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Progeria, the "Aging Disease"

Updated on October 23, 2015

Laymen have called it the “aging disease,” but the correct medical term is Hutchinson-Gilford Progeria Syndrome. The medical community generally refers to it as progeria. The word Progeria comes from the Greek progeros, meaning 'prematurely old'. Progeria is a rare, progressive, genetic disorder causing children to age rapidly.

Many have seen these old looking children on TV talk shows and documentaries. They have the more rare form of progeria. About 97% of the children affected are Caucasian. But, there is another more common type that affects adolescents and adults called Werner syndrome.

Hutchinson-Gilford progeria was discovered in 1886 by Jonathan Hutchinson who documented the clinical features of a 6 year old boy displaying an absence of hair and skin atrophy. The condition appears during the first two years of life and since its discovery, only about 130 cases have been documented.

To date there is no known cure and few people with progeria live longer than 13 years of age. The average age of death is 16, but survivors until 26 have been documented. Approximately 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.

Although there isn’t a cure, there are treatments for the problems it causes, such as arthritic, respiratory, and cardiovascular problems. However, ongoing research has shown some promise for treatment.

Symptoms of progeria are comparable to aging at a rate eight to ten times faster than normal. But those with the disease show no nerve degeneration or predisposition to cancer. A few other conditions they don’t exhibit are normal "wear and tear" commonly associated with aging, such as cataracts . In any case, mental development is not affected.

The exact cause for this mysterious disease is unclear, but most researchers generally believe it is caused by a single abnormal gene. Children born with it, usually appear normal at birth. But by 12 months, signs and symptoms begin to appear, such as skin changes and hair loss. While not affecting intelligence it does age the body more rapidly than normal, leaving its’ victims with fragile bodies comparable to that of someone nearing 100 years old.

This extremely rare genetic disease causes a body’s metabolism to accelerate much faster, about seven times the normal rate. Because of this, a child of ten would look 70. And they may also have similar respiratory, cardiovascular, and arthritic conditions. Mental growth has been determined to be equivalent to other children of the same age group.

Researchers suspect progeria to be the result of a dominant mutation. It affects approximately 1 in 8 million children. Currently, about 30 to 40 cases of progeria worldwide have been reported. Progeria is no respecter of race or culture and children around the world have been affected. In fact, children suffering from progeria are apt to be remarkably similar in appearance despite of being of different racial background.

A big drawback for medical professionals is presently there are no laboratory tests which can be given for a diagnosis. The diagnosis is usually made in the first or second year of life when skin changes and failure to gain weight have become apparent. Because of the lack of a specific laboratory test at this time, the diagnosis must be based on the physical appearance of the individual.

Some common features and symptoms of progeria include:

  1. Dwarfism
  2. A small face and jaw in relation to size of head
  3. Delayed tooth formation
  4. Wrinkled, aged-looking skin
  5. Stiffness of joints and hip dislocation
  6. Baldness
  7. Pinched nose
  8. Large skull
  9. Bird-like features
  10. Atrophy of muscles and skin
  11. Loss of subcutaneous fat

Children with progeria, usually appear normal in early infancy. At about six months of age, profound growth delays may be noted, resulting in short stature and low weight. In addition, by the second year the scalp hair, eyebrows, and eyelashes are lost and scalp hair may be replaced by small, downy, white or blond hairs. Other striking characteristics can include unusually prominent veins of the scalp.

Additional symptoms associated with progeria may include a distinctive, high-pitched voice; absence of the breast or nipple; absence of sexual maturation; hearing impairment and other abnormalities.

Werner syndrome, a lesser known, but more common form of progeria, occurs in about 1 in 1 million individuals. It is typically identified when an adolescent fails to have a normal growth spurt. Some characteristic symptoms of Werner syndrome are:

  1. . Striking difference between the person's appearance and their real age

    2. Gray hair or balding, wrinkling of the face, cataracts, sunken cheeks, small jaw and a high-pitched voice

    3. Osteoporosis, small stature, muscle weakness

    4. Diabetes and cancer are common

Werner syndrome seems to target people of Japanese and Sardinian heritage more often. People with Werner syndrome have a life expectancy of about 46 years. Most die of heart disease or cancer.

In 1992, researchers discovered Chromosome 8 as being the culprit behind Werner syndrome in 2003 the specific gene was identified. Researchers are working to discover what part this gene plays.

But, the gene responsible for Hutchinson-Gilford syndrome has not yet been identified. Therefore, researchers do not know what causes the syndrome.

In both syndromes, studies indicate although the person may look like they are growing old prematurely, a number of conditions develop that are very different from those of elderly people. For example, people with Werner syndrome develop osteoporosis, but their form of the bone disease is more pronounced in the long leg bones. Researchers are hoping to find more clues about the genetics involved.


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    • JY3502 profile imageAUTHOR

      John Young 

      7 years ago from Florence, South Carolina

      Your welcome catspirit, and thank you for becoming a follower.

    • catspirit profile image


      7 years ago

      This is one of the most heart-wrenching childhood diseases. I remember studying about it in school and the images haunted me. Thanks for presenting an informative article on the subject

    • JY3502 profile imageAUTHOR

      John Young 

      7 years ago from Florence, South Carolina

      That's very interesting Martie. I'm going to look at that page.

    • MartieCoetser profile image

      Martie Coetser 

      7 years ago from South Africa

      I knew a boy who had the Progeria Syndrome. He attended a normal public school until the infirmities of age forced him to stay home. He had a beautiful personality and was loved by one and all. People all over the country loved to spoil him - they made all his dreams come true. He died some years ago of natural causes… can’t remember the detail. He was the only one in his family who had the syndrome.

      And we have Leon Botha (born 4 June 1985, Cape Town, South Africa) is a South African painter and musical performer, as well as one of the world's oldest survivors of progeria. His webpage –


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