HEALTH

Prader-Willi syndrome, what it is caused by and what the symptoms are

Prader-Willi syndrome is a rare genetic disorder and is considered one of the main causes of syndromic obesity.

Prader-Willi syndrome is a genetic abnormality involving certain genes located at the level of the long arm of chromosome 15 that is inherited from the father. It is however a random genetic error, which is not hereditary. It can be diagnosed with a genetic analysis by means of a simple blood test.

The symptoms of the disease can vary greatly from patient to patient, but there are generally two stages.

freepik
A rare genetic disease
Prader-Willi syndrome is a rare genetic disorder and is considered one of the main causes of syndromic obesity. Prader-Willi syndrome is a genetic abnormality involving certain genes located at the level of the long arm of chromosome 15 that is inherited from the father. It is, however, a random genetic error, which is not hereditary.
freepik
Symptoms and how the diagnosis is obtained
Prader-Willi syndrome can be diagnosed with a genetic analysis using a simple blood test. The symptoms of the disease can vary greatly from patient to patient, but there are generally two phases. The first phase, the neonatal and early childhood period, is characterised by a significant reduction in muscle tone. In the second phase, which generally begins between the second and fourth year of life, there is a pathological increase in the sense of hunger.
freepik
What are the risks of a late diagnosis
When Prader-Willi syndrome is not diagnosed in a timely manner, not controlling the amount of calories consumed can lead to the development of severe obesity, resistant to dietary and pharmacological treatment, which can then also cause serious cardiorespiratory, metabolic, hepatic and osteoarticular complications.
freepik
Further complications
Realising that one has Prader-Willi syndrome as early as possible is helpful in avoiding further complications, in detail: hormonal dysfunctions, reduced sensitivity to pain, behavioural disorders, eye diseases, orthopaedic pathologies, intellectual disability or dysmorphisms.
freepik
Therapies
Intervening in a multidisciplinary manner can be useful for the patient to obtain better benefits from therapeutic treatments. Interventions are made, for example, from a dietary point of view, but also from a hormonal point of view, with appropriate hormone therapy allowing adequate growth in stature. Multidisciplinary treatment would also include physiotherapy, to improve movement capabilities and muscle strength.
news of hollywood's great actors
17/06/2024
Informativa ai sensi della Direttiva 2009/136/CE: questo sito utilizza solo cookie tecnici necessari alla navigazione da parte dell'utente in assenza dei quali il sito non potrebbe funzionare correttamente.