Duchenne Muscular Dystrophy: Ryan's Story
How to Diagnose Muscular Dystrophy
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.
Watching for Symptoms
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.
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.
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.
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.
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.
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.
Visiting the Doctor
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.
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.
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.
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.
Using Diagnostic Tests
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.
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.
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.
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.
Be prepared for DNA tests and bloodwork.These tests can help confirm the diagnosis and determine which kind of MD you have.
- 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.
- There are 9 types of Muscular Dystrophy; Myotonic (also called MDD or Steinerts), Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal and Emery-Dreifuss.
Video: Muscular Dystrophies in Adolescents -- Mayo Clinic
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