Progeria
Description:
Progeria is a mutated gene that was discovered on April 16, 2003. It’s better known as Hutchinson- Gilford Progeria Syndrome. Out of the four genes, two from mother and two from father, only one becomes mutated between transfers. Progeria affects about one in eight million children and there are approximately 78 children in 31 countries with Progeria. This rare disease can occur without any history within the family. The Progeria gene affects a child from the beginning of life to the end. There is no cure as of today. However, tests are being conducted to find a cure, prevention, and/or treatment. Although tests are being done on Progeria, very little action is being taken compared to other more common diseases and syndromes. The children affects with Progeria do have to take part in physical therapy, cardiac care nutrition, frequent heart checks, and much more. By taking part in these they can help things like joint stiffness, strokes, and heart attacks.

Inheritance:
Progeria is caused by a mutated gene. Out of two genes from the mother and two genes from the father one gene becomes mutated and is considered the LMNA gene. Progeria is not genetic and can happen without any history of being in the family.

Symptoms:
Narrow face
Beaked nose
Heart attacks
Short stature
Irregular heartbeat
Rapid aging
Strokes
Stiff joints
High-pitched voice
Loss of eyebrow/ eyelashes
Loss of muscles/ body fat

Daily Life:




Diagnosis:
On April 16, 2003 doctors discovered the gene that led to Progeria. That gene was called the LMNA gene. Now doctors can identify the gene and can give the proper care to the patients. The kids don’t start showing signs and symptoms of HGPS – Hutchinson- Gilford Progeria Syndrome- until about eight months of age. Progeria testing is possible with the use of amniocentesis.

Treatment:
Treatment involves a extent of care that involves cardiac care, nutrition, and physical therapy. Also daily aspirin have proven to prevent joint stiffness and heart attacks. Children with Progeria must have frequent heart checks because most Progeria related deaths are caused by heart attacks.

Research:
As of right now there is no cure for Progeria. It is still a disease that starts at birth and ends in death at a young age. There are tests being conducted to find a cure or prevention for Progeria, however, no tests have proven to be faithful. Work is being done on Progeria, but doctors are focusing more on the common diseases and syndromes. Progeria is extremely rare. In 2010 a Progeria research foundation published a handbook to help Progeria patients.

Additional Facts:
Children with Progeria are below average height and below average weight. Also there are about 78 children in 31 countries living with Progeria. This means about one in eight million children are affected by Progeria. By having Progeria your cells represent the ones of very, very old adults. Progeria was discovered on April 16, 2003. People with Progeria can do any kind of mental work. Progeria does not affect their mental ability.

Pedigree Chart:
LisaDPedChartProgeria.PNG

Pictures:

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Resources:

This website has information for everyone, doctors, parents, and even patients
.https://progeriaresearch.org/about_progeria.html

This website provides plenty of information on Progeria. It could help a lot of people that need it.
http://www.ncbi.nlm.nih.gov/books/NBK1121/

This website has information of symptoms, treatment, causes, and so much more.
http://www.buzzle.com/articles/progeria-symptoms.html