The Cause

• A mutation in the gene known as LMNA ("lamin-a") is the known cause of progeria syndrome, according to the Progeria Research Foundation. The LMNA gene produces a protein called Lamin A. This protein holds a cell's nucleus together. A child with progeria syndrome has a abnormal version of the Lamin A protein, making the cell nuclei unstable, which is now thought to lead to premature aging.
  
  

Rarity

• According to the Progeria Research Foundation, progeria syndrome is found in about one in every 4 million to 8 million newborns. There is no prevalence based on sex or race. Progeria syndrome is found in infants all over the world.
  
  

Signs of Progeria Syndrome

• Children with progeria syndrome look healthy when they are born, but between 18 and 24 months of age they begin to exhibit characteristics of rapid aging. Some of the signs of progeria syndrome include loss of body hair and fat, joint stiffness, failure to grow, hip dislocation, enlarged head, small jaw, heart disease and delayed growth of or absence of teeth. Most children with the condition have a similar appearance.
  
  

Diagnosis

• A child will initially be evaluated for progeria syndrome in a clinic. The initial evaluation will examine the child's appearance and medical history. A child may also undergo examinations such as cardiac stress testing, which can detect atherosclerosis of blood vessels (a common sign of rapid aging). After the clinical evaluations, the child's blood will undergo a test that looks for the mutation in the LMNA gene.
  
  

The Course of Progeria Syndrome

• Children affected by progeria syndrome are inclined to developing premature and progressive heart disease. As they grow into late childhood and early adolescence, affected children are increasingly at risk for developing high blood pressure and an enlarged heart. They are also likely to experience chest pain, strokes and heart failure. They ultimately die of heart disease between the ages of 8 and 21.