MARFAN SYNDROME (ALTON

GIANT)

By Mitch & Russell

How Does a person inherit it? Is it dominant or recessive?

This disease can be passed down from parent to child. It is autosomal dominant

It can also be caused by a mutation on the FBN1 gene on chromosome 15, which accounts for 15%-30% of the diseases appearance.

How Can it be Treated?

Marfan syndrome cannot be treated. However surgeries can be conducted to strengthen organs and limbs and lengthen life expectancy.

How prevalent is the disease in the population?

60,000-200,000 Americans have it. Which is about .02% of the total population have it. It is found equally among males and females.

What are the chances of a person with this disease passing the disease to their offspring?

A parent with the disease has a 50% of passing it on.

15%-30% of the cases for this disease are cause by random mutations in which neither parent has the disease.

How is the Disease Diagnosed?

Currently there are no tests to diagnose this disease

The disease is diagnosed by simple observation to physical characteristics.Physical conditions cause by this disease

appear obvious .

What are the Physical Symptoms?

Physical symptoms include long limbs and fingers, a tall stature and predisposition to cardiovascular abnormalities. May also affect lungs, spinal cord and hard palate. Heart valves, Aeorta and the Retna are weakened and must be surgically stabilized.

What is the life expectancy of someone with the disease?

Due to many medical advances recently in the treatment of this disease a person can live close to the normal life span of a human.

What are some new treatments or research that is going on the disease? Scientists are studying the genes that

affect a person with Marfan Sydrome by looking at large family groups that have a history of the disease.

If the disease is a chromosomal abnormality describe the abnormality.

Mutation affects a glycoprotein called

fibrillin-1. This protein is essential for proper formation of connection tissue.

What is everyday life like? A person with Marfan Syndrome can live

a pretty normal life.However this person must take precaution

not to over excert themselves physically.Also they must undergo preventive surgery

and treatments to strengthen their bodies.

What limitations does the person have? Cannot have children without risking life

to themselves and children. Fatigue easily Have constant cramps and aches in

limbs.

Organizations National Marfan

Foundation.

http://www.marfan.org

How possible is it that a cure will be found? Considering the fact that it is such a rare

disease there is a low chance that a cure will be found, because not a lot of resources are but into it.

Also it is a genetic mutation that occurs at birth and cannot be changed once a baby is born.

JOEY RAMONE

Vincent Schiavelli

Jonathon Larson

Flo Hyman

Silver Medal in Women’s Volleyball 1984

Touching Ground

Bibliography

http://www.marfan.org

http://en.wikipedia.org/wiki/Marfan_syndrome