symptoms

Lower urinary tract symptoms, including a loss of bladder control and unusual urine flow, are prevalent among children with classic infantile-onset Pompe disease (IOPD) who begin treatment early with enzyme-replacement therapy (ERT), according to a small study. Findings suggest that “pediatricians should actively seek to recognize children with IOPD…

A few days ago, my 4-year-old son, Cayden, visited one of the specialists that he sees less frequently: the otolaryngologist, or ear, nose, and throat (ENT) doctor. Cayden’s been seeing this doctor since he was about 2. These checkups are necessary because Cayden has experienced hearing loss due to…

Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study. Treatment with enzyme-replacement therapy (ERT), a standard of care for Pompe patients, did not alleviate the debilitating symptoms,…

Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with Pompe disease, a small Dutch study reports. However, since the patients had mild disease and were relatively young, more study is needed to assess outcomes in this population, the researchers…

Infantile-onset Pompe disease has caused a lot of challenges for my 4-year-old son, Cayden. Until recently, he was never able to communicate with us verbally. We depended on a few different types of nonverbal communication devices and techniques, which I’ve discussed before. But his ability to speak just…

Interruptions to Myozyme enzyme replacement therapy (ERT) regimens during the COVID-19 pandemic led to worsened motor symptoms and poorer respiratory function in patients with Pompe disease, a French study found. These decreases in motor and respiratory function — seen after just a couple of months — were not…

Infection by the virus that causes COVID-19 led to mild-to-moderate symptoms in four people with late-onset Pompe disease (LOPD) and pulmonary involvement, despite the increased risk of severe complications in such cases, scientists reported. “COVID-19 infection can result in a benign course in some patients with LOPD. However, individuals with LOPD…

People with late-onset Pompe disease (LOPD) do not show significant brain abnormalities or general cognitive impairment, in contrast with some patients with the classical infantile-onset form, a study shows. The study, “Is the brain involved in patients with late-onset Pompe disease?,” was published in the…

Pompe disease patients show severe impairments in diaphragm motion, the major muscle of respiration, when compared with those who have other muscle disorders or motor neuron diseases, a small study reports. The study, “Diaphragmatic dysfunction in neuromuscular disease, an MRI study,” was published in the journal Neuromuscular…

A rare disease is not always visible. Just because someone may look “fine” on the outside doesn’t mean that they don’t have struggles they face daily because of their disease. Pompe disease is one of those diseases. Pompe disease can onset any time throughout a person’s…