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Observations and diagnosis

In reality duchenne is usually diagnosed between the ages of two and seven years old, family members notices a child with duchenne when there are rather slow in developing skills such as walking, sitting, movement and in general an inability to keep up with their peers in such areas. These may be some distinguished signs that could indicate if a child has duchenne muscular dystrophy.

As duchenne is a muscle wasting disorder, boys with duchenne become more tired easily and therefore may need to be carried in short distances and/or may need the use of a stroller or a wheelchair for longer distances

A doctor begins to suspect muscular dystrophy when a young boy becomes weak and grows weaker. An enzyme (creatine kinase) leaks out of muscle cells, causing levels of creatine kinase in the blood to be abnormally high. However, high blood levels of creatine kinase do not necessarily mean that a person has muscular dystrophy because other muscle diseases may also cause elevated levels of this enzyme. Duchenne muscular dystrophy is diagnosed when blood tests show the gene for the protein dystrophin to be absent or abnormal and when a muscle biopsy (removal of a piece of muscle tissue for examination under a microscope) shows extremely low levels of dystrophin in the muscle. Under the microscope, the muscle generally shows dead tissue and abnormally large muscle fibers. In the late stages of Duchenne muscular dystrophy, fat and other tissues replace the dead muscle tissue. Similarly, Becker muscular dystrophy is diagnosed when blood tests show the gene for the protein dystrophin to be abnormal and a muscle biopsy shows low levels of dystrophin in the muscle, but not as low as in Duchenne muscular dystrophy.

Families with members who have either Duchenne muscular dystrophy are advised to consult a genetic counselor for help in evaluating the risk of passing the muscular dystrophy trait on to their children. Families with a history of duchenne muscular dystrophy can now find out early if their child would have duchenne, there now tests that can be done on the fetus to determine whether or not the unborn child is affected by these muscular dystrophy

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