What is progeria?

Causes and Symptoms

There are two major, unrelated types of progeria: Hutchinson-Gilford syndrome
, which begins in infancy, and Werner’s syndrome, which develops in late adolescence to young adulthood. Recessive inheritance has been demonstrated for Werner’s syndrome, whereas a dominant gene is a suspected source in Hutchinson-Gilford syndrome. Underlying causes have been difficult to determine, although an impaired ability to cope with free radicals appears to play a role in the degenerative course found in each disease.

Hutchinson-Gilford syndrome is characterized by superficial aspects of aging such as deteriorated skin, baldness, repeated nonhealing fractures, and vascular diseases, in addition to short stature and minimal subcutaneous fat. Arteriosclerosis and heart disease lead to a median age of death of thirteen. Werner’s syndrome occurs more frequently, with the following symptoms: short stature, thin extremities, a squeaky voice, cataracts, an increased risk of diabetes mellitus, heart disease, tumors, hearing loss, and the loss of bone and teeth. Death usually occurs by the middle forties. Neither disorder is simply accelerated aging. For example, the central nervous system is relatively unaffected in both diseases.

Treatment and Therapy

No known cure exists for either progeria disease. Suggested treatments include antioxidant supplements (for example, vitamin E), growth
hormone therapy, and gene therapy. Therapies have focused on providing a supportive environment and treating the symptoms to make the disorders less painful. Among these treatments are surgery, skin grafting (if skin ulceration occurs), and analgesic drugs.

Perspective and Prospects

Hutchinson-Gilford syndrome was first described by Jonathan Hutchinson in 1886. Hastings Gilford named the disorder progeria in a 1904 article. The first cases of Werner’s syndrome were reported in the 1950s.

There are hopes for an eventual genetic solution to progeria diseases. The only definitive prospect for sufferers, however, is premature death.

Bibliography

Judd, Sandra J., ed. Genetic Disorders Sourcebook: Basic Consumer Information About Heritable Disorders. 4th ed. Detroit, Mich.: Omnigraphics, 2010.

Gormley, Myra Vanderpool. Family Diseases: Are You at Risk? Baltimore: Genealogical Publishing, 2002.

Parker, James N., and Philip M. Parker, eds. Progeria: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, Calif.: Icon Health, 2004.

Lewin, Benjamin. Genes. 9th rev. ed. Sudbury, Mass.: Jones and Bartlett, 2008.

Lewis, Ricki. Human Genetics: Concepts and Applications. 10th ed. Dubuque, Iowa: McGraw-Hill, 2012.

Milunsky, Aubrey. Heredity and Your Family’s Health. Baltimore: Johns Hopkins University Press, 1992.

"Progeria." MedlinePlus, August 4, 2011.

Progeria Research Foundation. http://progeriaresearch.org/.