A test that measures walking speed over 10 meters (33 feet) offers a simpler and less demanding alternative to the commonly used six-minute walk test for evaluating walking performance in Pompe disease, and may be a better option for patients who have difficulty covering longer distances. In a French…
The strength of hip muscles and gait wherein only one leg is in contact with the ground were identified as key parameters that affect walking and falls in people with late-onset Pompe disease (LOPD). Both could help assess the effectiveness of new therapies and should be “priority targets for…
I wrote a column this spring about my 5-year-old son, Cayden, needing to see an orthopedic specialist again. Well, we finally had that appointment late last month, with a doctor he hadn’t seen before. It didn’t go as well as I’d hoped. When Cayden’s metabolic specialist sent the…
A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…
One of the symptoms of Pompe disease is muscle weakness. Due to this, many children who have been diagnosed with infantile-onset Pompe disease will be required to wear some type of orthotic braces that are specially designed by an orthotist. When my son, Cayden, was about 15 months old,…
Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed to confirm these findings and “to obtain more…
Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study shows. Despite these results, ERT improved lung function when compared to the predicted outcome without ERT, and some patients responded…
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