Progeria By Emily Arato.

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Presentation transcript:

Progeria By Emily Arato

Progeria is a disease that causes a person to age prematurely. It appears as a normal person does while aging except it happens at a very young age. This disease is very rare. Only one in 8 million people in the world is born with Progeria.

Symptoms: Growth failure during the first few years of life Narrow, shrunken, or wrinkled face Baldness and loss of eyebrows and eyelashes Short stature Large head for the size of the face and body Small jaw Dry, scaly, thin skin Limited range of motion Delayed or abnormal development of teeth

Signs of Progeria Insulin-resistant diabetes Connective tissue becomes tough and hardened Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels (fatty material collects along the walls of arteries and becomes hard)

90% of those with this disease have a mutation on the gene that encodes the protein Lamin A. This protein helps hold together the cell nucleus. When the nucleus is unstable, it leads to more cell division and the body wears out quicker. Typically, a person with Progeria will die around 13 but some have been known to live up to the age of 30. Death is usually related to heart attack or stroke due to the calcium build up in their arteries.

Passing On Progeria Progeria is not known to be passed down from parent to child. It is typically a chance occurrence that is extremely rare. Progeria can be passed down within a family but that occurs only once in every 400 million births. There is only one known family to have two non-twin children with Progeria.

Testing for Progeria Now that the gene that causes Progeria has been found, a blood test can confirm whether or not the suspected child has this disease.

Treatments/Cures Currently, there is no cure for Progeria. The Progeria Research Foundation has many experimental drugs for those with this disease but nothing has been confirmed to help.

Daily Life and Limitations Most children with Progeria have a hard time with fine motor skills. It is typically difficult for them to write or draw because it causes their hands to cramp up. They get stared at because of how they look and often have a hard time in school due to their differences.

Progeria Organizations The Progeria Research Foundation is currently looking for a cure for this disease but are not close to finding it yet. http://www.progeria.be/index_EN.php is a website written by the only family with two children that have Progeria. It gives a lot of information on both the disease and support for parents. All the children with Progeria get together every year as a support group.

Bibliography "Progeria - PubMed Health." PubMed Health. Web. 28 Feb. 2011. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622>. "Progeria Research Foundation | Progeria 101/FAQ." Progeria Research Foundation | Home. Web. 28 Feb. 2011. <http://www.progeriaresearch.org/progeria_101.html>. "Progeria Information." Progeria.be. Web. 28 Feb. 2011. <http://www.progeriaeng.centerall.com/custom1.php>.