Are there different levels of progeria




















People with this condition may live into their 40s or 50s. If your child has a type of progeria, their symptoms will likely begin to appear before or around their first birthday. Progeria is caused by a genetic mutation. The mutation occurs in the LMNA gene.

This gene is responsible for producing a protein that helps maintain the structural integrity of the nucleus in cells. This leads to rapid aging. Ongoing research has identified some promising drug options. Some children with progeria receive treatment for complications from the disease, such as hardened arteries.

The average lifespan for people with progeria is 13 years, although some people live into their 20s. Progeria is a fatal syndrome. People with progeria are at heightened risk of many health conditions. For example, they tend to dislocate their hips easily. Most of them eventually experience heart disorders and stroke. Tests may also show signs of insulin resistance , but cholesterol and triglyceride levels should be normal.

It does not affect motor skills, so children with the condition can sit, stand, and walk like any other child. There is no cure for progeria, but occupational and physical therapy can help the child keep moving if their joints are stiff.

Heart health is critical for people with progeria, so the doctor may prescribe statins, nitroglycerin for angina , and routine therapy for congestive heart failure. Self-care tips may include eating different foods when the lipid, or fat, profile begins to change, and eating small meals regularly to maximize calorie intake.

Sun screen is important for protecting the skin, and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body.

In children with progeria, genetic factors increase the risk of developing progressive heart disease from an early age. Children with progeria commonly experience cardiovascular events, such as hypertension , or high blood pressure , stroke, angina, an enlarged heart, and heart failure. These conditions are linked to aging.

The increased risk of heart disease means that life expectancy is normally between 8 years and 21 years, with an average of A doctor may suspect progeria by observing the signs and symptoms, for example, aging skin and hair loss.

A test for HGPS is available. This can make diagnosis and treatment possible from an earlier age. The cause of progeria has only recently been identified, but significant work is taking place to try to understand it. One possible treatment for progeria is farnesyltransferase inhibitors FTIs.

These are currently used for treating cancer , but scientists believe they might reverse the nuclear structure abnormalities that are thought to cause progeria. Studies on mice with progeria-like signs and symptoms suggest that FTIs may offer some improvement.

In September , results were released for a first clinical drug trial treatment for children with Progeria, using an FTI. The findings showed significant improvements in bone structure, weight gain, and the cardiovascular system.

In , another study indicated that an FTI known as lonafarnib may increase lifespan by an average of 1. Scientists are interested in understanding progeria. It may offer new insights into the aging process.

Unlike many genetic mutations, progeria is rarely passed down in families. The gene mutation is a rare, chance occurrence in the majority of cases. There are other progeroid syndromes that do run in families. These inherited syndromes cause rapid aging and a shortened life span:. There are no known factors, such as lifestyle or environmental issues, which increase the risk of having progeria or of giving birth to a child with progeria.

Progeria is extremely rare. For parents who have had one child with progeria, the chances of having a second child with progeria are about 2 to 3 percent. Children with progeria usually develop severe hardening of the arteries atherosclerosis. This is a condition in which the walls of the arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.

Other health problems frequently associated with aging — such as arthritis, cataracts and increased cancer risk — typically do not develop as part of the course of progeria. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Progeria pro-JEER-e-uh , also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life.

Request an Appointment at Mayo Clinic. Share on: Facebook Twitter.



0コメント

  • 1000 / 1000