symptoms

Gene and enzyme replacement therapies for Pompe disease improved breathing and limb strength in a mouse model of the disease, a study showed. The researchers said the improvement was associated with glycogen clearance in the tongue, the lungs, and the diaphragm, the main muscle involved in respiratory control. Glycogen…

Involvement in the brain and spinal cord’s white matter is common in Pompe disease, particularly in the infantile-onset form, according to a review of published studies. Other affected parts of the brain and spinal cord, or central nervous system (CNS), were the gray matter and blood vessels in the…

In my last column, as part of “The Pompe Community Diaries” series, I introduced 59-year-old Steve Bersani, who lives with Pompe disease and served in the Boston Police Department for 30 years before retiring in 2018. In recent video chats with Bersani, we discussed the issues he faces…

The past six months with my newest baby boy, Kylan, have been pure bliss — apart from his acid reflux. For the first three months, Kylan was strictly breastfed. Everything was going well with my supply, and he was getting plenty of milk. However, he was constantly spitting up. Kylan…

“The Pompe Community Diaries” is a series that follows the journeys, musings, and challenges of those in the Pompe disease community. This week, I’m introducing Steve Bersani. Steve served as an officer in the Boston Police Department for 30 years before retiring in 2018. He operated in…

A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish…

Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having a missed diagnosis of late-onset Pompe disease (LOPD), a study in the U.S. shows. A LOPD diagnosis should be considered in patients with progressive muscle weakness and at least…

Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…

Many adults with late-onset Pompe disease (LOPD) see their own health status as declining over time, with difficulty swallowing and speaking, and scoliosis (sideways curvature of the spine) being burdensome symptoms for those on enzyme replacement treatment (ERT) for more than 15 years, a survey study has found.

My 6-year-old son, Cayden, has been seeing an ear, nose, and throat (ENT) doctor since he was about 2 years old. His metabolic disease specialist, who manages everything related to Cayden’s infantile-onset Pompe disease, originally referred him to the ENT department because this type of Pompe is known to…