Hutchison-Guilford Progeria Syndrome

AKA: Progeria

What Is Progeria?
Progeria is a rare genetic condition characterized by an appearance of accelerated aging in children. Generaly, children that are 10 years of age will have the same respitory, muscular, and general health of a 70 year old adult.

The general characteristics are dwarfism, baldness, a pinched nose, small face and jaw relative to head size, delayed tooth formation, aged-looking skin, stiffness of joints, hip dislocations, generalized atherosclerosis, and cardiovascular problems. Most children affected have a remarkably similar appearance, despite racial background. At present, there is no cure or specific treatment available because the exact cause in unknown.

Associated Disease: Werner Syndrome
AKA: Progeria of the adult

More Information:
Written by W. Ted Brown, MD, PhD
Professor and Chairman, Dept. Of Human Genetics
NYS Institute for Basic Research
Staten Island, NY

Hutchinson-Gilford Progeria Syndrome is an extremely rare genetic disease that accelerates the aging process to about seven times the normal rate. Because of this accelerated aging, a child of ten years will have similar respiratory, cardiovascular, and arthritic conditions that a 70-year-old would have. Currently, there is no cure for this disease, and because of its rare nature, no definitive cause can be pinpointed.

Progeria affects between 1 in 4 million (estimated actual) and 1 in 8 million (reported) children, with a total reported incidence of just over 100 in the century since it's been identified. There are currently between 30 and 40 known cases worldwide of Progeria. Children from all races and cultures from around the world have been affected. Some physical features of Progeria children include dwarfism, wrinkled/aged-looking skin, baldness, and a pinched nose. Mental growth is equivalent to other children of the same age. Most children with Progeria live no longer than their early teenage years, though one or two have lived to be as old as 20 or 21.

Progeria was first described by Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1904. There is still no cure and due to the extreme rarity of the disease, it's exact cause is not known (though it has been determined to be genetic rather than environmental).

On April 16, 2003, the Progeria Research Foundation and National Institutes of Health announced the discovery of the gene responsible for this disease. A single, simple change from cytosine (C) to thymine (T) within the Lamin A gene was detected in 18 of 20 children studied who suffered from classic progeria.

It is expected that further research into the effects of this genetic mutation will help shed light not only on this disease, but on human aging itself.

Some other symptoms (not mentioned above) of Hutchinson-Gilford Progeria Syndrome are muscle atrophy, reduced amount of fat, receding chin, micrognathia (unusually small and underdeveloped jaw), an unusually small face, and skeletal problems. It one of the rarest diseases in the world, and possibly the rarest genetic disease. It is thought to be autosomal dominant. That malfunction occurs on chromosome 1, which is a non-sex chromosome (this is not a sex-linked disease). The disease IS sporadic, however, high parental ages have been reported in most cases.

There are several theories regarding the cause. Some scientists have thought that the reduced activity of enzymes play a vital role. Another popular theory is that certain types of compounds, dubbed "free radicals", cause damage to cells. This results in enhanced aging.

Obviously, there are no cures, but the victim can take skin creams, dental surgery, nose spray, etc. Also, the victim can take medicines which increase longevity (although understandably, certain victims would rather shorten their lifespan considering the hellish effects of the disease).

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