Marfans Syndrome

Living with Marfans Syndrome

Genetic cause and Diagnosis

Marfans Syndrome is a dissorder that causes weakening of the connective tissue. It is inherited as a dominant trait, which means that people who have it only needed to get the gene from one parent. Those who have Marfans can pass the dissorder on to offspring because the gene is dominant. Marfans Syndrome is diagnosed by the physical appearance of the individual. It is uncommon in the general population, but easily noticable if someone has it.

symptoms of Marfans syndrome

skeletal system

People with Marfans syndrome tend to be unusually tall with long extremities. The skeletal system of these people is elongated compared to normal people. They tend to be above average height, with long and slender limbs, fingers, and toes. Their arms are disproportionaly long with weak wrists. Abnormal curving in the spine is common for those who have Marfans. An indentation in the chest and muscle and joint pain are not uncommon.

eyes & cardiovascular system

People with Marfans can be affected with near and farsightedness. The cardiovascular system can be weakned which can result in fatigue and a shortness of breath. Racing heart beats are often found as symptoms of Marfans. Also, aortic pain radiating down the back, giving a tearing sensation is possible.

lungs & central nervous system

The lungs are an important area for those with Marfans Syndrome to keep in mind. As well as shortness of breath, air can escape from the lungs and if not treated, cause death. The central nervous system can also be affected. Weakening of the dural sac can reduce the quality of life. headaches are common and neurological symptoms in lowter extremities.

Management

There is no cure for Marfan Syndrome. In most cases Marfans is not fatal, and pain as well as other harmful symptoms are treated when they arise. The life expectancy for women is 74 years , and for men it is 70 years. Skeletal symptoms are treated for the appropriate condition. Varius pain medications and muscle relaxants are available. Physical therapy is an option for joint problems. There is a surjery that can correct the sunken chest. Cardiologist checkups are needed on the heart and heart valves. Marfans Syndrome can impact the persons physical activity as well as their quality of life. In most cases physical activity is not advised. There are support groups like The National Marfan Foundation that help people with Marfans.

sources

en.wikipedia.org/wiki/Marfan_syndrome

www.ncbi.nlm.nih.gov

www.childrenshospital.org

by, Owen Robinson


National Marfan Syndrome Benefits