What Do You Know About MS?

mdy“When I was little,” Chuck said, “I noticed I couldn’t run as well as the other kids. I tried, but I couldn’t keep up.” Eventually, Chuck learned why. He has muscular dystrophy, a progressive muscle weakening.

Muscular dystrophy (MD) is a group of nine neuromuscular diseases. This means it is related both to the nervous system and to the muscles. About 250,000 people in the United States have muscular dystrophy.

The most common is called myotonic dystrophy, also known as Steinert’s disease. It affects both children and adults and progresses slowly from the first signs of weakness to marked deficiency.

The most common muscular dystrophy affecting children is a severe form called Duchenne dystrophy. Usually diagnosed before age 5, Duchenne affects mostly boys. A child with this disorder is often described as especially clumsy and slow to crawl and walk.

Muscular dystrophy is genetic. It is inherited just like height and eye color. Scientists now know that a defective gene causes each type of muscular dystrophy. In some cases, if either parent carries a gene for muscular dystrophy, their child may develop it. Their child could also become a carrier. With some types of muscular dystrophy, however, both parents must pass along the defective gene.

How Is MD Diagnosed?

Doctors routinely check children for muscle strength. When physicians suspect muscular dystrophy, they do specific tests to confirm it. Urine tests can show abnormal muscle metabolism but can’t be used to diagnose a specific disorder like muscular dystrophy.

As muscles deteriorate in muscular dystrophy, muscle proteins leak out of the muscles and into the blood. (In normal muscles, the protein stays in the muscle.) By testing blood for the protein, muscular dystrophy may be detected, sometimes before weakness is noticeable.

Doctors may also perform an electromyogram (electro-, electrical; myo-, muscle; -gram, written record). Diseased muscle creates a tracing much different from that of a normal muscle.

Finally, doctors may surgically remove a piece of muscle. This is called a biopsy. The cells are sent to the pathology lab for diagnosis and interpretation. By analyzing the muscle cells, doctors can determine the type of muscular dystrophy present. Knowing the specific kind helps them predict the disease’s progress.

How Does MD Progress?

The degree and speed of muscle weakening a patient experiences depend on the type of muscular dystrophy.

With Duchenne dystrophy, the usual childhood form and the kind Chuck has, the muscles weaken sporadically. People with Duchenne may feel no change for several months or longer, then suddenly become noticeably weaker. Generally, though, they require leg braces before kindergarten and wheelchairs by the teen years.

In myotonic dystrophy, the muscles weaken slowly. The first symptoms usually appear between ages 20 and 40 and progress for many years. Severe deterioration can occur late in life.

Other forms progress in between.

Special Camps

All across the country, children with muscular dystrophy can go to a summer camp sponsored by the Muscular Dystrophy Association. One way you can help is to become a volunteer at an MD camp. As a volunteer, you may even develop a friendship. That’s where Chuck met his best friend, Terry, a volunteer camp counselor.

Chuck and Terry go to concerts, watch football games, and go to the park. Often, though, they just sit and talk about their common interests.

When you first meet someone with muscular dystrophy, you might be very aware of the muscle weakness. Soon, though, you hardly notice it.

| November 8th, 2015 | Posted in Uncategorized |

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