Make your own free website on Tripod.com

Holding On to Hope

Hutchinson-Gilford Progeria Syndrome

Home
AD
AP
BDS
CML
CD
CF
DJS
EB
HD
HGPS
IV
KWS
MNS
MS
NS
OS
PD
QF
TS
XP

progeria3.jpg



Progeria, or Hutchinson-Gilford progeria syndrome, is a rare fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years.

Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg immediately prior to conception.

Credit to - www.rarediseases.org

progeria-2.jpg


Please donate to a Progeria charity today and help these poor children!

Progeria Research Foundation
P.O. Box 3453
Peabody, MA 01961-3453

Phone: 978-535-2594
E-mail: info@progeriaresearch.org
Home page: http://www.progeriaresearch.org

or send to

Progeria Research Foundation, Inc.
532 Lowell Street
Peabody, MA 01961-3453


Here are some websites you can check out to learn more about Progeria:


Never forget there is hope.