Prader-Willi syndrome

Generality

Prader-Willi syndrome is a rare genetic disorder that causes physical, behavioral and intellectual abnormalities. The most characteristic clinical signs are obesity (and related pathologies) and reduced muscle tone.

Known since 1956, Prader-Willi syndrome is due to a mutation of chromosome 15, but it is not yet clear which genes are exactly involved.
Physical examination is usually sufficient to establish the correct diagnosis, but reliable genetic tests can also be performed.
Unfortunately, there is still no definitive therapy; however, some pharmacological and behavioral countermeasures can limit the associated symptoms.