Essay About Rare Inherited Muscle Disease And Muscular Dystrophy

Muscular Dystrophy
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Muscular dystrophy is a rare inherited muscle disease in which the muscle fibers are unusually susceptible to damage. The muscles, primarily the voluntary muscles, become progressively weaker. In the late stages of muscular dystrophy, muscle fibers often are replaced by fat and connective tissue. There are several types of muscular dystrophy. The various types of the disease affect more than 50,000 Americans. Many are associated with specific genetic abnormalities.The most common muscular dystrophies appear to be due to a genetic deficiency of the muscle protein dystrophin. These types of the disease are called dystrophinopathies. They include: · Duchennes muscular dystrophy. This is the most severe form of dystrophinopathy. Duchennes muscular dystrophy affects young boys. Signs and symptoms of the disease usually appear between the ages of 2 and 5. Children with the disease fall and have difficulty getting up off the floor. By late childhood, most are unable to walk. Most die by their late teens or early 20s, often from pneumonia, respiratory muscle weakness or cardiac complications. · Beckers muscular dystrophy. This is a milder form of dystrophinopathy. It generally affects older boys and young men, and progresses more slowly, usually over several decades. Duchennes and Beckers muscular dystrophy are passed from mother to son through one of the mothers genes. The disease can skip a generation until another son inherits the defective gene. In some cases of Duchennes and Beckers muscular dystrophies, the disease arises from a new mutation in a gene rather than from an inherited defective gene. Other types of muscular dystrophies can be handed on from generation to generation and affect males and females equally. Still others require a defective gene from both parents. Signs Are: · Muscle weakness · Apparent lack of coordination · Inability to elevate your arms over your head · Progressive crippling, resulting in loss of mobility Diagnosis: · Blood Tests-Damaged muscles release enzymes such as creatine kinase (CK) into the blood. High blood levels of CK suggest a muscle disease such as muscular dystrophy · Electromyography- Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease. The distribution of the disease can be determined by testing different muscles. · Muscle Biopsy-A small piece of muscle is taken for laboratory analysis. The analysis distinguishes muscular dystrophies from other muscle diseases · Genetic Testing-This can be done simply by a small blood sample for laboratory testing to see weather there is a abnormal gene Treatment- There is currently no cure for any form of muscular dystrophy. Research into gene therapy may eventually provide treatment for some types of muscular dystrophy. Anti-inflammatory corticosteroid medications have been used to try to slow the progression of Duchennes muscular dystrophy. Physical and occupational therapy can help to maximize the function of