How to Diagnose Muscular Dystrophy

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parts

1Watching for Symptoms

2Visiting the Doctor

3Using Diagnostic Tests

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Expert Q&A

Tips and Warnings

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References

Muscular dystrophies are a variety of conditions characterized by progressive muscle weakness and wasting of muscles that control movement, but can also affect the heart. Muscular Dystrophy (MD) is diagnosed by physical exam, family medical history, and tests such as biopsy, blood work, DNA testing and EMG. MD is usually a genetic disease, but some varieties are not. While there are many types of this condition, the symptoms and diagnostic tests are often similar. One of the main differences is when the disease presents itself. For instance, Duchenne MD presents in childhood, while Becker MD can present anywhere from ages 2-25. If you think you or your child may have MD, schedule a visit to see your doctor.

Steps

Part 1

Part 1 of 3:

Watching for Symptoms

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   Pay attention to frequent falls. Because muscular dystrophy affects the muscles, it can cause you to fall frequently. Similarly, it can cause difficulty with getting back up, or even just getting up out of bed.

   • The Duchenne variety often begins in childhood. While most kids will take tumbles, note if your child is particularly clumsy, falling several times a day, for instance.
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   Also, watch for the "Gower's maneuver," where your child stands up by first facing the floor and placing their hands on it. Then, they lift their rear into the air and walk their hands up their legs.
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   Look for problems with movement. People with muscular dystrophy can have a waddling, penguin-like walk, for instance. You might also have trouble running or jumping.

   • Kids may walk on their toes instead of on their heels. They may also stick out their stomachs and pull back their shoulders to help them stay upright.
   • You might also have trouble going upstairs, playing sports, or lifting objects you should be able to lift.
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   Notice muscle pain and stiffness. This symptom can affect a person of any age. Basically, you'll have trouble moving with fluidity because your muscles are too stiff. Also, you may experience an achiness throughout your muscles.

   • Kids may have issues lifting their arms above their heads.
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   Check for large calf muscles in kids. This symptom usually appears in toddlers. Often, the muscle actually contains a significant amount of scar tissue. However, from the outside, the calf muscles will just look abnormally large.
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   Look for learning problems in kids. Not every kid with MD will have learning problems. In fact, only about 1/3 will be affected. Those affected may have trouble focusing or have issues with memorizing and retaining information, such as having trouble remembering words.

   • They may also have slow social development.
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Part 2

Part 2 of 3:

Visiting the Doctor

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   Schedule an appointment if you notice symptoms. Whether you notice symptoms in you or your child, see the doctor as soon as you can. It's also important to go if you notice a sudden increase in one issue, such as falling or clumsiness, as that could be an indicator of this condition.

   • Make a list of symptoms to take with you. Note how frequently they happen. That way, you won't forget anything while at the doctor's office.
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   Discuss your family history with the doctor. Most forms of MD have a genetic component, so your doctor will want to know if it runs in your family. Talk to your doctor if any family members have had specific types of MD.
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   Be ready for a physical examination. Before doing anything else, the doctor is likely to check you over physically. They'll do things like listen to your heart and breathing, as well as take your blood pressure.

   • The doctor may also ask you or your child to walk so they can check out you or your child's gait.
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   Expect a blood test. The first test your doctor is likely to run is a blood test. They'll be looking for 2 types of enzymes. The first one, serum creatine kinase, indicates the muscles are deteriorating when at high levels. The second one, serum aldolase, converts sugar into energy, and when your levels of it are high, it can point to muscle weakness.

   • The blood test is also used to determine whether you are carrying the gene for a specific type of MD.
   • Before going to the doctor's office, drink extra water. It's easier for them to take blood when you're hydrated.
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Part 3

Part 3 of 3:

Using Diagnostic Tests

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   Expect a muscle biopsy. With this test, the doctor will take a small sample of muscle tissue. Typically, the doctor will use local anesthesia to numb the area, and then use a hollow needle to pull out the muscle tissue.

   • The doctor or a technician will look at the sample under a microscope and run tests to check for certain levels of proteins.
   • Under a microscope, the doctor will be looking for things like missing muscle fibers, which can indicate limb-girdle MD.
   • If your muscle doesn't have enough of the protein dystrophin, that can indicate Becker MD or Duchenne MD.
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   Be ready for an electromyography test. With this test, a needle is inserted in one of your muscles. The doctor will then run a light electrical current through your muscle. At the same time, they'll ask you to flex and relax your muscle.

   • By studying the electrical pattern, the doctor can determine if you have a disease that's affecting your muscles. This test can also help them rule out other neurological disorders.
   • The needle may be a little painful when it's inserted. The electrical charges will feel like a twinge or muscle spasm.
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   Agree to various heart- and lung-monitoring tests. The doctor uses these tests to check how these organs are functioning. With heart tests, the doctor will be listening for an irregular heartbeat to see if the heart has been damaged at all. With lung tests, the doctor will be checking function, as well as looking at how much nitric oxide you exhale.

   • For instance, the doctor may run an echocardiogram, which is where they take an ultrasound of your heart to check its movement and function.
   • Alternatively, they may take an electrocardiogram. With this test, they'll place electrodes on your chest, which are small disks that measure electricity. The doctor may have you take this test while resting or while doing exercise.
   • Lung-functioning tests typically require you to breathe in a tube.
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   Expect imaging tests. Your doctor will likely use imaging tests, such as CT scans, MRIs, and x-rays, to help provide a diagnosis. These tests provide images of the inside of your body, helping the doctor to detect damage.

   • For instance, the doctor may look for lung damage using an x-ray or use a CT scan to check for muscle damage throughout your body.
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   Be prepared for DNA tests and bloodwork. These tests can help confirm the diagnosis and determine which kind of MD you have.
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Expert Q&A

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• Question

  How is muscular dystrophy diagnosed?

  

  Kevin Stone, MD
  Board Certified Orthopaedic Surgeon

  Dr. Kevin Stone is an orthopaedic surgeon and the founder of The Stone Clinic, a leading orthopaedic surgery, sports medicine, and rehabilitation clinic in the San Francisco Bay Area. With over 30 years of experience, Dr. Stone specializes in knee, shoulder, and ankle repair, using biologic reconstruction and joint replacement. He holds a BS in Biology from Harvard University and a Doctor of Medicine (MD) from the University of North Carolina at Chapel Hill. Dr. Stone completed his residency in Internal Medicine and Orthopaedic Surgery at Harvard University and in General Surgery at Stanford University. He then completed a fellowship in Orthopaedic Research and Surgery at the Hospital for Special Surgery and Tahoe Orthopaedics. He lectures around the world as an expert in cartilage and meniscal growth, replacement, and repair and holds over 40 U.S. patents on novel inventions to improve healthcare. Dr. Stone is a physician for Smuin Ballet and has served as a physician for the U.S. Ski Team, the U.S. Pro Ski Tour, the United States Olympic Training Center, and World Pro Ski Tour.

  

  Kevin Stone, MD

  Board Certified Orthopaedic Surgeon

  Expert Answer

  It's going to be diagnosed with genetic tests these days. That's really the only way your doctor will confirm your diagnosis.

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• Question

  I cannot walk, I can sit but only on computer chair or wheelchair, otherwise I cannot get up by myself. I take help from my family members but what can I do to exercise by myself?

  

  Janice Litza, MD
  Board Certified Family Medicine Physician

  Dr. Litza is a Board Certified Family Medicine Physician based in Racine, Wisconsin. With over 25 years of educational and professional experience, she has extensive experience providing full-spectrum Family Medicine, including obstetrics, newborn care, and hospital medicine. She is currently the Residency Program Director for Family Medicine at Ascension. Dr. Litza received her MD from the University of Wisconsin-Madison School of Medicine and Public Health and has completed additional fellowship training in Integrative Medicine through the University of Arizona.

  

  Janice Litza, MD

  Board Certified Family Medicine Physician

  Expert Answer

  I would encourage you to start with very easy chair yoga, which has upper body, core, and lower body stretching and strengthening poses that are done with the extra support of the chair.

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Tips

• Each type of MD develops at a different age, so always talk to your doctor if you start noticing muscle weakness. For example, Duchenne MD presents in boys age 2-6, while Becker MD presents from ages 2-25 in males, is a milder form, and involves cardiac problems.
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• There are 9 types of Muscular Dystrophy; Myotonic (also called MDD or Steinerts), Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal and Emery-Dreifuss.
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