Marfan Syndrome


Description: (TNR, 12, Bold)
Marfan Syndrome is a genetic disease where the body is basically stretched out in all joints, muscles and in all of the connective tissue areas of the body. Also this disease is when a mutation happens in the gene where the body makes and creates fibrillin 1 in chromosome 15. Fibrillin is an important protein in connective tissue, and when the body receives way to much of it in increases the growing process and stretches out all joints and muscles. Also all spots of the body will have an astronomical amount of fibrillin which is not good for the body at all. This disease will not kill you, but it isn’t a simple way of life for these patients.
Inheritance:If a couple has a child and one of the parents has this disease the child can get the disease. The child has a 50/50 chance of inheriting it. But this isn’t the only way this disease is inherited. You may also have a spontaneous mutation where you are the first one in your family to receive this disease. The disease is autosomal dominant. What’s that ? well, its when the disease will always be received by the children. There will be no over riding of the bad gene basically.
Symptoms:
Marfan Syndrome has many different symptoms. They will almost always have a wingspan that is measured longer than their normal height vertically. Their arms will be like spider legs along with their legs. Very thin, long body features. Marfan syndrome patients tend to be very skinny and thin, also having very bony body features. Eye sight will almost always be weak and struggling. Breathing, lung and asthmatic problems always come with the Marfan syndrome patients along with cardiovascular problems. Another very large issue is Dural Ecstia , which is where the back and spine tissue swells up and lacks which causes many problems beings that the spine carries the daily nerves for your body.
Daily Life:

Diagnosis:Marfan syndrome does not have a 100% sure diagnosis for this disease. It’s not a blood type or a gender or an ethnic group. It runs in everyone. But doctors do have many things they do to diagnose this syndrome. They call it clinical evaluation. They give people echocardiograms wich are heart tests that look at the aortic valves and the valves, and connective tissues around the heart. Electrocardiograms are also given which look at the rhythms and speeds of the heart beat. Patients are also given a slit lamp eye exam which looks at the joints and eye lenses of they eyes to see if they’re stretched and pulled out of place. Cat scans and M.R.I’s are given on a regular basis also to see all of the tissues and joints in the body and to see how they were and are formed. Once again there is no simple blood or genetic test to see if this disease is 100% positive to a patient. Yes they can compare genes with a parent and child but it wont guarantee if the child has this.
Treatment:
Marfan Syndrome doesn’t have a specific cure but patients have a regular visit with many doctors. They go to see eye doctors for their sight and joint problems because many patients have eye sight problems. They have annual evaluations of the body and bones. Joints are also checked up on monthly. Heart tests and evaluations are given on a regular basis also. Cardiovascular operations are found to be very common with these patients also. Chiropractors are a necessity to these patients also to keep the spine in place and safe. Inhalers and asthmatic problems are a big issue, so they are treated regularly also. Physical activity is needed with these people because it keeps the body active and stable.
Research:
No medicine can treat this disease but they do research daily on how to help these people. The big study is for the eyes. They study the joints and connective tissues to see what they can do to restore them and make them much more stable. Also they have tried to find a medicine or exercise to strengthen the connective tissues to the body. Heart and cardiovascular medicines and studies are also being conducted to try and fix the major and most dangerous issue of them. All in all the big studies are for the connective tissues and to help them be much more stable.
Additional Facts:
Mqarfan Syndrome is not just in one ethnic group, gender, or blood type. This disease can run in anyone person.
Punnett Square:
maddie_w_punnet_square.PNG

Pedigree chart:
maddie_w_pedigree_chart.PNG
Pictures:
umarfan_syndrome_2.jpg
marfan_syndrome1.jpg

Resources:
About Marfan Syndrome
www.marfan.org

Living With Marfan Syndrome
www.marfan.org

Research
www.marfan.org


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