Progeria

A rare diseaese

What is Progeria?

Progeria is a rare genetic disease the causes children to age rapidly.


Symptoms of Progeria

Symptoms start showing when the child is around 18-24 months old. Symptoms may include:

  • Baldness
  • Aged looking skin
  • Small face and jaw relative to head
  • Prominent veins all over the body
  • Stiff joints
  • Profound failure to thrive in first year of life
  • Hip dislocation
  • Receding mandible
  • Narrow nasal bridge
  • Loss of subcutaneous fat
  • Severe progressive cardiovascular disease
  • Pinched nose
  • Decayed teeth or no formation of teeth


Who is affected by Progeria?

Progeria can affect anyone. It affects all races and both genders.


  • It is estimated that 100-200 people in the world have Progeria. There are most likely many cases that aren't reported or the children are killed.


  • About 1 in 8 million people get Progeria




What causes Progeria?

Progeria is a genetic condition caused by a mutation of the gene LMNA. When healthy, the LMNA gene produces lamin A protein which is the structural base that holds the nucleus of a cell together. An abnormal LMNA gene produces progerin which is the cause of Progeria. Although doctors know that Progeria is caused by a mutation of the LMNA gene, they don't know why the gene mutates the way it does. The LMNA gene is located on chromosome 1.



Prognosis

The average life span for someone with Progeria is 13 years. Some have lived to be 20 years old. People with Progeria usually die from a heart attack or a stroke.


16-year-old with Progeria An Inspiration to All

Treatment

There is no treatment for Progeria.


  • To slow heart disease some have undergone coronary bypass surgery and/or angioplasty to reduce the risk of cardiovascular problems cause by progressive heart disease.


How Does Progeria Affect The Body?

Progeria causes the all of the person's cells except for their nervous cells to age 8 times faster than normal.



Skeletal System:

  • Small frame
  • Thin bones
  • Susceptible to getting arthritis

X-Ray of Progeria Patient


A: Healthy skull with normal mandible

B: Skull with Progeria, mandible is receding


C: Clavical when healthy

D: Clavical with Progeria becoming deformed


E: Clavical still healthy slightly disformed

F: Clavical has progressive resorption


G: Ribs that are healthy and have normal morphology

and mineralization

H: Ribs with Progeria are very thin, person has a pacemaker


Cardiovascular System

Severe progressive atherosclerosis with variable age of clinical manifestation resulting in:
  • Cardiac manifestations: angina, congestive heart failure

  • Stroke, and silent strokes that are seen on MRI or CT of the head


Effect of Progeria on the Integumentary System

Person with Progeria


  • Prominent veins over most of body
  • Loss of hair
  • Prominent eyes
  • Lack of ear lobes, in some but not all cases
  • Loss of eyebrows and sometimes eyelashes
  • Unhealthy fingernails and toenails
  • Some have the inability to fully close the eye
  • Thin lips


Healthy Person


  • The epidermis protects the inside of the body from the outside world
  • Skin is moisturized
  • The epidermis is waterproof and has elasticity
  • Hair to protect from the Sun
  • Subcutaneous fat provides a layer of cushion between skin and the muscles, bones, and organs
  • Hair is present on almost all of the body


4 Year Old Boy With Progeria

Healthy 4 Year Old Boy

Night of Wonder

Saturday, April 12th, 10pm-12am

Cambridge, MA, United States

Cambridge, MA

Bibliography

"About Progeria." Progeria Research Foundation. Progeria Research Foundation, n.d. Web. 19 Nov. 2013.


Board, A.D.A.M. Editorial. "Progeria." Progeria. U.S. National Library of Medicine, 08 Apr. 2011. Web. 19 Nov. 2013.


Gordon, Leslie B., W. Ted Brown, and Francis S. Collins. "Hutchinson-Gilford Progeria Syndrome." NCBI. U.S. National Library of Medicine, n.d. Web. 22 Nov. 2013.


"Hutchinson-Gilford Progeria Syndrome." Genetics Home Reference. N.p., n.d. Web. 19 Nov. 2013.


"Learning About Progeria." Learning About Progeria. N.p., n.d. Web. 25 Nov. 2013.


N.d. Photograph. Disease Progression in Hutchinson-Gilford Progeria Syndrome: Impact on Growth and Development. Web. 2 Dec. 2013.


N.d. Photograph. Family Takes on Progeria in 'Life According to Sam' Web. 4 Dec. 2013.


N.d. Photograph. Hayley Okines: There's a Lot to Be Positive about. Web. 9 Dec. 2013.


N.d. Photograph. Http://www.theblaze.com/stories/2012/09/25/you-wont-believe-what-firefighters-across-the-country-did-for-a-4-year-old-with-cancer/. Web. 11 Dec. 2013.


N.d. Photograph. Rochelle, the Girl Who Is 80 Years Old. Web. 17 Dec. 2013.


N.d. Photograph. South Africa Observes New Case of Progeria. Web. 6 Dec. 2013.


N.d. Photograph. Web. 9 Dec. 2013.


"Progeria 101/FAQ." Progeria Research Foundation. Progeria Research Foundation, n.d. Web. 26 Nov. 2013.


Saey, Tina Hesman. "Rare Disease Sets Mom's Research Agenda." Science News 23 Feb. 2013: n. pag. Print.