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Prader-Willi Syndrome

Published on Nov 18, 2015

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PRESENTATION OUTLINE

PRADER-WILLI SYNDROME

A CONGENTIAL EATING DISORDER
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Prader-Willi Syndrome is a congenital condition (present at birth) and is believed to be caused by an abnormality in the genes that occurs. It's a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed.

Photo by Fukecha Nabil

SYMPTOMS

  • Are usually small at birth but when developing into an adult they get more obese.
  • Seem floppy and feel like a rag doll when held
  • Show changes in the face, such as almond shaped eyes, and a small downturned mouth
  • Intellectual disability
  • Delayed motor development
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The Diagnosis
The diagnosis is confirmed by a drug test. The method of testing is a "methylation analysis", which detects 99% of cases including all of the major genetic subtypes of PWS.

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Causes of PWS
PWS is caused by the loss of genes in a specific region of chromosome 15. Prader-Willi syndrome occurs when the region of the paternal chromosome 15 containing these genes is missing.

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Complications of PWS

  • Type 2 Diabetes
  • Heart Disease and Stroke
  • Sleep Apnea
  • Liver Disease
  • Swollen Joint Pain
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TREATMENT

  • Improve physical health and agility
  • Improve height
  • Increase lean muscle mass and decrease body fat
  • Increase bone mineral density
  • Increase stamina
Photo by mrlins

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