General
Prader–Willi syndrome (PWS) — also known as Prader–Labhart–Willi Syndrome, Willi–Prader Syndrome, or Prader–Willi–Fanconi Syndrome — is a rare genetic disorder in which the structure of genes on chromosome 15 is disrupted. It was first described in 1956 by Andrea Prader and Heinrich Willi. PWS affects approximately 1 in 10,000 to 1 in 25,000 newborns. Worldwide, about 400,000 people live with this condition.
Diagnosis:
Early diagnosis and early treatment improve prognosis. PWS is diagnosed through genetic testing, which is recommended in children with significantly reduced muscle tone. The basis of diagnosis is a genetic test based on methylation analysis, which identifies a defective or missing gene sequence on chromosome 15.
Treatment:
It is a genetic disorder, and therefore incurable; treatment is symptomatic (alleviating symptoms). During childhood, patients undergo exercises to help improve muscle tone. Speech therapy is also performed. The biggest problem remains severe obesity associated with a chronic feeling of hunger. For short stature, daily injections of recombinant growth hormone are used, which support growth and increase muscle mass and may reduce food intake and the constant feeling of hunger.
- nízke svalové napätie
- malý vzrast
- zlá koordinácia pohybov
- oči mandľového tvaru, úzka horná pera, vysoké čelo
- slabý plač
- spánková dysbalancia
- mentálna retardácia
- chronický pocit hladu a s tým súvisiaca obezita
- apatia, ťažkosti s dýchaním v dôsledku nízkeho svalového tonusu
- oneskorenie reči
- oneskorená puberta
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