Read about different types of this progressive disease that interferes with the creation of new muscle, as well as treatments to help with symptoms.
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys. Other types don't surface until adulthood.
There's no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.
The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.
This is the most common form. Although girls can be carriers and mildly affected, it's much more common in boys.
Signs and symptoms, which typically appear in early childhood, might include:
Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but might not occur until the mid-20s or later.
Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include:
Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child.
Certain genes are involved in making proteins that protect muscle fibers. Muscular dystrophy occurs when one of these genes is defective.
Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.
Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.
The complications of progressive muscle weakness include:
Your doctor is likely to start with a medical history and physical examination.
After that, your doctor might recommend:
Although there's no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing.
People with muscular dystrophy should be monitored throughout their lives. Their care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists.
Some people might also need a lung specialist (pulmonologist), a heart specialist (cardiologist, a sleep specialist, a specialist in the endocrine system (endocrinologist), an orthopedic surgeon and other specialists.
Treatment options include medications, physical and occupational therapy, and surgical and other procedures. Ongoing assessments of walking, swallowing, breathing and hand function enable the treatment team to adjust treatments as the disease progresses.
Your doctor might recommend:
Newer drugs include eteplirsen (Exondys 51), the first medication to be approved by the Food and Drug Administration (FDA) specifically to treat some people with Duchenne muscular dystrophy. It was conditionally approved in 2016.
In 2019, the FDA approved golodirsen (Vyondys 53) for treatment of some people with Duchenne dystrophy who have a certain genetic mutation.
Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:
Surgery might be needed to correct contractures or a spinal curvature that could eventually make breathing more difficult. Heart function may be improved with a pacemaker or other cardiac device.
Respiratory infections can become a problem in muscular dystrophy. So, it's important to be vaccinated for pneumonia and to keep up to date with influenza shots. Try to avoid contact with children or adults who have an obvious infection.
A diagnosis of muscular dystrophy can be extremely challenging. To help you cope, find someone to talk with. You might feel comfortable discussing your feelings with a friend or family member, or you might prefer meeting with a formal support group.
If your child has muscular dystrophy, ask your doctor about ways to discuss this progressive condition with your child.
You might be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.
Don't hesitate to ask other questions during your appointment.
Your doctor is likely to ask you questions, such as: