Duchenne Muscular Dystrophy - A Simple Explanation

First and foremost, muscular dystrophy refers to a group of muscle disorders which are progressive in nature and genetically transmitted. The commonest type among this group of muscular disorders is Duchenne muscular dystrophy. The mode of genetic transmission is such that the disease only affects males.

So exactly what type of dysfunction is happening to the muscles of children with Duchenne muscular dystrophy? In simple term, unlike normal muscles, here the muscle fibers gradually die and the dead muscle fibers are replaced instead by connective tissues and fat. However to date, researchers have been unable to accurately pin-point the basic biochemical defects that contributes to the deterioration of muscle fibers and their replacement by connective tissues and fats.
How do I know my son has Duchenne muscular dystrophy? A child is usually suspected to have Duchenne muscular dystrophy when there are the following symptoms such as delayed in ability to walk, difficulty in getting up from a sitting position, prone to falling and tendency to walk in a tip-toe fashion as well as a waddling manner. In addition to the above symptom s, the calf muscle of these children with Duchenne muscular dystrophy also tends to enlarge as a result of the tip-toe walking to compensate for the weakness of the anterior thigh muscle when walking. This is often medically termed as pseudo-hypertrophy of the calf muscles.

Nonetheless, you will still need to bring your child to a doctor for him/her to confirm that your child has Duchenne muscular dystrophy. The diagnosis is often clear from a family history of similar disease and some simple examinations. However, a blood test on the body levels of a type of enzyme called creatinine kynase and a muscle biopsy (a procedure in which a small piece of muscle tissue is obtained for microscopic examination) will put the diagnosis beyond doubt.

Unfortunately as already aforementioned, the disease is progressive and there is no definitive cure for the disease. Wasting will continue throughout and the disease is almost ultimately fatal, usually before one reaches 20 years of age. The cause of death is most often from repeated infection of the lungs. This is because as the disease progresses, muscles from other parts of the body are affected such as the heart muscles which also eventually enlarges. The frequent infections of the lungs are the end result of the progressive weakening of the chest muscles. In simple words, as the muscle of the chest weakens, one is unable to breathe normally hence predisposing to infection of the lungs. A milder version of the disease known as Becker disease occurs but it is rare.

Treatment for these patients with Duchenne's muscular dystrophy mainly centers on delaying or preventing deformity, special schooling assistance and adequate emotional support which involves the parents as well. Last but not least as it is a disease which has no cure, detection of female carriers and appropriate counseling is of utmost important. The enzyme levels of the creatinine kynase are slightly elevated in about 50% of carriers. As for the remainder half of the carriers in which the enzyme levels are normal, detection are now possible through chromosomal analysis.