What it is
Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of genes that are normally active only on the chromosome 15 inherited from the father (the 15q11-q13 region). It produces low muscle tone in infancy, then an insatiable appetite (hyperphagia) and obesity, short stature, incomplete sexual development, and learning difficulties.
Signs and symptoms
Global developmental delay
Developmental and cognitive delay is one of the defining features of PWS, affecting motor milestones, speech, and learning across childhood.
Polyphagia
An insatiable appetite (hyperphagia) is the central feature of PWS after early childhood. It drives overeating and, untreated, severe obesity, and is the main target of current drug therapy.
Sleep apnea
Obstructive sleep apnea is common in PWS, driven mainly by the low muscle tone and a narrow upper airway, and warrants monitoring especially in infancy.
Obesity
Because the appetite signal never switches off, people with PWS are at high risk of morbid obesity and its complications, which is why appetite and weight management are central to care.
Generalized hypotonia
Low muscle tone (hypotonia) is usually the first sign of PWS, present from infancy. It contributes to a weak suck and feeding difficulty in newborns before the appetite changes appear later.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Diazoxide choline extended-release
Diazoxide choline extended-release (Vykat XR) is the first medicine the FDA has approved specifically for the hyperphagia of PWS, for people aged 4 and older. It is a once-daily tablet, not a cure, aimed at the relentless appetite rather than the underlying genetic cause.
Used to help with: Prader-Willi syndrome.
“Food and Drug Administration (FDA) approved Vykat XR (diazoxide choline-extended release tablets) for the treatment of hyperphagia in individuals aged 4 years and older with Prader-Willi Syndrome (PWS).”
Recombinant human growth hormone
Recombinant human growth hormone is a long-standing part of PWS care, improving growth, height, and body composition. In specialist cohorts essentially all patients have a history of growth hormone treatment.
Used to help with: Prader-Willi syndrome.
“All participants (100%) had a history of growth hormone treatment; 62.5% exhibited the deletion subtype.”
Turn this into questions for your doctor
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How to read the evidence labels
Where this comes from
This guide is built from 5 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.