Submitted by Armen Hareyan on Sep 19th, 2007
Severe obesity and obesity-related problems arei the major medical problem associated with Prader-Willi syndrome.
Who has Prader-Willi syndrome (PWS)?
Anyone can be born with Prader-Willi syndrome (PWS). Some individuals may have acquired PWS due to brain trauma.
What is Prader-Willi syndrome?
Prader-Willi syndrome is a complex genetic disorder affecting appetite, growth, metabolism, cognitive function and behavior. It is typically characterized by low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and the hallmark characteristics - involuntary and uncontrollable chronic feelings of hunger and a slowed metabolism that can lead to excessive eating and life-threatening obesity.
Those who have Prader-Willi syndrome need intervention and strict external controls, including padlocking access to food, to maintain normal weight and to help save their lives.
When does Prader-Willi syndrome occur?
It is estimated that one in 12,000 to 15,000 people has PWS. Although considered a "rare disorder, PWS is one of the most common conditions seen in genetics clinics and is the most common genetic cause of obesity that has been identified.
Where is Prader-Willi syndrome found?
PWS is found in people of both sexes and all races worldwide.
Why does Prader-Willi syndrome occur?
Most cases of PWS are attributed to a spontaneous genetic error that occurs at or near the time of conception for unknown reasons. In a very small percentage of cases (2 percent or less), a genetic mutation that does not affect the parent is passed on to the child, and in these families more than one child may be affected. A PWS-like disorder can also be acquired after birth if the hypothalamus portion of the brain is damaged through injury or surgery.
How does Prader-Willi syndrome work?
Basically, the occurrence of PWS is due to lack of several genes on one of an individual ,, s two chromosome 15s "the one normally contributed by the father. In the majority of cases, there is a deletion "the critical genes are somehow lost from the chromosome. In most of the remaining cases, the entire chromosome from the father is missing and there are instead two chromosome 15s from the mother (uniparental disomy). The critical paternal genes lacking in people with PWS have a role in the regulation of appetite. This is an area of active research in a number of laboratories around the world, since understanding this defect may be very helpful not only to those with PWS but to understanding obesity in otherwise normal people.
People with PWS have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety. While the problem is not yet fully understood, it is apparent that people with this flaw never feel full; they have a continuous urge to eat that they cannot learn to control. To compound this problem, people with PWS need less food than their peers without the syndrome because their bodies have less muscle and tend to burn fewer calories.
Who to contact for more information:
Contact the Prader-Willi Syndrome Association (USA) (PWSA (USA)) at (800) 926-4797 toll-free in the US or (941) 312-0400 or visit their website at www.pwsausa.org PWSA (USA), a 501(c)(3) organization, is the only national membership organization that is dedicated to improving the lives of all persons afflicted with Prader-Willi syndrome and supporting them at every stage of life through research, education, support and advocacy. Headquartered in Sarasota, FL, it was formed in 1975 to provide a vehicle of communication for parents, professionals, and other interested citizens. Hospitals, physicians, and parents from all over the world consult with PWSA (USA) with medical emergencies and questions daily.
Source:
Prader-Willi Syndrome Association 