Margarida Maia, PhD, science writer —

Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other rare diseases, a national survey in China has found. In the study, however, stronger social support — in the form of social interaction — was linked to better quality of…

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.