General Information About Prader-Willi Syndrome
Disease Details and Frequently Asked Questions
It is a genetic disease characterized by physical developmental delay and a lifelong, insatiable feeling of hunger due to the malfunctioning of the hypothalamus (the appetite and hormone center) in the brain.
When babies are born, they are excessively floppy (hypotonia), their cries are very weak, and because they lack a sucking reflex, they have to be fed through special tubes.
After the age of 2, the brain's satiety center malfunctions. Patients never feel full; they constantly look for food, raid the refrigerator, and even show a tendency to eat food from the trash.
If hyperphagia (overeating) is not stopped, children rapidly reach morbid (fatal) obesity. Early losses from obesity-related diabetes and heart attacks can occur; therefore, strict physical measures, such as putting locks on kitchen cabinets, are essential.
Clinically, sucking difficulties followed by obesity raise suspicion. Definitive diagnosis is made by specific Genetic Methylation tests showing the deficiency of genes coming from the father on the 15th chromosome.
There is no medication that curbs appetite or cures the disease. Daily Growth Hormone (GH) injections are administered to promote linear growth and increase muscle mass. The most important treatment is zero-tolerance dietary control maintained under the family's strict supervision.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
