Children with classic infantile Pompe disease treated for years with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S) exhibit muscle weakness in their lower legs, feet, and hands in addition to the proximal muscle weakness that typifies late-onset Pompe,…
muscle weakness
While Pompe disease can affect the heart, respiratory system, and other functions, its chief symptom is muscle weakness. Exercise and physical therapy can help patients preserve mobility for as long as possible. Following are answers to some frequently asked questions about Pompe disease and exercise. How does…
Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease,” was published in the journal Neurological Sciences. LOPD is a genetic disorder…
New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making early recognition of these anomolies an important step to providing the best care for these patients, a study says. The cases were described by researchers from…
Recent Posts
- First patient dosed in LOPD gene therapy trial
- Study finds milder heart issues in late-onset Pompe disease
- I’ve had to learn how to keep living in the waiting room of rare disease
- Pompe study ties high antibodies to infusion reaction risk
- Home infusions take us to as close to normal as I ever thought we’d get