What is Marfan Syndrome? Marfan Syndrome affects your body's connective tissues. It is usually genetically passed down. Connective tissues are all over the body, so this mutation can affect all over. It may alter your appearance but never your intelligence.
What is the gene that the mutation occurs in to cause Marfan Syndrome? When the FBN1 gene mutates, it creates the effects of Marfan Syndrome.
What protein is produced by this gene? Fillibrillin-1 is produced from FBN1.
How and when was Marfan Syndrome first discovered? In 1896, Marfan took on the case of Gabrielle P, the first girl to be recognized of what will later on be called Marfan syndrome.
Atoine Marfan, 1858-1942.
What is the incidence rate of Marfan Syndrome in the US? In the world? 1 in 5,000 people will get Marfan syndrome internationally.
Are any specific populations of people affected more than others? No, this is mainly a random genetic disorder passed through the family.
What are the symptoms of Marfan Syndrome? Sometimes the symptoms of Marfan Syndrome will not even be recognized until they get older, even though they are born with it. Examples of symptoms include but are not limited to; long limbs, curved spine, sunken-in chest, flexible joints, and flat feet. This syndrome does not affect intelligence. Heart problems may also be a sign of Marfan syndrome. Due to variable expression, everyone who has Marfan Syndrome experience symptoms differently.
Marfan Syndrome Hand Test.
How is Marfan Syndrome diagnosed? Doctors and researchers will run diagnostics test on their patients that include but are not limited to; Prenatal testing, biopsy, diagnostic imaging, liver function test, and nuclear scans. Identifying this disorder early could save lives.
How is Marfan Syndrome treated? Some examples of treatment are fixing vision problems, monitoring for scoliosis, medicine for slowing the heart down, avoiding contact sports, and surgery in more extreme cases.
What is the prognosis for a patient diagnosed with the disease? Mostly good, with a normal lifespan. However, this disorder must be under treatment for life. Early identifications and future technology has improved the outcome of those affected with Marfan Syndrome.
What is the genetic pattern of inheriting Marfan Syndrome? This disorder is dominant and autosomal, which means that it takes one altered copy of the gene to cause the disorder.
What current research is being conducted on Marfan Syndrome? World-class scientists are working tirelessly on finding ways to make this condition easier to live with. They currently are trying to push the government to fund money for this research. They recently have discovered new forms of Marfan Syndrome that can help researchers find specific facts and treatments.
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Marfan Syndrome Overview. Composed by Kerri Leath, adapted by Dr. Z, Youtube, 2010. Youtube, www.youtube.com/watch?v=ab_B0lZqq6M.
Health Grades, Inc, editor. “Prognosis of Marfan Syndrome.” Right Diagnosis, Healthgrades, 13 Aug. 2015, www.rightdiagnosis.com/m/marfan_syndrome/prognosis.htm. Accessed 5 Feb. 2017.
Marfan Foundation, editor. “What Is Marfan Syndrome?” Marfan Foundation, 2014, www.marfan.org/about/marfan. Accessed 31 Jan. 2017.