Progeria

What is Progeria?

Progeria is the better known name for Hutchinson-Guilford Progeria Syndrome or HGPS. It is sometimes called “rapid aging disease.” This is an extremely rare but always fatal condition that affects all races and economic backgrounds.

Progeria is caused by a mutation in the LMNA gene. Why some children get this gene mutation and not all children is unknown. Progeria is not thought to run in families. The LMNA gene helps the body make a very important protein called Lamin A which helps keeps the nucleus of a cell from falling apart. Patients with progeria lack Lamin A.

What are the Symptoms of Progeria?

Babies are born normal and continue to be normal until they start showing these symptoms between 10 months and two years old:

  • Suddenly stops growing or grows very slowly.
  • Voice becomes more high-pitched.
  • Baldness, which may make head look abnormally large.
  • Body fat melts away, including facial fat which gives the face a wizened appearance.
  • Joint stiffness which can lead to full-flown arthritis.
  • Onset of osteoporosis.
  • Onset of insulin resistance.
  • Deafness in one or both ears.
  • Easily dislocated hips.
  • Onset of heart disease such as angina or enlarged heart
  • One or more strokes.
  • Skin appears like that of an old person instead of a toddler

How is Progeria Treated?

There is no cure for Progeria. Anyone with this disease will die most often by the age of 14. Current medications and therapies are to help ease the symptoms such as arthritis and heart disease that progeria victims suffer from. What kills a progeria patient is heart disease or complications from heart disease.

The news is full of supposed medical treatments to prolong the lives of progeria patients, but all of these drugs such as lonafarnib are still in the clinical research phase. Participating in such a study may be possible as a last-ditch treatment. These drugs are not cures, but may add one or more years to a child’s life.

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Last Reviewed:
October 09, 2016
Last Updated:
August 25, 2017