Wednesday, March 28, 2018

What is Prader-Willi syndrome?

Prader-Willi syndrome (PWS), an unusual genetic disorder that leaves one constantly hungry.

Prader-Willi syndrome is a debilitating condition that occurs in roughly 1 out of every 15,000 births. A nonprofit dedicated to PWS defines it as “a complex genetic disorder affecting appetite, growth, metabolism, cognitive function, and behavior.” The condition is marked by a dysfunction of the hypothalamus, which regulates hunger.

Scientists have narrowed down the cause of the condition to an abnormality of chromosome 15 but have yet to determine what sparks the abnormality in the first place.

The first signs of PWS begin in infancy, with weak muscles, difficulty feeding, and delayed development. By early childhood, the condition begins to manifest as an insatiable appetite, which often leads to overeating and, in turn, early-onset obesity. As people with PWS get older, they often experience intellectual disabilities (either mild or moderate) and exhibit specific characteristics such as small hands and feet, a narrow forehead, and short stature.

Due to their insatiable appetite, people with PWS are more likely to develop type II diabetes and to experience other obesity-related health conditions. According to the Foundation for Prader-Willi Research, the condition can be diagnosed through a blood test at birth, and early treatments such as human growth hormone (which people with PWS are deficient in) can help.

But as with many rare genetic disorders, scientists are still working to fully understand PWS. As it stands now, controlling the desire to overeat remains the biggest obstacle to a normal life.

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