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Emily Adams

on 15 April 2013

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4th period
Nervous system
Wolfe-Anatomy 2013
Emily Adams Progeria is an extremely rare genetic disorder .
It is when there is premature aging in children.
The disease affects many parts of the body such as the skin, bones, and arteries. when the children are born with Progeria they look like a normal baby. Progeria is caused by a mutation in the gene called LMNA
The LMNA gene produces the Lamin-a protein which is the structual part that holds the nucleus together.
This cellular instability appears to lead to the premature aging in the children with this disease Signs Progeria the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first discovered it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. The word Progeria is coined from a Greek word that means"prematurely old." They don't begin showing signs of the disease until around the ages of 18-24 months. The children commonly look the same with a pinched nose, small face and jaw with larger heads. growth failure
loss of body fat
loss of hair
aged-looking skin
stiffness of joints
hip dislocation
cardiovascular disease and stroke. The test to figure out if a child has Progeria is a DNA-based, diagnostic test An organization called Progeria Research Foundation has founded a genetic test that can identify HGPS.
This can translate into earlier diagnosis, fewer misdiagnoses and early medical intervention to ensure a better quality of life for the children. Cardiovascular disease, which usually leads to a heart attack, is usually the main cause of death. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries to slow the progression of cardiovascular disease Some of these treatments are used to either ease or delay the signs & symptoms low-dose asprin to help prevent heart attacks
medications used to lower cholesterol
use of a growth hormone that may help increase height & weight.
Physical & occupational therapy to help with stiffend joints and hip problems. Some of the other features you may notice are: delayed tooth formation
high pitched voice
impaired or absence of sexual development. As of February 2013 there are 100+ children in 36 different countries living with Progeria Even though children with Progeria look eight times older than there age, they still act the same age as any other child that is the same age. Unfortunaly Progeria is a 100% fatal diease The life expectancy of children with this disease is on average 13 years Questions 1. Progeria is caused by a _________ in the gene LMNA
2.At what age do children being showing signs of Progeria?
3.True/False is a pinched nose a physical sign of Progeria?
4.Does Progeria have a cure?
5.What is the life expectancy of a child with the disease?
6.What kind of test is used to figure out if a child has this disease?
7. What are two signs of progeria?
8. What is usually the main cause of death with it?
9. How many children are known with this diease today?
10. How fatal is Progeria? Answers 1. mutation
2. 18-24 months
4. No
5. 13 years
6. DNA test
7. Large head, small jaw
8. Cardiovascular diease
9. 100+
10. 100% Works Cited http://www.progeriaresearch.org/medical_database.html


http://www.progeriaresearch.org/faq.html#5 Even though there is no cure for the disease, after a definitive diagnosis of Progeria, physicians can provide families with medical treatment information and start treatment on the patient as soon as possible.
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