Duchenne Muscular Dystrophy: Affected Locations, Signs & Treatments

Duchenne Muscular Dystrophy: Affected Locations, Signs & Treatments
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  • 0:07 When Being Bigger Is…
  • 0:31 What Is Duchenne…
  • 2:07 Why Does Duchenne…
  • 2:59 Clinical Signs and Symptoms
  • 4:33 Lesson Summary
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Lesson Transcript
Instructor: Artem Cheprasov
Duchenne muscular dystrophy is a devastating form of muscular dystrophy that affects one in 3,600 boys. This lesson explores the reason Duchenne muscular dystrophy occurs, as well as its diagnosis, treatment, and patient prognosis.

When Being Bigger Is Not Better

In some people's minds, bigger is always better. A yacht one foot longer than your neighbor's means you are superior to them; a Hummer means you can push people around on the road; and a big house in the Hamptons means you can be as rude to anyone as you want to be. But, being really big can actually be a bad thing as this lesson on an important muscular disease will show you.

What Is Duchenne Muscular Dystrophy?

This condition affects one in about 3,600 male infants. It is called Duchenne muscular dystrophy, an X-linked recessive disease that results in quickly worsening muscular weakness. As you can tell, this disease is linked to the X chromosome and is therefore a genetic condition. The reason this ties in with my introduction is because the mutation that causes this form of muscular dystrophy to occur affects the largest gene in the entire human genome. So, being really big isn't very good after all, since the bigger you are, the more chances there are that something, like a mutation, may occur.

Furthermore, males are more predisposed to developing this condition far more so than females. The reason for this is because males have a copy of the X chromosome that's inherited from their mother and a copy of the Y chromosome that's inherited from their father. In contrast, girls have two X chromosomes, one from each parent.

Because this is an X-linked disorder, males who have a mutation in their X chromosome that leads to Duchenne muscular dystrophy don't have a back-up copy of a normal X chromosome like girls do, and therefore will develop DMD, or Duchenne muscular dystrophy. However, it has been shown that in a minority of cases, some girls, especially if the second X chromosome is damaged, will also have some symptoms of DMD, just like boys.

Why Does Duchenne Muscular Dystrophy Occur?

The gene that is affected in this condition is called the dystrophin gene. Dystrophin is a protein responsible for linking together a muscle cell's cytoskeleton to the extracellular matrix. In more simple terms, this protein links the cell's internal structural framework, the cytoskeleton, to the structural framework outside of the cell, the extracellular matrix. It's like a bolt that links the steel framework of a bridge's suspension to the mainland in order to stabilize it.

Well, if that bolt suffers a defect and snaps, then the bridge can't be stabilized very well and will malfunction. The same thing happens in this condition. If the dystrophin proteins cannot work properly, the muscle cells become leaky and damaged, resulting in their own malfunction and death.

Clinical Signs and Symptoms

This breakdown results in the typical signs and symptoms of Duchenne muscular dystrophy, such as:

  • Fatigue
  • Muscle weakness
  • Inability to walk normally or run
  • Cardiac abnormalities
  • Scoliosis, which is a sideways curvature of the spine
  • Pseudohypertrophy - a condition affecting the calves, buttocks, and shoulders in people with Duchenne muscular dystrophy as a result of fat and connective tissue replacing dead muscle cells

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