Duchenne Muscular Distrophy

By: Shaedyn Housh

What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that effects the muscular system. It is a basic lacking or disruption of the protein dystrophin. This affects the degeneration of muscles where this protein is common, this includes the neurons in certain regions of your CNS (brain) and your skeletal muscles.

What happens to the body? What part of the body is generally affected?

The degeneration of muscular tissues is the most obviously affected part of the body. However, the affects on the CNS(brain) are just as devastating to the victim. Every 1 of 3 victims of this disease will be diagnosed with mental retardation as a result of DMD. Not many people with this disease will live to see past the age of 20. These premature deaths are usually results of cardiac (heart) failure or muscle based breathing problems (meaning they no longer would have the muscular capability to continue to expand their lungs or even to inhale).

List all of the possible effects on the body.

The effects will vary with age, but the symptoms of this disease can be shown as early as the age of three.

1. In toddlers enlarged calf muscles and clumsiness are common

2. In preschool aged children, clumsiness, trouble getting up from the floor, trouble climbing stairs or running are often symptoms

3. In older children walking on the toes or balls of their feet with a slightly waddling gait and fall frequently, and difficulty raising their arms

4. Between the ages of 7-12 the child will be in a wheel chair

5. By teenage years the inability to raise their arms, legs, or trunk without assistance. Often endure painful sensations.

6. Most children will not live past the age of 20, however as symptom management technologies improve there have been more and more recent cases of these men living into their thirties (rarely even into their 40's and 50's)

How the disorder is treated and how the disorder is diagnosed

There is no cure for this disease, however symptom management has made vast improvements over the last few years. These improvements have prolonged the life of many people that have this disease by up to 10 years. Gene therapy is still a changing and developing remedy, however scientists are making large jumps in improvement.

How many and what type of people are more likely to have this disorder?

When a female is a carrier of DMD each of her daughters has a 50% chance of becoming a carrier of the mutation, and each son has a 50% chance of receiving the mutation and having DMD. Fathers can not give their sons the disease, even if they, themselves have it, because they only give off the y chromosome and DMD is a X-linked mutation. Nonetheless he can give it to his daughter because she will inherit his only X chromosome which would have the mutation on it. No specific race or ethnicity is more at risk then another for having this disease.

Application of Research

I have learned multiple things about DMD throughout my research. How only one out of three people will suffer from mental retardation and not everyone diagnosed. I also learned that there is no cure, but simply by performing symptom management years of quality life can be added to the patients. Research is still be conducted and hopefully a cure will someday be found for this terrible disease.
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The Duchenne Timeline
Ian's story - Duchenne Muscular Dysthrophy
BrainPOP animation about Duchenne Muscular Dystrophy