March 15, 2012

Progeria.... Too young to already be old

Progeria is a rare genetic condition that produces rapid aging in children. Progeria is a fatal disease characterized by rapid aging in children.  It is rare; of every 4-to-8 million births worldwide, only one baby will have progeria, according to the Progeria Research Foundation. On average, children with the disease die at age 13. 

Premature aging that occurs at about 8 to 10 times the normal rate of aging. Because of this accelerated aging, a child of ten years will have similar respiratory, cardiovascular, and arthritic conditions that a 70-year-old would have. Progeria is the most radical of the ageing illnesses.
While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1904 by Dr. Hastings Gilford. 

Its name is derived from Greek and means "prematurely old". The condition is estimated to affect 1 in 4 million newborns with a total reported cases of 140 worldwide since it's been identified in 1886. This estimate has been based on the number of new children with Progeria which becomes annual born. More publications concerning boys than little girls have appeared, but the proportion of little girls and boys with progeria is in Europe at this moment nearly equal (11: 12) (Hennekam RC (2006). Hutchinson-Gilford Progeria Syndrome: review or the phenotype). Worldwilde there are 80 progeriachildren of which 24 children living in Europe (amongst them 4 in Belgium and 1 in the Netherlands). Children from all races and cultures around the world have been affected.  

Causes, incidence, and risk factors 
Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. It usually is not passed down through families. Rarely is it seen in more than one child in a family.
  • Growth failure during the first year of life
  • Narrow, shrunken or wrinkled face
  • Baldness
  • Loss of eyebrows and eyelashes
  • Short stature
  • Large head for size of face (macrocephaly)
  • Open soft spot (fontanelle)
  • Small jaw (micrognathia)
  • Dry, scaly, thin skin
  • Limited range of motion
  • Teeth - delayed or absent formation

Signs and tests
The health care provider will perform a physical exam and order laboratory tests. This may show:
  • Insulin resistance
  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
  • Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
  • Genetic testing can detect changes in the gene that causes progeria.
There is no specific treatment for progeria.



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