《PWSPresentation-Prader-Willi Syndrome Association (USA)》内容预览

Prader-Willi Syndrome

Increased Awareness of PWS Means…

More Diagnoses and Earlier Identification which leads to…
Early Intervention Services and Appropriate Treatment and Management Strategies which leads to…
Improved Quality of Life for Individuals Born with the Syndrome and their Families

Documented cases of PWS go back to the 17th Century

In 1956, PWS was identified as a constellation of symptoms by Swiss physicians A. Prader, H. Willi and A. Labhart
PWS is a lifelong, life-threatening, non-inherited genetic disorder that results from a defect on Chromosome 15
PWS occurs in 1 in 12,000-15,000 births, or approximately 25,000 people in U.S. Of these, 75-80% are either undiagnosed or unknown to PWSA(USA).
In NV, there are only 39 known cases of PWS; 13 of which are in the greater Las Vegas area. There are an additional 70-75% either undiagnosed or unknown to PWSA(USA).
PWS equally affects all races and both sexes.

Two major types of PWS – Deletion (70%); Uniparental Disomy (UPD) (25%); Other (5%)
PWS is now easily diagnosed with a blood test
PWS is one of the 10 most common conditions seen in genetics clinics, and is the most common genetic cause of obesity
Without intervention, PWS leads to obesity-related medical problems and eventual premature death
 

《PWSPresentation-Prader-Willi Syndrome Association (USA)》原文下载：