Prader-Willi Syndrome
What is Prader-Willi syndrome?
Prader-Willi syndrome is a rare genetic disorder that results in a number of physical, mental, and behavioral problems that all stem from a constant sense of hunger beginning at about two years of age. The obesity that results from this hyperphagia (never feeling full) and constant eating cause many other complications of the condition, intellectual impairment, and learning disabilities.What causes Prader-Willi syndrome?
Prader-Willi syndrome is a genetic disorder, caused by an error in one or more genes located in a particular region of chromosome 15. Either paternal genes on chromosome 15 are missing, two copies of chromosome 15 were inherited from the mother and none from the father, or there’s some error in paternal genes on chromosome 15. Overall, these errors disrupt the normal functions of the hypothalamus, the part of the brain responsible for releasing hormones. In most cases, the error in chromosome 15 is not inherited, but rather caused by a spontaneous genetic error.What are the symptoms of Prader-Willi syndrome?
Symptoms of Prader-Willi syndrome vary among individuals, but generally they slowly change over time from childhood to adulthood. Signs and symptoms present at birth include:- Poor muscle tone
- Distinctive facial features
- Poor sucking reflex
- Generally poor responsiveness
- Underdeveloped genitals
- Food craving and weight gain
- Underdeveloped sex organs and poor growth and physical development
- Cognitive impairment and delayed motor impairment
- Speech problems
- Behavioral problems
- Sleep disorders
How is Prader-Willi syndrome diagnosed?
Usually, doctors will suspect Prader-Willi syndrome based on an observation of the characteristic signs and symptoms of the disorder. A blood test can be made after to look at the patient’s chromosomes and confirm a diagnosis. Early diagnosis can improve the quality of life for people with Prader-Willi syndromeWhat are the available treatments for Prader-Willi syndrome?
Specific treatments will vary depending on each particular case of Prader-Willi syndrome, but generally, the follow therapies are needed:- Good nutrition for infants
- Human growth hormone treatment to increase growth, improve muscle tone, and decrease body fat
- Sex hormone treatment
- Weight management
- Treatment of sleep disturbances
- Behavioral and physical therapy
Where can I find more information on Prader-Willi syndrome?
Prader-Willi Syndrome Articles
A New Collaboration Will Support Research of Prader-Willi Syndrome and Other Rare Diseases
Trudy Horsting
March 9, 2021
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Technology to Treat Prader-Willi Syndrome Has Been Licensed by Tonix Pharmaceuticals
Kendall Mason
February 23, 2021
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Soleno Hosts Webinar on Prader-Willi Syndrome DCCR Treatment Data
James Moore
February 12, 2021
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NORD Webinar Gives Insight Into Starting a Nonprofit and Patient Registry
Jessica Lynn
December 21, 2020
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CARE-PWS Results Announced on LV-101 for Prader-Willi Syndrome
Jessica Lynn
August 11, 2020
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Prader-Willi Syndrome: The Future Looks Promising, Expert Claims
James Moore
April 30, 2020
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