Prader-Willi syndrome is a rare genetic disorder characterised by altered facial appearance, overeating, behavioural disorders and sexual difficulty. Patients may also present with poor muscle tone. There is currently no cure for Prader-Willi syndrome, but the condition is treatable – such as exercise, occupational therapy, and hormone injections.
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Symptoms of Prader-Willi syndrome depend on which part of the body it affects, and the severity with which the patient has the condition – and whether the patient is at their child, adolescent or adult phases of the syndrome. Notwithstanding this, there are numerous hallmark symptoms that have come to typify this condition, such as:
Symptoms depend on whether the patient is an infant, child, adolescent or adult. Infants present with poor muscle tone, poor responsiveness, and deformed facial features. Children and adults present with symptoms such as overeating, underdeveloped sex features, poor growth and learning/behavioural disorders. Other symptoms may appear, particularly if the patient has become obese and has a high tolerance to pain – as this can mask other emerging conditions.
The cause of Prader-Willi syndrome is genetic. The precise genetic mutations are quite complex but are, nonetheless, well understood. Causes of Prader-Willi include:
Specifically, Prader-Willi syndrome is caused by the deletion of vital elements of chromosome 15. These deletions must be inherited on the paternalistic side in order for the condition to manifest in the child. Aside from gene deletions, Prader-Willi may also be caused through other genetic mechanisms: such as mutations or translocation of genes.
Approximately 1 in every 15,000 births is diagnosed with Prader-Willi syndrome. In the past, the condition was diagnosed by physical and mental examinations. Today things have shifted to genetic screening. In this regard, diagnostic options for Prader-Willi include:
Doctors are typically presented with Prader-Willi patients from a very young age and, from there, signs and symptoms can be detected. These include mild intellectual disability, the shape and conformity of the body, and overeating, among others. However, genetic testing is the mainstay of diagnosis, proving the syndrome with a 97 percent accuracy.
There is no cure for Prader-Willi syndrome, but the condition is both treatable and manageable. Treatments chosen depend on the age and status of the patient, and what symptoms they present to the doctor. Treatment options include, but are not limited, to:
Treatment is complex and varies on whether the patient is a child, adolescent or adult. Children typically undergo exercise and occupational therapy treatments – in order to enhance muscle tone. Growth hormone injections are standard treatments for Prader-Willi, as it helps to encourage growth and reduce appetite. Patients are also encouraged to eat healthily in order to stave off the high risk of obesity that tends to occur.
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