Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will also affect your future children. How is Pompe disease inherited? Pompe disease is inherited in a recessive pattern,…
Experiencing the symptoms of Pompe disease, a rare genetic disorder resulting in muscle weakness, fatigue, developmental delays, breathing difficulties, and heart problems, can have a profound psychological impact on patients and may even lead to depression. Pompe, characterized by the buildup of a type of sugar called glycogen…
Speech therapy is commonly used to help Pompe disease patients, especially those diagnosed with the infantile-onset form of the disease. These patients show symptoms such as difficulty breathing, swallowing, and speech articulation due to weakened facial muscles, an enlarged tongue with poor motor control, and…
Pompe disease is a rare genetic disease characterized by symptoms such as muscle weakness, scoliosis, and heart problems. Dealing with these symptoms can be very stressful, and patients and caregivers usually need a lot of support. Here are a few ways to find more information about Pompe…
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…
Pompe disease is a rare inherited disease characterized by the abnormal buildup of a type of sugar called glycogen within the cells and tissues of the body. Glycogen accumulation occurs due to mutations in the GAA gene that provides instructions for making an enzyme called alpha-glucosidase…
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…
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…
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