Rare diseases- Progeria a reasearch project for Anatomy and Physiology period:4A

General Description

Progeria is also known as Hutchinson-Gilford Progeria Syndrome, Werner Syndrome (adult form), Cockayne Syndrome, and Rothmund- Thomson Syndrome. The name stems from the Latin and Greek words of pro and geriaos which mean, in the simplest terms, ‘prematurely old’. Progeria occurs in two forms; Hutchinson-Gilford Syndrome and Werner Syndrome. It was first described by DR. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1904 (Hutchinson-Gilford) and by Otto Werner in 1904 (Werner).

Progeria is an extremely rare genetic disease that accelerates the aging process to approximately 7 times the normal rate. Children with this disease will experience similar conditions, respiratory, cardiovascular, and arthritic, that a 70 year old person would.

Children with progeria look normal during their first years of life, but soon symptoms begin to appear (for these, consult the symptoms page). By the age of 1 or 2, their hair turns lighter in color, and eventually begins to fall out. By 3 or 4, they are almost completely bald, thin skinned, wrinkled and spotted in various parts of their body, with a stooped appearance and large veiny heads, a pinched nose, delayed tooth formation, stiffness of joints, hip dislocations, cardiovascular problems, arteriosclerosis, wrinkled/aged-looking skin, dwarfism. The children develop early arteriosclerosis, high blood pressure heart disease, and stroke. They do not, however, typically show other characteristics of aging such as Alzheimer's disease, and arthritis of the hips unless caused by prior hip dislocations. They very rarely reach a height of 3’6” (107cm) or a weight of 40 lbs (18 kg). People with progeria seldom make it to the approximate age of 30, and for most the lifespan is the early teens. They all bear a remarkable resemblance to each other. They both look alike and are affected by very similar symptoms. Although their physical appearance is beyond their years their mental development and intelligence is at the normal place for their actual age. These children are capable to do their work in school and due to their open nature, they make friends easily despite those people that would treat them unkindly.