Diagnosis

Your healthcare team asks about your or your child's medical history, including general health and past illnesses. A physical exam is done.

After that, the healthcare team might recommend tests. These tests are based on the type of muscular dystrophy suspected. They may include the following:

  • Enzyme tests. Damaged muscles release proteins called enzymes into the blood. These enzymes include creatine kinase. In a person who hasn't had a serious injury, high blood levels of creatine kinase suggest a muscle disease.
  • Genetic testing. Blood samples can be checked for changes in some of the genes that cause types of muscular dystrophy.
  • Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Then a lab checks this tissue sample. The lab can tell muscular dystrophies apart from other muscle diseases.
  • Tests to monitor the heart, such as electrocardiography and echocardiogram. These tests are used to check how well the heart works, especially in people who have myotonic muscular dystrophy.
  • Tests to monitor the lungs. These tests are used to check lung function.
  • Electromyography. A special needle is placed into the muscle to be tested. Electrical activity is measured as the muscle is relaxed and as it is gently tightened. Changes in the pattern of electrical activity can confirm a muscle disease. This test rarely is used to find out if Duchenne or Becker muscular dystrophy is the cause of someone's symptoms.

Treatment

No cure exists for any type of muscular dystrophy. But treatment for some types of the disease can help people:

  • Maintain muscle strength.
  • Prevent complications.
  • Stay independent and mobile longer.
  • Improve heart and lung health.

Treatments for some types of Duchenne muscular dystrophy, in particular, are quickly expanding based on research.

People with muscular dystrophy often need to be monitored throughout life by a team of healthcare professionals. A primary care doctor often helps oversee your overall medical care. Most often, the care team includes:

  • A doctor called a neurologist, who treats brain and nervous system conditions. It's key to find a neurologist who has experience treating diseases that affect how muscles work due to nerves and muscles in the body. These are called neuromuscular diseases.
  • A doctor called a physical medicine and rehabilitation physician or physiatrist, who helps people with disabilities function better, be more independent and have less pain.
  • A physical therapist, who teaches exercises to improve movement and keep muscles stronger and flexible for longer.
  • An occupational therapist, who teaches various ways to make everyday tasks easier.

Many people with muscular dystrophy also might need other doctors, including a:

  • Lung doctor called a pulmonologist, as well as a respiratory therapist who helps with breathing.
  • Heart doctor called a cardiologist.
  • Doctor whose speciality is treating sleep conditions.
  • Hormone expert called an endocrinologist to help with bone density and growth concerns.
  • Orthopedic surgeon, who treats problems with bones, joints, ligaments, tendons and muscles.
  • Doctor called a gastroenterologist, who treats problems with the stomach and intestinal tract.
  • A palliative care doctor, who cares for people living with serious illnesses.
  • A genetics doctor or counselor to help guide you about the course your muscular dystrophy likely will take.

Many people with muscular dystrophy also might need to see other specialists, such as a:

  • Speech therapist for swallowing and communication.
  • Dietitian or nutritionist, who recommends special diets when needed.
  • Social worker for support and community resources.
  • Psychologist or psychiatrist to assess and treats mood or behavior-related conditions.

Muscular dystrophy treatment includes medicines, physical and occupational therapy, equipment, surgery, and other procedures. Ongoing tests of walking, swallowing, breathing and hand function help the treatment team change treatments as needed over time.

Medicines

Your healthcare team might recommend medicines such as:

  • Corticosteroids. These medicines can help with muscle strength and slow some types of muscular dystrophy from becoming worse. Examples of corticosteroids include prednisone and deflazacort (Emflaza). Long-term use of this type of medicine can cause weight gain and weaker bones. That raises the risk of breaking a bone, also called a fracture.
  • Targeted medicines and gene therapies. These are tailored to treat some people with Duchenne muscular dystrophy who have certain confirmed gene changes. More and more treatments are becoming available based on research. These include eteplirsen (Exondys 51), golodirsen (Vyondys 53), viltolarsen (Viltepso), casimersen (Amondys 45), and delandistrogene moxeparvovec-rokl (Elevidys).

    Ask your healthcare professional what your treatment choices are. Approved targeted treatments may vary by country.

  • Heart medicines. If muscular dystrophy damages the heart muscle and causes heart symptoms, these medicines may be prescribed. They include angiotensin-converting enzyme (ACE) inhibitors and beta blockers.

Therapy

Various therapy and assistive devices can improve the quality of life in people with muscular dystrophy. They may help some people live longer too. Examples include:

  • Range-of-motion and stretching exercises. Muscular dystrophy can limit how flexible and mobile affected joints are. Range-of-motion exercises can help to keep joints as flexible as possible.
  • Exercise. Low-impact aerobic exercise can help with strength, movement and general health. Examples include walking and swimming. Some types of strengthening exercises also might be helpful. But talk to your healthcare professional before you start exercising. Some types of workouts might be harmful or unsafe to do.
  • Braces. These devices can help keep muscles and tendons stretched and flexible. This slows contractures from becoming worse. Braces also can aid movement and function by supporting weaker muscles.
  • Mobility aids. Canes, walkers and wheelchairs can help people with muscular dystrophy move around and stay independent.
  • Breathing assistance. As muscles involved in breathing become weaker, deep breathing and coughing exercises taught by a healthcare professional can help. Some people also need help breathing during sleep. A device that delivers air through a face mask may be prescribed. Other people who have serious breathing problems need to use a machine that forces air in and out of the lungs, called a ventilator.

Surgery

Surgery might be needed to fix contractures or a curve in the spine that could make breathing harder over time. Heart health may be improved with a pacemaker or other heart device.

Preventing respiratory infections

Illnesses that affect the muscles involved in breathing can become a problem with muscular dystrophy. So, it's key to be vaccinated for pneumonia. Also, keep up to date with shots that protect against the flu and COVID-19. Try to stay away from people who are sick.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.


Coping and support

Learning that you or a loved one has muscular dystrophy can be very challenging. To help cope, find someone to talk with. You might feel comfortable sharing 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 healthcare professional about ways to explain the condition to your child.


Preparing for your appointment

You might be referred to a doctor who's received extra training to find and treat muscular dystrophy.

What you can do

  • Write down your or your child's symptoms and when they began.
  • Bring photos or video recordings to show the doctor or other healthcare professionals the symptoms that concern you.
  • Write down key medical information, including other medical conditions.
  • Make a list of all medicines, vitamins and supplements you or your child takes. Include the amounts taken, called the doses.
  • Tell your healthcare professional whether anyone in your family has muscular dystrophy.

Questions to ask your or your child's doctor

  • What's the most likely cause of these symptoms?
  • What tests are needed?
  • What are the possible health problems that can happen with this condition?
  • What treatments do you recommend?
  • What is the long-term outlook?
  • Do you recommend that our family meet with a genetic counselor?

Feel free to ask other questions during your visit.

What to expect from your doctor

Your doctor or another healthcare professional is likely to ask you questions such as:

  • Are the symptoms getting worse?
  • What, if anything, relieves them?
  • What, if anything, makes them worse?
  • Do you plan on having more children?

May 17, 2025

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  5. Muscular dystrophy. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/musculardystrophy/facts.html. Accessed Aug. 18, 2023.
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  7. Duchenne muscular dystrophy (DMD). Muscular Dystrophy Association. https://www.mda.org/disease/duchenne-muscular-dystrophy. Accessed Aug. 18, 2023.
  8. Libby P, et al., eds. Neuromuscular disorders and cardiovascular disease. In: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed Aug. 18, 2023.
  9. Myotonic dystrophy (MD). Muscular Dystrophy Association. https://www.mda.org/disease/myotonic-dystrophy. Accessed Aug. 21, 2023.
  10. Congenital muscular dystrophy. American Academy of Neurology. https://www.aan.com/Guidelines/home/GuidelineDetail/683. Accessed Aug. 21, 2023.
  11. Angelini CI, et al. The role of sleep in neuromuscular disorders. Frontiers in Neurology. 2023; doi:10.3389/fneur.2023.1195302.
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  13. MDA and COVID-19. Muscular Dystrophy Association. https://www.mda.org/covid19. Accessed Aug. 22, 2023.
  14. Emery-Dreifuss muscular dystrophy (EDMD). Muscular dystrophy association. https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy/signs-and-symptoms. Accessed Sept. 8, 2023.
  15. What is facioscapulohumeral muscular dystrophy? Muscular dystrophy association. https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy. Accessed Sept. 8, 2023.
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  17. Oculopharyngeal muscular dystrophy. American Muscular Dystrophy Association. https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy. Accessed Sept. 8, 2023.
  18. Breathe easy: Respiratory care in neuromuscular disorders. https://www.mda.org/. Accessed Sept. 18, 2023.
  19. Elevidis. U.S. Food and Drug Administration. https://www.fda.gov/vaccines-blood-biologics/tissue-tissue-products/elevidys. Accessed Oct. 16, 2023.
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