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Muscular dystrophy

Medically reviewed by Drugs.com. Last updated on Feb 1, 2024.

Overview

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.

Symptoms

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.

Duchenne type 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:

Becker muscular dystrophy

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.

Other types of muscular dystrophy

Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include:

When to see a doctor

Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child.

Causes

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.

Risk factors

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.

Complications

The complications of progressive muscle weakness include:

Diagnosis

Your doctor is likely to start with a medical history and physical examination.

After that, your doctor might recommend:

Treatment

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.

Medications

Your doctor might recommend:

Therapy

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

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.

Preventing respiratory infections

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.

Coping and support

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.

Preparing for your appointment

You might be referred to a doctor who specializes in the diagnosis and treatment of muscular dystrophy.

What you can do

Questions to ask your or your child's doctor

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you questions, such as:

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