Case study describes woman's late-onset Pompe diagnosis

Case study describes woman's late-onset Pompe diagnosis

A woman in Canada with atypical and slowly progressive onset of muscle weakness affecting her eyelids, face, and throat muscles had shown symptoms for decades before being diagnosed with late-onset Pompe disease (LOPD), according to a study describing her case. Doctors considered several neuromuscular diseases before arriving at the Pompe disease diagnosis based on broad genetic testing and a dried blood spot. This test detects the activity of t…