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Prader-Willi syndrome (PWS) is rare Genetic Disease. About 500 cases of the disease have been diagnosed in Poland. It occurs at a rate of 1 in 10-25 thousand. deliveries.
Prader-Willi Syndrome: Genes are to blame
The disease is often caused by a defect in the SNRPN gene chromosome Father’s origin. The second common cause is the splitting in the genetic material of the mother, that is, as experts explain, the condition in which each of the homologous chromosomes comes from only one of the parents.
symptoms
The disease manifests itself already in childhood, and it can be cured as soon as possible. Doctors refer to it new born Those with Prader-Willi syndrome have decreased muscle tone, flaccidity, and an abnormal body build: very small feet and hands. Such children develop worse: they sit later, crawl, stand up, and often fall when walking. They also have disorders related to the central nervous system and Metabolism. Babies are usually born with a low birth weight of less than 2.5 kg. They also gain poor weight – doctors explain. Uncontrolled appetite appears at about 3-4 years of age.
How do you treat Prader-Willi syndrome?
In the past, patients with Prader-Willi syndrome did not live to the age of 30 years, and died from complications of obesity, weighing between 200 and 300 kg. Currently, the patients are thin but they have to follow a strict diet. Tailored lists and exercise plans that apply to them throughout their lives. People are also given growth hormone to change their body composition, including the amount of body fat.
People do not understand patients with the syndrome
Doctors assert that the disease and associated obesity have nothing to do with willpower or good habits. The brain is “blind” to signals coming from the digestive system. Unfortunately, the environment often does not understand this, and instead of helping, these people are faced with ridicule and ridicule. However, it is difficult to explain the disability, which consists in the need to limit free access to food – it indicates this.
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