Newborn screening (NBS) for Pompe disease in North Carolina identified more babies with presumed late-onset Pompe disease (LOPD) than previous estimates suggested, a study found. Among more than 228,000 newborns screened over 20 months, 52 tested positive for possible Pompe. After additional testing, about one-third were ultimately classified…
Discussion
More than 8 in 10 people with late-onset Pompe disease (LOPD) reported chronic nociceptive musculoskeletal pain, or pain affecting the muscles, bones, and surrounding tissues caused by damage or strain, a new study found. However, pain was not associated with muscle weakness, walking ability, or structural changes in the…
Discussion
A few days ago, I stumbled across Caroline’s old infusion backpack tucked away in the far corner of her closet. For a second, I barely recognized it — soft and pastel, the color of cotton candy, and shaped like a unicorn cat — it was so clearly a piece of…
Becoming educated and informed about Pompe is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnist’s words of wisdom to help you along on your Pompe journey.
There is no cure for Pompe yet, but there are treatments that can help manage the disease. Learn more about current therapeutic approaches here.
Get regular updates to your inbox.
