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What is Progeria?

Progeria, or Hutchinson Gilford Progeria syndrome, is an extremely rare, fatal genetic condition of childhood with striking features resembling premature aging. The word Progeria is derived from the Greek meaning “prematurely old”. Hutchinson Gilford Progeria accelerates the process of aging to about eight times the normal rate. Because of this accelerated aging, a child with Hutchinson Gilford Progeria that is ten years old will have similar respiratory, cardiovascular, and arthritic conditions of that of an eighty year old.

Hutchinson Gilford Progeria has a reported incidence of about 1 in 8 million newborns. It affects both sexes equally and all races. In the past 15 years, children with Progeria have been reported all over the world, including in Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam, and Yugoslavia. Hutchinson Gilford Progeria is one of the world's rarest diseases. There are only about 40 known cases throughout the world to this date. There has been only about 100 reported cases since the first diagnosis by Jonathan Hutchinson in 1886 and Hastings Gilford in 1904.

Children with Progeria usually have a normal appearance in early infancy. At about 9-24 months of age, children with Progeria begin to experience profound growth delays, resulting in short stature and low weight. These children also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head, an undeveloped jaw, and malformation and crowding of the teeth, abnormally prominent eyes, a small nose and a subtle blueness around the mouth. By the second year of life, children with Progeria lose their hair from the scalp, lose their eyebrows and eye lashes. Small, downy, white or blonde hairs may replace the scalp hair. Hutchinson Gilford Progeria is extremely difficult to diagnose in newborns, but certain suspicious findings may be present at birth, such as unusually taut, shiny, hardened skin over the buttocks, upper legs and lower abdomen, and bluish discolouration of the skin around the mouth. Profound, progressive growth retardation usually becomes evident by approximately 9-24 months of age. According to reports in the medical literature, affected children who are 10 years of age typically have a height of that of an average 3 year old.

Although the time of onset of more definitive symptoms varies from case to case, generally by the end of the first year there is noticeable growth retardation and the appearance of physical features commonly associated with Hutchinson Gilford Progeria.

Progeria is a life limiting disease that results in the Progeria children dying of heart disease and other ageing related problems at an average age of 13, with a range of about 8-21 years of age.

 

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