Essay on Marfan Syndrome

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A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009). Marfan syndrome is an …show more content…
It is uniformly common in all countries around the globe. On account of this disorder being dominant, the copy of a single mutated FBN1 gene is required to generate the condition (Frey R, Lutwick L, 2009). One parent with the genetic disorder has a 50 percent probability of passing it to his or her offspring (Frey R, Sims J, 2010). Marfan syndrome is largely inherited although about 30 percent of diagnosed reports have described various mutations of the FBN1 gene in people with no family history of the disorder (Frey R, Lutwick L, 2009). Individuals with this disorder may live an average life span if they receive the proper treatment and diagnosis. Early treatment is essential for people with Marfan syndrome because severe heart problems and other critical symptoms may appear. Some patients who forego treatment die young as a result of heart complications. The life expectancy of people with Marfan syndrome has increased due to new medications and surgical procedures for the heart (Frey R, Lutwick L, 2009). The overall outlook for people with this disorder seems to be positive. A considerable amount of cases are not reported because certain individuals display only mild forms of the disorder that don't greatly impact their lives (Frey R, Lutwick L, 2009). There are many symptoms associated with Marfan syndrome. Some of those include extended limbs, a slim build, scoliosis, a chest that sinks in or protrudes, teeth that

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