children s health issues
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Diagnosis
Blood tests Genetic tests Sometimes muscle biopsy Doctors suspect muscular dystrophy based on characteristic symptoms, for example, a young boy becomes weak and grows weaker, particularly when there is a family history of muscular dystrophy or unexplained weakness in boys. Doctors do blood tests to measure the levels of the enzyme creatine kinase. In muscular dystrophy, creatine kinase leaks out of muscle cells, causing levels in the blood to be abnormally high. However, high blood levels of creatine kinase do not necessarily mean that a boy has muscular dystrophy because other muscle diseases may also cause elevated levels of this enzyme. Doctors also often do a test called Electromyography and Nerve Conduction Studies (EMG), which helps record a muscle's electrical activity. Duchenne muscular dystrophy is diagnosed by doing genetic tests (DNA tests) on a blood sample to identify mutations in thedystrophingene. If genetic tests cannot confirm the diagnosis, doctors do a muscle biopsy (removal of a piece of muscle tissue for examination under a microscope) to determine levels of the protein dystrophin in the muscle. When looking at the muscle tissue under the microscope, doctors see dead tissue and abnormally large muscle fibers. The protein dystrophin cannot be detected or is detected in extremely low levels in people who have Duchenne muscular dystrophy. Similarly, Becker muscular dystrophy is diagnosed when genetic tests show defects in thedystrophingene. A muscle biopsy shows a low level of the protein dystrophin in the muscle but not as low as in Duchenne muscular dystrophy. Children who have Duchenne muscular dystrophy undergo Electrocardiography and Close family members of children who have either Duchenne or Becker muscular dystrophy can have DNA tests of blood to detect the gene. Prenatal tests on a fetus to can help determine whether the child is likely to be affected. 