ProgeriaProgeria

By Emily AratoBy Emily Arato

Progeria is a disease that causes a person Progeria is a disease that causes a person to age prematurely.to age prematurely.

It appears as a normal person does while It appears as a normal person does while aging except it happens at a very young aging except it happens at a very young

age.age. This disease is very rare. Only one in 8 This disease is very rare. Only one in 8

million people in the world is born with million people in the world is born with Progeria.Progeria.

Symptoms:Symptoms:

Growth failure during the first few years of lifeGrowth failure during the first few years of life Narrow, shrunken, or wrinkled faceNarrow, shrunken, or wrinkled face Baldness and loss of eyebrows and eyelashesBaldness and loss of eyebrows and eyelashes Short statureShort stature Large head for the size of the face and bodyLarge head for the size of the face and body Small jawSmall jaw Dry, scaly, thin skinDry, scaly, thin skin Limited range of motionLimited range of motion Delayed or abnormal development of teethDelayed or abnormal development of teeth

Signs of ProgeriaSigns of Progeria

Insulin-resistant diabetesInsulin-resistant diabetes Connective tissue becomes tough and Connective tissue becomes tough and

hardenedhardened Cardiac stress testing may reveal signs of Cardiac stress testing may reveal signs of

early atherosclerosis of blood vessels early atherosclerosis of blood vessels (fatty material collects along the walls of (fatty material collects along the walls of arteries and becomes hard)arteries and becomes hard)

90% of those with this disease have a mutation 90% of those with this disease have a mutation on the gene that encodes the protein Lamin A.on the gene that encodes the protein Lamin A.

This protein helps hold together the cell nucleus. This protein helps hold together the cell nucleus. When the nucleus is unstable, it leads to more When the nucleus is unstable, it leads to more cell division and the body wears out quicker.cell division and the body wears out quicker.

Typically, a person with Progeria will die around Typically, a person with Progeria will die around 13 but some have been known to live up to the 13 but some have been known to live up to the

age of 30. age of 30. Death is usually related to heart attack or stroke Death is usually related to heart attack or stroke

due to the calcium build up in their arteries.due to the calcium build up in their arteries.

Passing On ProgeriaPassing On Progeria

Progeria is not known to be passed down Progeria is not known to be passed down from parent to child. It is typically a chance from parent to child. It is typically a chance

occurrence that is extremely rare.occurrence that is extremely rare. Progeria can be passed down within a Progeria can be passed down within a family but that occurs only once in every family but that occurs only once in every

400 million births.400 million births. There is only one known family to have There is only one known family to have

two non-twin children with Progeria.two non-twin children with Progeria.

Testing for ProgeriaTesting for Progeria

Now that the gene that causes Progeria Now that the gene that causes Progeria has been found, a blood test can confirm has been found, a blood test can confirm

whether or not the suspected child has this whether or not the suspected child has this disease.disease.

Treatments/CuresTreatments/Cures

Currently, there is no cure for Progeria. Currently, there is no cure for Progeria. The Progeria Research Foundation has The Progeria Research Foundation has many experimental drugs for those with many experimental drugs for those with

this disease but nothing has been this disease but nothing has been confirmed to help.confirmed to help.

Daily Life and LimitationsDaily Life and Limitations

Most children with Progeria have a hard Most children with Progeria have a hard time with fine motor skills. It is typically time with fine motor skills. It is typically

difficult for them to write or draw because difficult for them to write or draw because it causes their hands to cramp up. They it causes their hands to cramp up. They get stared at because of how they look get stared at because of how they look

and often have a hard time in school due and often have a hard time in school due to their differences.to their differences.

Progeria OrganizationsProgeria Organizations

The Progeria Research Foundation is currently The Progeria Research Foundation is currently looking for a cure for this disease but are not looking for a cure for this disease but are not

close to finding it yet.close to finding it yet. http://www.progeria.be/index_EN.phphttp://www.progeria.be/index_EN.php is a is a

website written by the only family with two website written by the only family with two children that have Progeria. It gives a lot of children that have Progeria. It gives a lot of

information on both the disease and support for information on both the disease and support for parents. All the children with Progeria get parents. All the children with Progeria get together every year as a support group.together every year as a support group.

BibliographyBibliography

"Progeria - PubMed Health." "Progeria - PubMed Health." PubMed HealthPubMed Health. Web. 28 Feb. . Web. 28 Feb. 2011. 2011. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH000262<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622>.2>.

"Progeria Research Foundation | Progeria 101/FAQ." "Progeria Research Foundation | Progeria 101/FAQ." Progeria Research Foundation | HomeProgeria Research Foundation | Home. Web. 28 Feb. . Web. 28 Feb. 2011. 2011. <http://www.progeriaresearch.org/progeria_101.html>.<http://www.progeriaresearch.org/progeria_101.html>.

"Progeria Information." "Progeria Information." Progeria.beProgeria.be. Web. 28 Feb. 2011. . Web. 28 Feb. 2011. <http://www.progeriaeng.centerall.com/custom1.php>. <http://www.progeriaeng.centerall.com/custom1.php>.