Sunday, December 11, 2011

Marfan's Syndrome


Marfan’s syndrome is a disorder that affects connective tissue. Connective tissue helps support many parts of your body and holds all your limbs together. When a person has Marfan’s syndrome, their skeleton, heart, eyes, skin, nervous system and lungs are the most common body systems that can be affected. This disorder shows in many different ways. Some have mild symptoms and others have severe symptoms. Some severe symptoms include a collapsed lung, numb legs, a hernia, a heart murmur, or a curved backbone. Mild symptoms include having a long, narrow face, crowded teeth, nearsightedness, stretch marks, and snoring while sleeping. This disorder is caused by a defect in the gene that produces fibrillin. Fibrillin is a protein that makes up connective tissue along with other proteins. Fibrillin is also located on chromosome 15. All people are known to get Marfan’s syndrome. This includes: men, women, children, all ethnic groups and races. When someone thinks they have this disorder, their first step is to visit a medical geneticist. There they can determine if the person has the defected gene. There is not cure yet for Marfan’s syndrome but a lot of treatments can treat symptoms that occur. There are different treatments for each of the body systems. For example, if ones eyes are affected, regular eye check-ups are highly recommended because the doctor can catch and fix any eye problems that are expected. Usually, glasses can correct problems associated with Marfan’s Syndrome. People with Marfan’s Syndrome but do not realize, can die within 48 hours of having symptoms such as chest pains. But, if people catch it early enough and learn how to coupe with the disorder, people can live normal lives.

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