What is Progeria?

Progeria can be defined as a disease of accelerated aging. A person with Progeria looks noticeably strange, with a big bald head, small mouth, visible blue veins, shortness, and stiffness when walking. Children with Progeria look so strange because rapid aging is occurring despite that the child is still very young. A child with Progeria may have many of the same health issues that an elderly person may face, and usually die of a heart attack or stroke. However, Progeria does not affect the way a child thinks or acts. A child with Progeria may still be very happy, and can be very social.

Cause

The cause of Progeria is a mutation in a person’s DNA which produces a defective chromosome which causes premature cell death. The gene with the mutation is called LMNA. The defective LMNA gene produces Lamin A which is a protein. Lamin A is a protein that holds the nucleus of a cell together. When this protein is defective, the nucleus is unstable, causing premature cell death. The defective gene which causes Progeria is rarely passed down through families.

Symptoms

The earliest symptom seen in a person with Progeria is a failure to thrive (poor weight gain and growth) and sclerotic skin. Once the child is older, more symptoms become apparent such as a ‘bird-like’ face (a small face and jaw with a pinched nose), excessive thinness, and alopecia (hair loss). People diagnosed with Progeria usually have small and fragile bodies with wrinkling skin like that of an elderly person. A child with Progeria may also have cardiovascular and bone abnormalities.

Population
Very few people are diagnosed with Progeria. About 1 in 4 to 8 million newborns are diagnosed with Progeria. Progeria affects both sexes and all races equally.

Prognosis
Unfortunately, because a cure has not yet been found for Progeria, the average child with Progeria will live to be about 13 years old. However, some people with Progeria have lived to be almost 30 years old. 90% of people with Progeria die from a complication of atherosclerosis, such as heart attacks or strokes. Although people with Progeria age quickly, they usually do not develop cataracts or osteoarthritis, and are not predisposed to diseases like cancer. Progeria does not affect the mind at all, so only the body is affected. Physical life for children with Progeria is similar to those of elderly people because they have difficulties with mobility, however children with progenies still have lots of energy.