Duchenne Muscular Dystrophy Essay

Duchenne muscular dystrophy

What is Duchenne muscular dystrophy?

Wendy Lee

Ms. Wainman

Biology A

21 May 2014

Contents

I. Introduction

A. Importance of the Case

II. Body

A. Duchenne muscular dystrophy

1. Characteristic

2. Actual Mutation

3. Location

4. Clinical Signs

5. Diagnosis

6. Prognosis

7. Treatment

8. Current Research

III. Conclusion

[Bibliography]

I. Introduction

A. Importance of the Case

Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.

II. Body

A. Duchenne muscular dystriphy

1. Characteristic

Duchenne muscular dystrophy is a physical impairment which causes the loose of the muscle and the weak bone.

2. Actual Mutation

3. Location

The DMD gene is located on the short arm of the X chromosome at position 21.2. More specifically, the DMD gene is located from base pair 31,119,221 to base pair 33,339,608 on the X chromosome.

Figure 1 “Location of the DMD gene”

4. Symptoms

The symptoms usually appear before age 6. In most cases, the first visible symptom is the postponement of sitting and standing independently. The average age for walking in boys with Duchenne muscular...

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...e progression. In DMD the muscle fibres are continuously damaged when the muscles contract. This causes inflammation which further damages the muscles leading to muscle wasting and the accumulation of scar tissue (‘fibrosis’). Drugs are being researched that could improve the ability of the body to repair damaged muscle, suppress inflammation and inhibit scar tissue formation.

"Learning About Duchenne Muscular Dystrophy." Learning About Duchenne Muscular Dystrophy. National Human Genome Research Institute, 18 Apr. 2013. Web. 15 May 2014.

"DMD." - Dystrophin. U.S. National Library of Medicine, Feb. 2012. Web. 15 May 2014.

"Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 20 May 2014.

"Diagnosis Duchenne Muscular Dystrophy." Muscular Dystrophy Association. Web. 20 May 2014.