Prader-Willi Syndrome

What is Prader-Willi Syndrome?

Resulting in reduced muscle tone, decreased sex hormone levels, and overeating due to a lack of fullness and an inability to control hunger sensations, Prader-Willi Syndrome (PWS) is a rare genetic condition characterized by weight and muscle coordination issues. PWS is caused by a genetic abnormality generally affecting parental genes in chromosome 15 and often requires lifelong care and supervision.

What are the Symptoms of Prader-Willi Syndrome?

Children born with PWS often display signs of weak muscle tone and sometimes have difficulty nursing. Testicles may not descend on boys. Babies with PWS tend to have poor eye coordination and distinct facial features such as a noticeable narrowing of the head near the temples and almond-shaped eyes.

Additional signs of PWS may include:

  • Unexplained weight gain
  • Learning disabilities
  • Below average height
  • Poor motor skills
  • Poor responsiveness
  • Difficulty sleeping

How is Prader-Willi Syndrome Treated?

In addition to weight monitoring, treatment may include serotonin reuptake inhibitors to minimize obsessive-compulsive behaviors, sex hormone replacement, dietary counseling, and speech therapy. Diagnosis is based on presented symptoms and confirmed by a blood test. Growth hormone therapy may increase flexibility and help offset development and muscle coordination issues. Surgery is sometimes performed to correct genital abnormalities.

Physical and Behavioral Therapy

Muscle weakness is often addressed with physical therapy and exercise recommendations based on ability. Regular exercise has been shown to encourage normal motor development in younger children and develop more lean muscle mass in older children. Behavioral therapy is sometimes recommended to deal with emotional issues and teach lifestyle management strategies.

PWS isn’t curable, although the condition is considered manageable. Since most health issues linked to PWS are weight-related, regular exercise and monitoring of eating habits is often necessary to reduce the risk of obesity due to food-seeking tendencies. Some people with the condition experience eye problems and have a noticeable curvature of the spine (scoliosis).

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Last Reviewed:
October 09, 2016
Last Updated:
August 29, 2017
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