Definition
Prader-Willi syndrome is a rare genetic disease characterized by the appearance of physical, intellectual and behavioral abnormalities in patients who suffer from it.
The syndrome manifests itself from early childhood and affects both male and female individuals indifferently.
Causes
Prader-Willi syndrome is caused by a genetic mutation at the level of chromosome 15. However, it is not yet clear what the specific gene undergoes the mutation.
Symptoms
The symptoms induced by Prader-Willi syndrome vary according to the age of the patient.
In early childhood, the symptoms that can manifest are: muscle hypotonia, developmental delay, failure to respond to stimuli and strabismus. Furthermore, patients exhibit particular anatomical features, such as almond-shaped eyes, mouth turned downwards, narrowing of the head at the temples.
In children and adults, however, the following symptoms occur: obesity, hypogonadism, behavioral disorders, learning problems, reduced growth and development, speech difficulties and sleep disorders.
Information on Prader-Willi Syndrome - Drugs and Care is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Prader-Willi Syndrome - Drugs and Care.
drugs
Since Prader-Willi syndrome is a genetic disease, unfortunately, there are no drugs that can cure it. The treatment of the disease, therefore, is aimed only at reducing - as far as possible - the symptoms induced by it.
For the control of symptoms such as increased appetite and obesity, it is very important to contact a specialist who will establish an adequate diet for each patient.
Similarly, it is useful to consult physiotherapists and speech therapists to limit muscular hypotonia and language disorders that characterize the syndrome.
Furthermore, psychotherapy and occupational therapy are also essential to help patients improve their behavioral aspects.
The pharmacological treatment that can be undertaken in patients suffering from Prader-Willi syndrome is of the hormonal type and involves the administration of growth hormone (or somatotropin, or GH if you prefer) and sex hormones (since patients suffering from the disease present a deficit of these hormones).
Growth hormone (Somatotropin)
Growth hormone - also known as "somatotropin" - can be used in symptomatic therapy of Prader-Willi syndrome to promote growth and development, improve muscle tone and reduce body fat levels in patients affected by illness itself.
Generally, growth hormone treatment begins at 3-5 years of age.
Somatotropin (Genotropin ®) is available in pharmaceutical formulations for parenteral administration. The dose of medication usually used in children with Prader-Willi syndrome is 0.035 mg / kg of body weight per day, to be administered by subcutaneous injection. If deemed necessary, the doctor may decide to change the dose of somatotropin usually administered, so as to identify the ideal dosage that best suits the condition of each individual patient.
Testosterone and estroprogestinici
Testosterone and estroprogestinici are administered to patients suffering from Prader-Willi syndrome, in an attempt to restore the normal levels of sex hormones that - in these individuals - are decidedly lower than the norm.
Of course, testosterone will be given to male patients, while estroprogestinics will be given to female patients.
Generally, sex hormone therapy - in the context of Prader-Willi syndrome - begins during puberty.
The amount of active ingredients to be used, the frequency of administration, the route of administration and the duration of treatment should be established by the doctor on an individual basis for each patient.
