Prader-Willi Syndrome
Prader-Willi Syndrome | |
---|---|
Specialty | Pediatrics, Medical genetics |
Symptoms | Poor muscle tone, low levels of sex hormones, chronic feeling of hunger |
Complications | Obesity, Type 2 diabetes, Sleep apnea |
Usual onset | Present at birth |
Duration | Lifelong |
Causes | Genetic abnormalities on chromosome 15 |
Risk factors | Genetic inheritance |
Diagnostic method | Genetic testing |
Treatment | Hormone therapy, controlled diet, physical therapy |
Medication | Growth hormone |
Prognosis | Varies |
Frequency | Rare |
Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by the loss of function of specific genes in chromosome 15. It is characterized by a variety of physical, mental, and behavioral problems. A key feature of PWS is a constant sense of hunger that usually begins at about 2 years of age.
Symptoms and Signs[edit | edit source]
People with Prader-Willi Syndrome typically have mild to moderate intellectual disability and learning disabilities. Physical symptoms include low muscle tone, short stature, incomplete sexual development, and a chronic feeling of hunger. The excessive appetite and lack of satiety lead to chronic overeating and obesity.
Genetics[edit | edit source]
Prader-Willi Syndrome is caused by the deletion or disruption of genes on the paternal chromosome 15. The specific genes involved are typically those that control metabolic, cognitive, and behavioral functions. The genetic mechanisms that cause PWS can include deletions, uniparental disomy (UPD), or imprinting defects.
Diagnosis[edit | edit source]
Diagnosis of Prader-Willi Syndrome is based on a clinical assessment followed by genetic testing to detect abnormalities in chromosome 15. Early diagnosis is crucial for managing the symptoms and preventing complications such as obesity and type 2 diabetes.
Management[edit | edit source]
Management of PWS involves a multidisciplinary approach including hormone therapy, a controlled diet, physical therapy, and interventions to manage food-seeking behaviors. Growth hormone treatment can improve physical strength and increase height in children with PWS.
Prognosis[edit | edit source]
The prognosis for individuals with Prader-Willi Syndrome varies. With early intervention and consistent management, individuals can lead a more controlled life, although they typically require lifelong support and medical care.
See also[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD