Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex genetic disorder that affects many parts of the body. This condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes.

Causes

Prader-Willi syndrome is caused by the loss of function of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. For most genes, both copies are active, or "turned on," in all cells. In the case of Prader-Willi syndrome, the region of chromosome 15 that is critical to the syndrome is normally active only on the copy inherited from the father. If the paternal copy is missing or damaged, the genes are not active and symptoms of the syndrome occur.

Symptoms

The symptoms of Prader-Willi syndrome are likely due to dysfunction of a part of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions, and fertility.

Treatment

There is currently no cure for Prader-Willi syndrome, and most research is focused on treating the symptoms. For this reason, a multidisciplinary team of healthcare providers is often involved in the care of a person with Prader-Willi syndrome. This team may include endocrinologists, geneticists, dietitians, physical and occupational therapists, speech therapists, social workers, and mental health professionals.

See also

• Genetic disorders
• Obesity
• Type 2 diabetes

References

• Prader-Willi Syndrome Association (USA). "What is Prader-Willi Syndrome?" Retrieved from https://www.pwsausa.org/what-is-prader-willi-syndrome/
• National Institutes of Health. "Prader-Willi Syndrome." Retrieved from https://www.nichd.nih.gov/health/topics/prader-willi