children s health issues
Muscle Defects
Diagnosis of Muscle Defects
Before birth, ultrasonography After birth, physical examination Sometimes genetic testing Before birth, doctors are sometimes able to diagnose these defects during an Ultrasonography . After birth, doctors can identify the defects during a physical examination. Because abnormal genes may be involved in birth defects of the muscles, affected babies should be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes. 