most carriers do not show signs of the disease. In other situations, a young child with this disorder could have been a spontaneous mutation where the genetic coding did not properly align to allow the Dystrophin to settle in the muscles, instead the Dystrophin would be absent entirely. The example below quickly summarizes the passing on of Duchenne Muscular Dystrophy.

As time passes, the muscle weakness gets worse and unfortunately will reach the cardiac muscles. With research and hard studies, many genetic chemists have found treatment that have slowed down the process of many muscular dystrophies. Now, instead of the life expectancy for these boys to be uncommonly beyond their teen years, many boys are surviving into their early thirties and sometimes in their forties and fifties. These statistics continue to give hope and help researchers to thrive in hopes of finding a cure for this genetic disorder.

Hello, my name is Katie Napoli and I am a long-distance runner for Team Danny under the organization of PPMD. I am very family oriented, organized, and adventurous. Running has always been a passion of mine and my career as a runner began about six years ago. However, I first decided that I wanted to make a change about eleven years ago when my cousin Danny Garofalo, who is six months older than I am, was three years old. At this young age he was diagnosed with Duchenne Muscular Dystrophy. From then on, our relationship as cousins and best friends grew. Now, we began to build our team, Team Danny and over the course of eleven years our team has raised over $330,000. With research, my family found an organization called PPMD which stands for Parent Project Muscular Dystrophy. This organization is the largest non-profit organization in the United States that focuses on finding a cure for Duchenne Muscular Dystrophy. Their help gave us knowledge and expectations of what it is like to be a boy with Duchenne Muscular Dystrophy (DMD). We slowly realized how much we all have in common; we all have hopes to one day find a cure. We started to look at all of the possible fundraising that we could take part in with the other teams under PPMD. Now, we run every January in the Walt Disney Marathon weekend where we are proud to wear our colors. Danny's case of DMD progressed and he was wheelchair bound at the age of eight. The following year, I began running more frequently and that's when I found the motivation and the passion that I have towards running. From then on I have been a devoted runner- I am not saying that I enjoy every run but what fuels me is who and why I am running. It's all about finding the passion and drive in doing what you love.


This blog will be devoted to answering as many questions as possible and creating a clear analysis of what Duchenne Muscular Dystrophy is as well as personal running experiences, genetic information, donation information, short clips of interviews and educational videos.