Progeria: Children with an Elderly Body

If you have ever seen the movie, The Curious Case Of Benjamin Button, you may have been under the impression that it has no connection to reality. In fact, however, there a medical condition known as progeria (technical name = Hutchinson-Gilford Progeria Syndrome).

RECOMMENDED BOOKS ON PROGERIA:

Old Before My Time: Hayley Okines' Life with Progeria
 
Old at Age 3, the story of Zachary Moore

Progeria comes from the Greek words “pro” meaning “before” and “geras” meaning “old age”. It is a reference to a disorder in which the signs of old age are present before they should be -- when the person is a young child. In essence, in progeria, an elderly person is present in a child’s body, both physically and genetically. Progeria is extremely rare, only occurring in one out of every 8 million births. There are only 80 known children with progeria in the entire world.

Diagnosis of progeria is based on clinical examination of the child and can be confirmed with a genetic test. Signs of progeria include hair loss, wrinkles, missing teeth, delayed growth, lack of weight gain, dry scaly skin, vision loss, fragile bodies, pinched nose, and a small jaw. As the child ages, signs of progeria become more advanced. Interestingly, cognitive impairment is usually intact despite the increased risk of cognitive impairment in the normal aging population. Motor functioning is usually also preserved. Most children with the condition only live until 12 years of age. The main cause of death is atherosclerosis (hardening of the arteries), which can lead to a heart attack or stroke. Ninety percent of children with progeria die from one of these two causes.

The cause of progeria itself is caused by a mutation (change) in the LMNA gene. This gene provides instructions for the Lamin A protein, which holds the skeleton of the cell’s nucleus (headquarters) together. The changed gene alters instructions to the Lamin a protein, causing instability of the cell’s nucleus, which leads to premature aging. Unfortunately, there is no treatment of cure for progeria although attempts are made to reduce cardiovascular problems.