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What is Werner's Syndrome?

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  • Written By: J. Beam
  • Edited By: Bronwyn Harris
  • Last Modified Date: 29 November 2016
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Werner’s syndrome is a recessive autosomal disorder that is characterized by premature aging. Progeria refers to a group of premature aging diseases, such as Werner’s syndrome. Werner's syndrome is also sometimes classified as progeroid syndrome, and is caused by an inherited mutation of a gene affecting the 8th chromosome. Werner’s syndrome is a very rare condition that has only been reported in a small percentage of the world population.

Werner’s syndrome is named for Otto Werner, a German scientist who originally described the syndrome in his 1904 doctoral thesis. In 1997, the gene responsible for Werner’s syndrome was identified as RECQL2. Research has indicated that the syndrome is most prevalent in the Asian portion of the population, as a higher percentage of reported cases have originated from Japan than from any other country.

Individuals with Werner’s syndrome typically develop at a normal rate until they reach puberty. After the onset of puberty, they tend to age rapidly, and development, including the growth spurts experienced by normally developing teenagers, is absent. This typically results in shorter than normal statures in those suffering from Werner's syndrome. Other symptoms normally present in individuals affected by Werner’s syndrome include early loss and graying of the hair, premature thickening of the skin and cataracts in both eyes.

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Patients afflicted with Werner’s syndrome also tend to experience diseases and disorders that are typically associated with aging including various cancers, atherosclerosis and heart disease and sometimes diabetes mellitus. Werner patients may live through their late forties or into their fifties, but generally suffer from diseases that lead to death earlier in life than normal.

Though there is no cure for Werner’s syndrome, patients suspected of having the condition are tested for the mutated gene for proper management of health conditions typically affecting patients. Werner’s syndrome is extremely uncommon and typically not a concern, but those who suspect they may be carriers of the recessive gene can participate in genetic counseling before reproduction.

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