Diagnosis of Muscular Dystrophy

The first step in the process of diagnosis of muscular dystrophy is to get a detailed medical history of the patient. The doctor may ask the patient a variety of questions related to personal, medical and familial history. A careful review of your family's history may help the doctor determine genetic predisposition to the disease. Some of the other tests for muscular dystrophy include:

  • Blood Tests: As the muscles get damaged, they release markers or enzymes which can be picked up by blood tests. One such enzyme is the creatine kinase, which may suggest a muscular disease.
  • Electromyography: This is a test in which a thin electrode is inserted into the muscle. This electrode measures the electrical activity occurring in the muscles, especially when you relax or tighten the muscles. The changes recorded in the patterns of electrical activity can help understand the nature and degree of the dystrophy.
  • Ultrasonography: This is a common imaging technique in which sound images are used to produce images of the muscles. This can help find out muscular abnormalities so that the disease can be detected in its early stages.
  • Muscular Biopsy: A thin needle is used to retain a sample of the muscular tissue so that it can be analyzed in a laboratory. These lab tests can then identify any markers associated with muscular dystrophy and any other specific conditions that affect the muscles.
  • Genetic Testing: Since most of the muscular dystrophies are associated directly with genetic mutations, blood samples may be used to look at a person's genes and determine whether there are any genetic mutations. If genetic mutations are found, other tests are used to find the exact nature of these mutations. In some cases, the genetic mutations are hard to identify.