Early diagnosis and treatment are the most important markers that decide the prognosis and life expectancy of Prader-Willi syndrome. Read on to know more on this rare genetic disorder.
The excessive obesity, lack of growth, short stature, etc., can actually be symptoms of the Prader-Willi Syndrome (PWS). This is a rare, congenital genetic disorder which can be found in 1 among 15,000-20,000 babies, in any part of the world. The condition, which is believed to be formed during conception, occurs due to deletion of chromosome 15 (q 11-13).
What causes Prader-Willi syndrome?
As it is a genetic disorder, it is caused due to abnormality in the genetic structure. No one, for now, can tell for sure what causes the actual abnormalities in the chromosome. However, it is believed that a genetic mutation, that was skipped in the parent, can be expressed in the child. The abnormalities in the genes are caused due to chance mutations.
Is it inherited?
Although the cause of this syndrome is chromosomal abnormality, it’s not a hereditary disease. Patients suffering from this condition have been found with no history of this genetic disorder in any of the ancestors. Secondly, it should also be noted that no external factor can cause this genetic disorder.
What are the symptoms of Prader-Willi syndrome?
Excessive obesity, short stature, excessive appetite, smooth and soft skin, sparse hair, delayed motor/intellectual development, delayed puberty, infertility, abnormalities in development of sexual organs, sleep disorders, lack of energy, etc., are the signs and symptoms of Prader-Willi syndrome. Obesity and short stature are the recognizing symptoms found at an early age in this rare genetic disorder. The facial symptoms appear only in adulthood.
What are the treatment options?
Genetic or prenatal testing are the methods that help in the diagnosis of this genetic disorder. As of now, use of the growth hormone or the Human Growth Hormone (HGH) is the most effective treatment method. This hormone is administered to children to treat the stunted growth. At the same time, it is essential to reduce obesity by following a diet and exercise routine since childhood. In adulthood, people can also consider going for corrective surgeries to correct the abnormalities in the sexual organs if possible.
What is the life expectancy of Prader-Willi syndrome?
There is no exact answer to this question. If the person follows a diet and keeps his weight under control (reduce obesity completely), he can live a full life. However, it is very important to keep weight under control as severe obesity can lead to lung and heart failure, and even death. People suffering from this disorder have excessive food cravings and need to curb it. If proper treatment is undertaken, one can live longer.
Can Prader-Willi syndrome be cured/prevented?
Unfortunately, this condition cannot be cured completely. It is possible to reduce the severity of symptoms and live a normal life, if proper treatment is followed. At the same time, as there is no known cause for the condition, there are no preventive measures. It should also be noted that just like this condition, most of the genetic disorders in children and adults cannot be prevented.
As a concluding note, one should remember that several other factors like the person’s weight, habits, lifestyle, etc., contribute in the life expectancy. It is expected to take proper and ongoing treatment to increase the life expectancy.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.
