Pompe disease is a rare genetic disease characterized by an abnormal buildup of a sugar called glycogen in cells and tissues. Its symptoms, which include progressive muscle weakness, fatigue, and ... Read more

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 ... Read more

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 ... Read more

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 ... Read more

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 ... Read more

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 ... Read more

Enzyme replacement therapy (ERT)  such as Lumizyme is the first-line treatment for Pompe disease, a rare genetic disorder characterized by the buildup within cells of a large, complex sugar molecule. ... Read more

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 ... Read more

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 ... Read more

Pompe disease is a rare, progressive genetic disease in which there is an accumulation of a type of sugar called glycogen inside cells. This occurs due to mutations in ... Read more