By: Lauren O’NeillBlock 3

Definition: fatal genetic condition that accelerates aging process by 8 times the normal rate

First case found in 1886 by Jonathon Hutchinson and Hastings Gilford

There have only been 100 reported cases in the whole world since discovery

Any gender/race can have this disease About 1 in 8 million newborns are

diagnosed with Progeria

Diagnosis No diagnosis test can confirm Progeria Genetic mutation testing can prove one

has the disease A blood test can be taken to support a

diagnosis of Progeria Progeria is difficult to diagnose in

newborns, but certain symptoms may be present at birth

Transmission Caused by a single gene mutation Gene being mutated is Lamin A (LMNA)

– makes protein that is crucial to holding nucleus together

Disease is not passed down from family Affects a single sperm or egg just

before conception

Signs of Progeria 9-24 months:

› growth delays› low weight› undeveloped jaw› crowding of teeth› prominent eyes› small nose

Signs of Progeria By 2 years old:

› lose their hair from the scalp

› lose their eyebrows and eye lashes

› Small and white or blonde hairs sometimes replace the scalp hair

› Loose, aged-looking skin

› Stiff joints › High-pitched voice

10 years old:› Have the height of a

3 year old› Hip dislocation

Symptoms of Progeria Noticeable growth retardation Heart disease Baldness Arthritis

A stroke or heart disease can lead to death of the Progeria patient

Treatment No known cure has

been found Hydrotherapy: exercise

and relaxation in a hydrotherapy pool to relieve arthritis pain

Nutrini: dietary supplement to give patients nutrition needs

Pro-Cal: gives energy and protein to daily diet

Vitamin E: helps protect cells against radicals that contribute to heart disease

Aspirin: helps prevention of heart disease

Fluoride: helps make patients’ weak teeth stronger

Figures: Signs of Progeria

Figures: Nuclei of Progeria

› Healthy nucleus

› Nucleus of Progeria patient

Figures: Progeria patients hi

Reference List Mayo Clinic staff. (2009, April

24). Causes. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/DS00936/DSECTION=causes

Mayo Clinic staff. (2009, April 24). Symptoms. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/ds00936/dsection=symptoms

Mayo Clinic staff. (2009, April 24). Tests and diagnosis. Retrieved May 21, 2010, from http://www.mayoclinic.com/health/progeria/ds00936/dsection=tests-and-diagnosis

Okine. (2009). Hayley's Progeria Page. Retrieved May 21, 2010, from http://www.hayleyspage.com/index.htm

Shah, K. N. (2009, February 27). Hutchinson-Gilford Progeria. Retrieved May 21, 2010, from http://emedicine.medscape.com/article/1117344-overview