Loss of MAGEL2 and hypotonia in Prader-Willi syndrome

Children with PWS are hypotonic (floppy) at birth. Their poor muscle tone causes delays in sitting and walking and contributes to orthopedic problems such as scoliosis. Reduced endurance lowers the number of calories they can consume per day to...

Linking the cellular function of MAGEL-2 to its role in PWS

Background: MAGEL-2 is a gene frequently deleted or mutated in individuals affected with PWS. Furthermore, mice lacking MAGEL-2 display symptoms similar to those seen in PWS children. However, a critical barrier to our understanding of MAGEL-2’s link to PWS...

Gut microbiome in individuals with PWS

Prader-willi syndrome is a genetic disorder caused by loss of a portion of a copy of chromosome 15.  Common features include early problems with muscle weakness and feeding followed by occult weight gain without an increase in food consumption...

Evidence based approach to dietary management of PWS

Prader-Willi Syndrome (PWS) is a genetic disease characterized by failure to thrive and low muscle tone during infancy, followed by food-seeking, insatiable appetite and progressive obesity in childhood. The resulting increases in total body fat and decreases in muscle...