symptoms

Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in Late‐onset Pompe Disease: Clinical utility and correlation with functional measures,” was published in the Journal of Inherited Metabolic…

Pompe disease is a rare genetic disease in which a type of complex sugar molecule called glycogen builds up within cells and affects their proper function, leading to problems in many organs, especially the heart. All Pompe disease patients have heart-related symptoms, but the risk of heart failure…

Living with the symptoms of a rare disease like Pompe disease can be very stressful. Following are a few tips to minimize stress if you have been diagnosed with Pompe disease. Know Pompe disease and its symptoms Having a good understanding of the nature of Pompe disease symptoms…

A case report of a baby boy diagnosed with abnormal fluid accumulation due to infantile-onset Pompe disease highlights the importance of considering this type of Pompe as the root cause, especially in states that don’t screen newborns for the disease, researchers said. The case was briefly described in the correspondence…

Pompe is a type of glycogen storage disease in which a complex sugar molecule known as glycogen builds up within cells, especially in the muscle cells. A defect in the GAA gene causes low production of the acid alpha-glucosidase enzyme that is needed to break down glycogen into…

Rare genetic diseases such as Pompe disease pose a challenge in effectively communicating your concerns to the doctor. Here are some tips to make the most of your doctor’s visit. Make sure you consult the right doctor Pompe disease is a rare genetic disorder, so not all doctors are…

A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…

Information about rare genetic disorders such as Pompe disease can be hard to find, complicating life for both patients and caregivers. This article offers an easy reference to some of the most commonly asked questions about Pompe disease. What is Pompe disease? Pompe disease is a rare and progressive genetic…

Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The study, “Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using…

Magnetic resonance imaging (MRI) showing an abnormally bright signal in the tongue is common among patients with late-onset Pompe disease, a study has found. This particular imaging feature may hold diagnostic potential as it seems to be specific to Pompe disease patients with muscle weakness, not being detected in…