Duchenne Muscular Dystrophy (DMD)

A degenerative disease of the muscles for which there is no treatment

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

The cause of  Duchenne Muscular Dystrophy (DMD): A genetic mutation

The simplest way to explain the disorder is that a genetic mutation (i.e., a genetic defect) affects the gene responsible for the production of dystrophin. This genetic defect prevents the gene from synthesizing dystrophin.

The consequence of Duchenne Muscular Dystrophy (DMD): Dystrophin deficiency

Dystrophin plays an essential role in maintaining the integrity of muscle cells. Because of the genetic mutation they harbour, people afflicted with Duchenne muscular dystrophy (DMD) lack dystrophin in their system. In the absence of dystrophin, muscles degenerate and become atrophied.

The effects of Duchenne Muscular Dystrophy (DMD): Gradual loss of the ability to use one’s muscles

The disorder causes muscles to degenerate and atrophy: one by one, all muscles in the body gradually fall prey to the disease. The fate of our child, Anakin, will be a gradual loss of his ability to walk. Around the age of 10, playing baseball, running and walking will be only memories for him, and he’ll be confined to a wheelchair. Throughout this time, he will be aware of this degradation process.

A few years later, during preadolescence, it is quite possible that even the ability to take a deep breath will be a thing of the past since the disease ultimately causes respiratory failure. Of course, DMD does not spare the heart (also a muscle) either… Without treatment, the normal evolution of the disease inevitably brings about premature death between the ages of 18 and 25, sometimes earlier. For families, there is no worse sentence than to helplessly watch their child suffer…

 

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