Skip to content

Diagnosis of muscular dystrophy

Muscular dystrophy (MD) refers to a group of genetic diseases that cause progressive weakness and degeneration of skeletal muscles. These disorders (of which there are more than 30) vary in age of onset, severity, and the pattern of the affected muscles.

Getting a Diagnosis

Your doctor will need to check different parts of your child’s body to know if they have muscular dystrophy. They’ll start with a general physical exam. They’ll also ask you questions about your family’s medical history and the kind of symptoms you’re noticing in your child. They may ask:

  • Which muscles seem to be giving them trouble?
  • Do they have a hard time walking or doing their usual activities?
  • How long has this been happening?
  • Does anyone in your family have muscular dystrophy? What kind?

They also may ask you questions about how your child plays, moves, and speaks, as well as how they act at home and at school.

The doctor may use different tests to check for conditions that can cause muscle weakness.

  • Blood tests. They check for levels of certain enzymes that muscles release when they are damaged.
  • Electromyography, or EMG. Your doctor will put small needles, called electrodes, on different parts of your child’s body and ask them to slowly flex and relax their muscles. The electrodes are attached with wires to a machine that measures electrical activity.
  • Muscle biopsy. Using a needle, your doctor removes a small piece of your child’s muscle tissue. They’ll look at it under a microscope to see which proteins might be missing or damaged. This test can show the type of muscular dystrophy your child may have.
  • Tests of muscle strength, reflexes, and coordination. These help doctors rule out other problems with their nervous system.
  • Electrocardiogram or EKG . It measures electrical signals from the heart and tells how fast your child’s heart is beating and if it has a healthy rhythm.
  • Imaging can show the quality and amount of muscle in your child’s body. They may get:
    • MRI, or magnetic resonance imaging. It uses powerful magnets and radio waves to make pictures of their organs.
    • Ultrasound, which uses sound waves to make pictures of the inside of the body.

Doctors can also test a sample of their blood to look for the genes that cause muscular dystrophy. Genetic tests can help diagnose the condition, but they’re also important for people with a family history of the disease who are planning to start a family. You can talk with your doctor or a genetics counselor to find out what the results of this test mean for you and your children.

You’ll want to find out as much about your child’s condition as you can to learn how they can stay as healthy as possible. You may want to ask:

  • What kind of muscular dystrophy do they have?
  • Do they need any more tests?
  • Do we need to see any other doctors?
  • How will the disease affect their life?
  • What kinds of treatments are available?
  • How will they make them feel?
  • What can I do to keep their muscles strong?
  • Are there any clinical trials that would be good for them?
  • Will my other children get muscular dystrophy?

Inquiry Form

Fill out my online form.