Hutchinson-Gilford progeria syndrome (HGPS), also called progeria or premature aging syndrome, is a medical disorder in which a random genetic mutation causes cells in the body to die at a much faster rate than normal. Its name derives from the Greek and means “prematurely old.” Progeria is so rare it occurs only once in every 8 million births; at the time this article was written, only 62 people around the world were known to be living with the disorder.
Rare diseases provide medical researchers a window to better understand how the body works. Recent groundbreaking research on progeria may not only be paving the way toward an effective treatment, but could explain some of the mysteries of aging, including cancer.
Symptoms of Progeria
Although children with progeria have normal intelligence and motor control skills, they look older than they actually are. They appear normal at birth, but within 6 months to 2 years, symptoms of premature aging start to emerge. During this time, the child grows at a much slower rate in terms of height and weight than children of the same age. Clinical features of progeria include a disproportionately large cranium, small jaw, prominent scalp veins, baldness, wrinkled/thick skin, loss of body fat, cardiovascular disease and stroke, hearing loss, stiffness of joints and hip dislocation. If a doctor suspects a child has progeria, a genetic test may be performed to confirm a diagnosis.
Despite these sobering symptoms, most children with progeria can thrive and live remarkably healthy lives. However no cure exists and the life expectancy of a progeria patient is tragically short. Ninety percent succumb to complications related to atherosclerosis, or heart disease. Children with progeria may live to be 7-30 years old, but on average most die by age 13.