Progeria - shsbiogeneticdisorders

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Alternative Names
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•
•
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Hutchinson-Gilford Syndrome
Hutchinson-Gilford Progeria
Hutchinson-Gilford Disease
Souques-Charcot syndrome
Who is most likely to get Progeria?
• There is no way of knowing who will get
Progeria, it is not passed down in families.
• 1 in 4-8 million get Progeria.
• It is rare that someone gets Progeria from
a family member (1 in 400 million).
• Gender does not matter in Progeria any
one could get it.
Symptoms
• When the kids are born they all look the same.
• At about 18-24 months the symptoms start kicking in.
• The symptoms are:
- Growth failure
- Lose of body fat and hair
What the nucleus
looks like for a
- Aged looking skin
Progeria patient. 
- Stiffness of joints
- Hip dislocation
- Cardiovascular Disease and stroke
• Progeria is caused by a mutation in the gene LMNA (Lamin). This
gene produces A protein which holds the nucleus of the cell
together.
• The Lamin that is defective makes the nucleus unstable.
How common is Progeria?
• 1 in 4-8 million
• If contributed by a family member 1 in 400
million.
Is Progeria deadly?
Can it shorten lifespan?
• Yes, Progeria can be deadly most children
die from heart disease.
• The lifespan of someone who has
Progeria averages about 13 but it ranges
from 8 to 21.
Can you be tested for Progeria?
• You can see when a child has the
symptoms of Progeria at 18-24 months.
• Most people know what Progeria looks like
so you don’t really know until they start
changing when they grow older.
Is there a treatment for Progeria?
• There is no treatment for this disease,
sadly all they can do is live with it.
• Physical Therapy can help lower the heart
attacks that the patients have.
• Also physical therapy can help the joint
stiffness.
Are there any support groups?
• There are many support groups for
Progeria.
One popular group is:
http://www.progeriaresearch.org/
Interesting Facts
• People with Progeria age 7 times faster
then we do.
• Know number of kids with Progeria, 54 in
30 countries.
• Have the mind of a 10 year old.
Works Cited
"Progeria Facts." Buzzle Web Portal: Intelligent Life on the Web. 18
Oct. 2010. Web. 26 Jan. 2011.
<http://www.buzzle.com/articles/progeria-facts.html>.
Online, Credit Card. "Progeria Research Foundation | Progeria
101/FAQ." Progeria Research Foundation | Home. Nov. 2008. Web.
26 Jan. 2011. <http://www.progeriaresearch.org/progeria_101.html>.
"Progeria - Symptoms, Diagnosis, Treatment of Progeria - NY
Times Health Information." Health News - The New York
Times. 2007. Web. 26 Jan. 2011.
<http://health.nytimes.com/health/guides/disease/progeria/ove
rview.html>.
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