Muscular dystrophy

At Children’s Hospital Boston, we understand that the first step in treating your child’s muscular dystrophy is to form an accurate and complete diagnosis.

When and how is MD diagnosed?

Most children are diagnosed when they’re about 3-5 years old, when it becomes apparent that their physical abilities are not following the  normal course of development. Usually, symptoms of MD can easily be detected during a physical exam.

A telltale clinical characteristic for Duchenne’s muscular dystrophy (DMD) is the Gowers sign:

• Children with DMD find it very hard to get up from a sitting or lying position on the floor. They first pull up to their hands and knees.

• The child then “walks” his hands up his legs to brace himself as he rises to a standing position. Keen

Infants with congenital myotonic dystrophy may "slip through”:

• Your child's physician puts his hands around the sides of the child's chest, right up under his arms.

• As the child is lifted up, his shoulders weaken and move upward, almost allowing him to slip through the physician's hands.

More in-depth diagnostic tests for muscular dystrophy may include:

• Blood tests that show abnormal levels of creatine kinase (CK) may be a red flag for MD. Elevated levels of CK, an enzyme that leaks out of damaged muscle, indicate that muscle tissue is being destroyed.

• Genetic testing, which may be performed on a blood sample, can confirm the diagnosis in many cases of MD, especially in DMD and BMD.  However, there are a number of other forms of MD, so if your child does not have one of the more common types, a muscle biopsy may be needed.

• Muscle biopsy, where a small sample of muscle tissue is taken under anesthesia and examined under a microscope. This may be important as the diagnostic tool for less common MDs.

• Electrocardiogram (ECG or EKG), a test that records the electrical activity of the heart, shows arrhythmias or dysrhythmias (abnormal rhythms) and detects any damage to the heart muscle. This test is done when in cases where MD runs in the family and a diagnosis in the child has already been confirmed or suspected.