Duchenne Muscular Dystrophy

Lucas Rodrigues B3 5-24-13

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a form of muscular dystrophy that worsens quickly. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly.

Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.

What are symptoms of Duchenne Muscular Dystrophy?

Symptoms usually appear before age 6 and may appear as early as infancy. They may include:

  • Fatigue
  • Learning difficulties (the IQ can be below 75)
  • Intellectual disability (possible, but does not get worse over time)
  • Muscle weakness

    • Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body
    • Difficulty with motor skills (running, hopping, jumping)
    • Frequent falls
    • Trouble getting up from a lying position or climbing stairs
    • Weakness quickly gets worse
  • Progressive difficulty walking

    • Ability to walk may be lost by age 12, and the child will have to use a wheelchair
    • Breathing difficulties and heart disease usually start by age 20

What is the Inheritance pattern of Duchenne Muscular Dystrophy?

Because of the way the disease is inherited, boys are affected, not girls. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.

Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

How do you treat Duchenne Muscular Dystrophy?

There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life.

Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.

However, the effects of these treatments have not been proven. Stem cells and gene therapy may be used in the future.

Activity is encouraged. Inactivity (such as bedrest) can make the muscle disease worse. Physical therapy may be helpful to maintain muscle strength and function. Speech therapy is often needed.

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