Muscular Dystrophy (Myotonic)

Myotonic Muscular Dystrophy

What is muscular dystrophy? — Muscular dystrophy is the term doctors use for a group of disorders that all cause muscle weakness. These disorders run in families. Some types of muscular dystrophy affect mostly boys. Other types affect both boys and girls.
The symptoms of most types of muscular dystrophy start in childhood. But other types start in adulthood.
What are the symptoms of muscular dystrophy? — The symptoms of muscular dystrophy differ depending on what type you have. The table lists the most common types of muscular dystrophy and the symptoms they cause (table 1).
Is there a test for muscular dystrophy? — Yes. To check for muscular dystrophy, the doctor might order:
Blood or other kinds of tests to check for the abnormal genes that cause muscular dystrophy
Blood tests to check for proteins that get released when muscles are damaged
A test called "electromyography," or "EMG." For this test, the doctor inserts tiny needles into a muscle and passes a gentle electrical current.
A muscle biopsy, which means that the doctor takes a tiny chunk of muscle. That way he or she can look at the muscle cells under a microscope and see if the cells look normal.
How is muscular dystrophy treated? — Often there are no good treatments for muscular dystrophy. But some types of muscular dystrophy can be treated with medicines called steroids. (These are not the same as the steroids some athletes take illegally. These steroids reduce inflammation.) Physical therapy and gentle exercise can be useful for some patients. In addition, braces, wheelchairs, and other devices can help with some of the problems caused by muscular dystrophy.
A drug called eteplirsen is available in the United States, and another drug called ataluren is available in some European countries. But these drugs don't work for everyone with muscular dystrophy. They might help to increase the muscle protein that is missing in people with Duchenne muscular dystrophy. But doctors don't know if they actually help the muscles work better. Also, they can be used only for a small number of people who have certain kinds of abnormal genes that cause Duchenne muscular dystrophy.
Some types of muscular dystrophy can cause problems with the heart, lungs, and other organs. For this reason, children who have muscular dystrophy often need to be checked for these problems as they get older. Ask your doctor whether you or your child needs to be checked for any problems over time.
What if I want to have children? — If you or any of your close relatives have muscular dystrophy, ask your doctor or nurse whether you could pass it on to your children. Women can pass on the disorder even if they have no symptoms.
If you or your partner gets pregnant, it might be possible to have tests before the baby is born to find out if the baby has the disorder.
What will my life be like? — Many people with the muscular dystrophy live fairly long lives. But their physical abilities are often limited. Some types of muscular dystrophy can shorten a person's life. If you or your child has muscular dystrophy, ask your doctor about what to expect.
All topics are updated as new evidence becomes available and our peer review process is complete.
This topic retrieved from UpToDate on: Mar 30, 2020.
Topic 15489 Version 5.0
Release: 28.2.2 - C28.105
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