Progeria

By: Quinci & Haley

Definition and symptoms
Progeria is an extremely rare genetic disease where children have
premature aging.

Its name comes from the Greek word geras which means old age

Newborns look normal but after a year their growth slows and they
are much shorter and weigh much less than other kids their age.

Physical symptoms: baldness, aged-looking skin, a pinched nose, and

a small face and jaw relative to head size

Internal symptoms: joint stiffness, hip dislocations, and and severe,

progressive cardiovascular disease
Causes of the Disorder
The gene known as lamin A (LMNA) makes a protein that is necessary
for holding the center (nucleus) of a cell together. When this gene has a
defect, most researchers believe the genetic mutation makes cells
unstable. Which shows to lead to progerias aging process.
Inheritance
Progeria is an autosomal dominant condition

This disease comes from mutations in the LMNA gene and almost
always occurs in people with no history of the disease in their family.
How is it treated
There is currently no treatments or cures for Progeria currently. However
some children go through coronary artery bypass surgery in order to try
and slow the life threatening cardiovascular complications.

Most children with this disease die by age 13 from heart attack or
stroke
How is it diagnosed
There is now a genetic test for Hutchinson-Gilford Progeria syndrome
(HGPS) which is now available. Called FTI farnesyltransferase inhibitor.
In the past doctors had to diagnose progeria off of physical symptoms.
This test now lets doctors diagnose the child at a younger age and use
treatment early-on in the disease process.

Such as:
Skin changes

Failure to gain weight

They were not fully apparent until the first or second year of life.

Dwarfism
What are the odds?
This disease only affects one in 4 million newborns worldwide

-only 80 children in the world currently have this disease and 18 of

them are from the US

- it doesnt matter what gender they are or where they live

What we learned
- I learned that anyone can be affected by this disease, your parents
dont necessarily have have Progeria

- This is a very rare but serious condition

- Kids still suffer from this disease today and there are still no cures
for it
References
Learning About Progeria. (n.d.). Retrieved March 31, 2017, from
https://www.genome.gov/11007255/learning-about-progeria/

About Progeria. (n.d.). Retrieved March 31, 2017, from

http://www.progeriaresearch.org/about_progeria/

Progeria Causes. (n.d.). Retrieved March 31, 2017, from

http://www.mayoclinic.org/diseases-conditions/progeria/basics/causes/con-20
029424

Hutchinson-Gilford progeria syndrome - Genetics Home Reference. (n.d.).

Retrieved March 31, 2017, from
https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#inheri
tance