Imagine being a parent and discovering that your child won’t be able to walk by the age of 12 and won't live past the age of 20. This has become a reality for many parents as they find out that their child has a form of muscular dystrophy. This particular type of muscular dystrophy is referred to as Duchenne Muscular Dystrophy, which is a genetically inherited disorder that is the most common and severe of all muscular dystrophies. It is found in 1 of every 3,500 males and is characterized by progressive muscle wasting. It is caused by the lack of dystrophin, which is a protein found in the cell membrane of muscles.
One early clinical sign of the disease is the child showing a late start in walking and sometimes they are referred to as a late bloomer. Usually when the child walks they have a waddling motion and sometimes they walk up on their toes. Usually, hypertrophy, or enlarging of the muscles, especially in the calves is noticed. However, the hypertrophy is actually caused by adipose (fat) tissue, which replaces the muscle tissue. This may make the muscles larger, but it doesn’t make them any more useful (Cummings, 213). Another clinical sign of DMD is small amounts of mental retardation or learning disabilities. Although this is not apparent until the child is older, it is a common pattern that is found in children with DMD. There have been many studies done to determine what exactly causes the mental retardation. Researchers did a study in the early 1990’s and found that the protein dystrophin was not only found in the muscles but also in the brain’s cortex, cerebellum and hippocampus (Wahl). This has led researchers to believe that if the muscles were lacking the dystrophin to cause the muscle degeneration then the brain must also be lacking the dystrophin, which could lead to different learning disabilities that are sometimes found in an individual with DMD.
Duchenne’s Muscular Dystrophy is an X-linked recessive genetic disorder caused by a deficiency of the protein dystrophin, which is found in muscle cells. This X-linked disorder is usually only found in males. It has very rarely been found in females because they have two X chromosomes and the disease is recessive. The reason only males get DMD is because the source of the disease is found on the X chromosome of heterozygous females (Cummings, 108). They pass it on to one half of their sons and...
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...t families with DMD and fund research projects.
In conclusion, Duchenne Muscular Dystrophy is a severe form of muscular dystrophy that causes progressive muscle degeneration. Its main cause is the lack of the protein dystrophy that is necessary for the muscles to function properly. It is tough for the victims and their families because there is no definite cure and they usually don’t live past the age of 20. Hopefully in the future, technology will enable researchers to be able to find a cure that will be a 100 percent effective when used. Until that time comes, all DMD victims can do is wait and hope.
Cummings, Michael R. & William S. Klug. Concepts of Genetics 4th Ed. New York: Macmillan College Publishing Company, 1994
“Duchenne Muscular Dystrophy”, www.rlc.dcccd.edu/MATHSCI/reynolds/MO/dmd2.html. October 25, 1999.
“Stem Cells Join Pipeline in Fight Against DMD.” www.mdausa.org/publications/Quest/q66resup.html. December, 1999.
“Study Impacts Muscular Dystrophy.” http://personal.neworld.net/~woliver/news.html. July, 1999.
Wahl, Margaret “The Brain in Duchenne Muscular Dystrophy.” www.mdausa.org/publications/Quest/q41braindmd.html. January, 1997.