Prader-willi syndrome

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Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a complex genetic disorder affecting multiple parts of the body. Pronounced as Praa-der Will-ee Syndrome, the condition is named after the Swiss doctors Andrea Prader and Heinrich Willi who first described it in 1956.

Etymology

The syndrome is named after Andrea Prader (1919–2001), a Swiss pediatrician, and Heinrich Willi (1900–1971), a Swiss physician, who together with Alexis Labhart, a Swiss internist, first described the condition in 1956.

Definition

Prader-Willi Syndrome is a genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.

Symptoms

Symptoms of Prader-Willi Syndrome are divided into two stages: the first stage is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. The second stage is characterized by compulsive eating, weight gain, intellectual disability, and often the development of 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. Most cases of Prader-Willi Syndrome (about 70%) occur when the region of the paternal chromosome 15 containing these genes is deleted.

Treatment

There is no cure for Prader-Willi Syndrome. Treatment aims to manage the symptoms and prevent complications. It includes a balanced, low-calorie diet, physical activity, and treatments to manage other symptoms and complications, such as growth hormone therapy and sex hormone therapy.

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