6 Things You Should Know About DMD

Kristin Meader, Editor in Chief

Gus Week is one of the best weeks to be a part of Souhegan High School. It is a time where one can really see the Souhegan community come together and fight to help one of their own. Everyone knows that this week is for Gus Dreher, a little boy who was diagnosed with Duchenne Muscular Dystrophy (DMD)  several years ago, but many of people do not know a lot about the disease that the Souhegan community is fighting to cure. If you are one of those people here are six things that you should know about DMD:

DMD is caused by a genetic mutation.

DMD is caused when a protein called dystrophin is not produced. Dystrophin is a protein that helps maintain muscle cell structure, so without it,  muscles are unable to operate properly. This causes a fatal rapid muscle deterioration in those affected by DMD

DMD is diagnosed during childhood.

The symptoms of DMD start at a very young age. It can be diagnosed as young as infancy as a parent begins to notice a child moving more slowly or struggling. From there, it can be diagnosed with muscle biopsies, genetic testing, clinical findings, or family history. The symptoms of DMD move very rapidly and the life expectancy of a child with DMD is in either the late twenties or early thirties.

One does not need to have a family history of DMD to be diagnosed.

While it is true that the majority of DMD cases are passed down genetically from mother to son, 35% of DMD cases are caused by random mutations. This means that DMD can affect any family, with no warning.

DMD is much more common with boys than with girls.

DMD is passed down to a child through the X-chromosome. Girls have two X-chromosomes, so when one of the has the gene for DMD the other can counteract it (it is possible for both of a girl’s X-chromosomes to have the gene for DMD but it is extremely rare). Boys, however, have an X and a Y chromosome, so if the X chromosome has the DMD gene there is nothing to counteract the affected X-chromosome.

It is more common than one might think.

1 in every 3,500 boys are born with Duchenne, and there are currently 300,000 known people living with DMD in the world. This makes DMD the most common fatal genetic disorder diagnosed in childhood.

There is a lot of research being done to fight the effects of DMD.

There have been tremendous amounts of research done in the past several years regarding DMD. This has lead to many leads to therapies and ways to reduce the severity of the disease. There are many clinical trials for DMD patients today, and with all the research there will be even more to come in the next few years. With all of these trials, many people living with DMD have been living into their thirties, forties, and a few have lived to their fifties!