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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.

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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

As the muscle cells die more and more, most boys affected with this disease are in a wheelchair by age 12 and die from respiratory failure by their late teens. It’s a very sad disease where most people don’t live past the age of 25. The reason people with this terrible condition die from respiratory failure is because the disease affects the skeletal muscles, such as the diaphragm and the muscles in between your ribs, that function in helping you to breathe air in and out of your body.

Diagnosis and Treatment of Duchenne Muscular Dystrophy

Besides using the clinical signs as a suspicion of something being wrong, a DNA test, a muscle biopsy, and a procedure known as an EMG, or electromyography, may be used to test a person suspected of having this disease.

Unfortunately, there is absolutely no cure for this condition, and most of the treatments are symptomatic. Certain steroids can be used to slow the progression of muscle destruction. Physical therapy can help build some strength, and mobility aids, such as wheelchairs, will have to be employed.

Lesson Summary

In this lesson, we went over a condition called Duchenne muscular dystrophy, an X-linked recessive disease that results in quickly worsening muscular weakness.

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. It links the cytoskeleton to the extracellular matrix the same way a bolt links the steel framework of a bridge’s suspension to the mainland in order to stabilize it.Signs and symptoms of Duchenne muscular dystrophy include:

  • Fatigue
  • Muscle weakness
  • Inability to walk normally or run
  • Cardiac abnormalities
  • Scoliosis, which is a sideways curvature of the spine
  • Pseudohypertrophy – a condition in which fat and connective tissue replace dead muscle cells

As more and more of the muscle cells die, the people affected with this disease experience increased difficulty breathing. They are usually in a wheelchair by age 12 and die from respiratory failure by their late teens. Most people don’t live past the age of 25.

Blood tests, a muscle biopsy, and a procedure known as an EMG, or electromyography, may be used to test the muscle for suspicion of a disease process, including muscular dystrophy. Unfortunately, there’s absolutely no cure for this condition, and most of the treatments are symptomatic.

Learning Outcomes

Following this lesson, you should be able to:

  • Describe what causes Duchenne muscular dystrophy and why males are predisposed to this condition
  • Identify the gene involved in Duchenne muscular dystrophy and the gene’s function
  • List the signs and symptoms of Duchenne muscular dystrophy
  • Explain how this disease is diagnosed and what the treatment options are

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