Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.

[werner syndrome]

Werner syndrome (WS ) is an autosomal recessive disorder of progeroid symptoms and signs . It is caused by mutations in the WRN gene , which encodes a RecQ DNA helicase . The aim of this study was to revise the diagnostic criteria for Japanese Werner syndrome .A nationwide epidemiological study was carried out from 2009 to 2011 , involving 6921 surveys sent to hospitals with more than 200 beds to assess existing WS diagnostic criteria , as well as additional signs of high incidence on the basis of clinical experience with WS .T he existing diagnostic criteria were reviewed , and signs with >90 % incidence were listed as cardinal signs . Several criteria were added , including genetic testing and calcification of the Achilles tendon , whereas criteria that are practically difficult to obtain , such as measurement of urinary hyaluronic acid , were omitted .The 26 -year -old diagnostic criteria for WS were revised on the basis of the results of a nationwide epidemiological study . The proposed revised criteria will facilitate simpler , faster and more robust diagnosis of WS in the Japanese population .

Diseases
Validation

Diseases presenting "which encodes a recq dna helicase" symptom

werner syndrome

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