Progeria: Causes, symptoms, and treatment

Progeria is a rare genetic condition that causes a person to age prematurely. Children with progeria appear healthy, but by the age of 2 years, they look as if they have become old too fast.

There are different types of progeria, but the classic type is known as Hutchinson-Gilford progeria syndrome (HGPS).

It is caused by a mutation in the lamin A (LMNA) gene, and it involves severe hardening of the arteries from a young age.

Children with this condition live on average for 14 years, because of the likelihood of developing atherosclerosis.

Around the world, 134 children are thought to have progeria across 46 countries. It is believed to affect 1 in every 4 million newborns of both sexes and all ethnicities.

Thirty years ago, little was known about the cause of progeria. In 2003, a progeria gene was discovered. This has given hope that a cure might one day be found.

It is sometimes called “Benjamin Button disease,” after Scott Fitzgerald’s fictional character. However, in the story, “The Curious Case of Benjamin Button,” Fitzgerald’s character ages backward. People with progeria age forward but quickly.

Fast facts about progeria

Here are some facts about progeria. More information is available in the main article.

Progeria refers to a genetic condition in which a child ages rapidly.

The condition is extremely rare, affecting around 1 in every 4 million children.

The disease can lead to fatal heart complications and a heightened risk of stroke.

Progeria is incurable, but symptoms can be managed.

A drug called Ionafarnib can extend the average 14 year life expectancy by 1.6 years.


[Progeria<!--mce:protected %0A--><br>Scaffidi, P., The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises, PLoS Biology, 2005</br>]
Progeria accelerates aging in children. The cell nucleus has aberrant morphology (bottom, right) rather than the uniform shape found in most people (top, right).
Image credit: Scaffidi, P., The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises, PLoS Biology, 2005

Progeria is a genetic condition.

Most children with progeria have a mutation on the gene that encodes for lamin A, a protein that holds the nucleus of the cell together. This protein is also known as progerin.

The defective protein is thought to make the nucleus unstable. This instability makes cells more likely to die younger, leading to the symptoms of progeria.

It seems to happen because of a rare genetic change. One parent may have the mutation, even though they do not have progeria.

There is not usually any family history, but if there is already one child in the family with progeria, there is a 2 to 3 percent chance that another sibling will have it.

Genetic testing can show whether a parent has the mutation or not.

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A newborn with progeria looks healthy, but by the age of between 10 months and 24 months, features of accelerated aging start to appear.

Signs of progeria include:

limited growth and short stature

lack of body fat and muscle

loss of hair, including eyelashes and eyebrows

early signs of skin aging, including thin skin

stiffness in the joints

visible veins


narrow, wrinkled, or shrunken face

a head that is large compared with the body

a small jaw bone

slow and abnormal tooth development

a high-pitched voice

limited range of motion and possible hip dislocation

generalized atherosclerosis, leading to cardiovascular and heart disease

The connective tissue in the skin tends to become tough and hardened.

Tests may also show signs of insulin resistance, but cholesterol and triglyceride levels should be normal.

Progeria does not impact the child’s brain development or intelligence, and it does not mean a higher risk of infection. It does not affect motor skills, so children with the condition can sit, stand, and walk like any other child.

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