Daily living

Pompe disease is a rare inherited disorder in which mutations in the GAA gene lead to a deficiency in the enzyme alpha-glucosidase. This causes an abnormal buildup of a type of sugar called glycogen in the cells and tissues of the body. A personal health record…

Enzyme replacement therapy (ERT) is the first-line treatment for Pompe disease, a rare genetic disorder characterized by the buildup within cells of a large, complex sugar molecule. That sugar molecule, called glycogen, accumulates within the cells in people with Pompe due to the deficiency of an enzyme called…

Pompe disease is a rare, progressive genetic disorder characterized by the abnormal buildup of a type of sugar called glycogen within the cells. Muscle weakness and fatigue are among the common symptoms of late-onset Pompe disease which can affect daily activities and overall quality of life. Here…

Rare genetic diseases such as Pompe disease are difficult to deal with, not only for the patient, but also for caregivers. Here are some tips to ensure you are able to give the best possible care to a person with Pompe disease. Be conscious of your own health Your…

Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary hygiene into their daily routines, a small study suggests. The study, “Cough Effectiveness and Pulmonary Hygiene…