Monday, December 7, 2009

Progeria

Progeria (also known as "Hutchinson–Gilford progeria syndrome" and "Hutchinson–Gilford syndrome") is an extremely rare, severe, genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The disease has a very low incidence and occurs in one per eight million live births. Those born with progeria typically live about thirteen years, although many have been known to live into their late teens and early twenties and rare individuals may even reach their forties. It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. Progeria affects children and gives them an appearance of accelerated aging.

Progeria appears to affect children of all races equally. Over the last 15 years the following countries have had reported cases - 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.

Signs of Progeria may include:
  • Growth failure
  • Loss of body fat
  • Loss of hair
  • Skin starts to look aged
  • Stiffness in the joints
  • Hip dislocation
  • Generalized atherosclerosis (cardio and heart disease)
  • Stroke
causes of Progeria
90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients. Progeria appears to occur without cause - it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.

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