Scientists have been struggling with the cause, treatment of, and cure for muscular dystrophy since its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease, affecting thousands of people every year, two-thirds being children between the age of birth through adolescents. However, Muscular dystrophy can occur with no family history of the disease.
Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers become extremely weak they start to die and are replaced by connective tissue. The connective tissue is fibrous and fatty rather than muscular. These replacement fibers are normally found in skin and scar tissue and are not capable of movement, which cause the muscles to become even weaker.
While muscular dystrophy continues to be a debilitating disease, there are a variety of recognizable types, Duchenne muscular dystrophy, or pseudohypertrophic, being the most common. In this disease, the muscles involved are in the upper thigh and pelvis. The disease strikes in early childhood, usually between the ages of three and five years of age. This form is genetic, transmitted from mothers who are known to be carriers of the defective gene. Although rare, females with a history of ovarian dysgenesis have been known to develop symptoms of Duchenne muscular dystrophy.
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Duchenne muscular dystrophy is caused by a defect in the dystrophin gene that is vital for healthy muscles. The abnormality causes little or no dystrophin protein to be produced which is critical for cell membrane growth. A direct result of fluid leakage from outside of the cell membrane into the muscle is weakness in the upper thigh and pelvis. Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.
While there is no known cure, scientists are certain of the genetic make-up that causes muscular dystrophy, an inherited faulty gene. This gene can be inherited in one of four ways: X-linked or sex-linked recessive, when a man with X-Linked muscular dystrophy has children, Autosomal Recessive Inheritance, and Autosomal Dominant Inheritance.
The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.
Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.
The final link to inheritance of Muscular Dystrophy is known as Autosomal Dominant Inheritance. With each pregnancy, this couple has a 50% chance of producing an affected child, whatever the child’s sex. Based on this percentage, both parents should consider genetic counseling prior to bearing children.
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Although there is no known cure for Muscular Dystrophy, researchers continue to analyze the make-up of the faulty gene and a suitable treatment. However, doctors and researchers find themselves in a dilemma, lack of necessary funding. Without sufficient funding doctors can only prolong the lives of individuals affected by muscular dystrophy. Through genetic counseling doctors are able to educate couples on the rare possibility that they may produce affected offspring. By doing so couples can make the decision whether to continue the inheritance of the defective gene to their offspring, or make a conscience decision not to. Through medical research we will have a cure of how to stop this debilitating disease.
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