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Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)

Hutchinson-Gilford Progeria Syndrome (HGPS) is the most common type of Progeria, a genetic condition affecting only 1 out of every 4 to 8 million newborn children. Named after the English doctors who first diagnosed this condition, HGPS, or simply Progeria, is a fatal syndrome resulting from a mutation in the gene LMNA.

This mutation affects the protein Lamin A, which helps stabilize a cell’s nucleus. As the body’s cells destabilize, the disease progresses and is evident when the child appears to age more quickly than normal, giving it the Greek name “Progeria” which means “prematurely old.”

Signs of Progeria
Children are born appearing normal and healthy but begin to show signs of Progeria as early as 18-24 months. The trademark feature of the disease is accelerated aging and the visible characteristics of Progeria are common in children from all ethnicities. Death is generally caused by heart disease and occurs between 8 and 21 years old, with the average age of death at 13 years old.

Visible signs include:

  1. Slow growth rate
  2. Hair loss
  3. Loss of body fat
  4. Aging skin
  5. Stiff joints
  6. Hip dislocation

Internal indications may include:

  1. Generalized atherosclerosis (hardening of the arteries)
  2. Cardiovascular disease
  3. Stroke

Risk of Disease
While parents may be carriers for some forms of Progeria, the most common type, HGPS, does not favor one gender or race over another and is not passed through either of the parents’ genes. This type of genetic mutation, called a sporadic mutation, happens immediately prior to conception and can occur in either the sperm or the egg.

Diagnosis
Because the mutation causing HGPS is random, having one child with HGPS does not affect the chances of those same parents having another child with HGPS. Genetic testing can diagnose the syndrome either during pregnancy or after the child is born and begins to display signs of Progeria, but because the disease is extremely rare, provides no indications prior to childbirth and is not passed through the parents, prenatal genetic testing for Progeria is rare.

The Progeria Research Foundation (PRF) also conducts genetic testing to examine the mutated gene now that the gene responsible for the syndrome has been identified. More accurate testing leads to earlier diagnosis and appropriate treatment for affected children.

Treatment Options
Through the efforts of PRF, a potential drug treatment is currently undergoing a clinical trial to determine its effects on children with the syndrome, but other than improving the lifestyle of these children, no drug treatments or cure are currently available. PRF provides comprehensive support for children with Progeria and their families.

Once diagnosed, a child needs physical therapy and ongoing care to monitor nutrition and cardiac health. Thanks to donations, PRF owns and operates a diagnostic testing program, maintains online medical databases, drives fundraising efforts and provides workshops and medical support for doctors, researchers, patients and families.

Additional Information
Please contact the Progeria Research Foundation for more information:

www.progeriaresearch.org

The Progeria Research Foundation
P.O. Box 3453
Peadbody, MA 01961-3453
(978) 535-2594

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