In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Doctors may find pseudo hypertrophy, lumbar spine deviation, gait abnormalities, and several grades of diminished muscle reflexes. Much can be learned from these observations, including the pattern of weakness. A patient’s history and physical go a long way toward making a diagnosis, even before any complicated diagnostic tests are done. Cardiomyopathy in patients with DMD may be associated with conduction abnormalities as well. A doctor may observe characteristic changes in an electrocardiogram. Also, structural changes in the heart, as valvular heart disease (specially affecting the mitral valve when it occurs) can be detected by echocardiography. Therefore, electrocardiogram, non-invasive imaging with echocardiography or cardiac MRI is essential, along with consultation with a cardiologist. Early in the diagnostic process, doctors often order a blood test called a CK level. CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. When elevated CK levels are found in a blood sample, it usually means muscle is being disintegrated by some abnormal process, such as a muscular dystrophy or inflammation. A very high CK level suggests that the muscles themselves (and not the nerves that control them) are the likely cause of the weakness, although it does not indicate exactly what type of muscle disorder might be occurring. High levels of CK may be found before the onset of symptoms, even in new-borns affected by DMD. Genetic testing involves analysing the DNA of any cells (usually blood cells are used) to see whether there is a mutation in the dystrophin gene, and if so, exactly where it occurs. Journal of Clinical Chemistry and Laboratory Medicine announces papers for the upcoming issue.

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Journal of Clinical Chemistry and Laboratory Medicine