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Taking a look at Duchenne muscular dystrophy

Duchenne muscular dystrophy—also called DMD—is one of the nine forms of muscular dystrophy. It typically is diagnosed in early childhood, between the ages of three and five, and is much more common in boys than girls. Advances in the treatment of DMD have led to an increase in life expectancy for people diagnosed with this serious genetic condition. Here are the facts you need to know.

What causes DMD?
People with DMD do not have a protein called dystrophin in their bodies. This protein is responsible for keeping muscle cells together. It is a genetic condition that occurs as the result of a mutated gene on the X chromosome.

The gene mutation that causes DMD is passed on by mothers. Women are typically carriers of the mutation but seldom experience signs of DMD themselves. In women who are DMD carriers, there is one normal X chromosome and one with the mutated gene.

What are the symptoms?
Muscle weakness is usually the first sign of DMD. It usually appears in the hips, thighs, pelvic region, and shoulders first, before progressing to other parts of the body. People with DMD often have larger-than-normal calves as well. These symptoms can appear as soon as age three.

Involuntary muscles, including the heart and lungs, are usually affected by the early teen years. Some children with DMD also exhibit the signs of learning disabilities.

What treatments are available?
DMD is a progressive condition that is not curable, but many symptoms can be managed. The treatment plan depends on which symptoms are most problematic and may include:

  • Braces and wheelchairs
  • Cardiac care
  • Respiratory care
  • Medications

Life expectancy for people with DMD has increased significantly in recent years. It is now common for people to live into their 30s, and some people live well beyond that time.

Good Samaritan Hospital provides comprehensive pediatric care to young patients with a wide range of medical conditions. If you are concerned about your child’s health or need a referral to a pediatric specialist , we’re here to help. Contact our hospital in San Jose today by calling (888) 724-2362.