What´s Prader-Willi Syndrome?

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Prader-Willi Syndrome, named after the doctors who described it in 1956, is a rare genetic mutation involving missing genes on chromosome 15. The syndrome has two distinct stages and affects the growth and development in patients diagnosed with the disorder. The most major symptom of this disorder is the irregular appetite causing severe weight gain. Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity and affects a patient for their entire life span. The syndrome occurs in all races and equally between both males and females however it is not inherited in 99% of cases. Prader-Willi Syndrome is rare with only 1 in 20,000 people born with the mutation. Normally offspring inherit one copy of chromosome 15 from their mother and another from their father, however in patients diagnosed with Prader-Willi Syndrome some of the genes on chromosome 15 are missing. The mutation is caused by lack of active genetic material in the region of chromosome 15 that affects Prader-Willi Syndrome (15q11- q13). There are three possible mutations to cause this inactivity. The most common cause is the deletion of the part of chromosome 15 that is inherited from the father, occurring in 70% of cases. In 25% of cases uniparental disomy (UPD) occurs and two copies of the chromosome are received from the father and none from the mother. 5% of patients diagnosed with Prader-Willi syndrome have an ‘imprinting mutation’. This is a form of translocation and means that the sequences of the genes on chromosome 15 are altered. Prader-Willi Syndrome has two distinct stages. The first stage begins at birth and lasts until the patient is roughly two years of age. When a baby with Prader-Willi Syndrome is born they are sometim... ... middle of paper ... ...ve a positive effect on developmental behaviour. Behavioural therapy has also been recommended to help those suffering from Prader-Willi Syndrome to control their emotions. People with this mutation who keep to a strict diet and use treatments to limit many of the factors associated with this disorder are likely to enjoy a full life and reach normal life expectancy. Prader-Willi Syndrome is a rare genetic disorder, caused by a mutation on chromosome 15 where some of the genes are deleted in a particular region of the chromosome. Prader-Willi Syndrome causes an irregular appetite and compulsive eating as well as affecting the growth and development of a patient. There is currently no cure for Prader-Willi syndrome however there are treatments to ease the symptoms associated with the disorder and with strict diet patients are able to improve their quality of life.

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