Author Archives: Marisa Wexler MS

Case Report Demonstrates Presence of Polyneuropathy In LOPD

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in LOPD patients can worsen disability and needs special attention and care, such as physiotherapy. The report with those findings, “…

Study Presents Clinical, Genetic Landscape of Pompe Disease

A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…