Pompe Disease: Causes and Symptoms

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Pompe Disease

Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages, occurring at any time from infancy to adulthood. It is caused by a defective gene that results in a deficiency of an enzyme called acid alpha-glucosidase. The absence of this enzyme causes excessive buildup of a substance called glycogen, a form of sugar that is in a specialized compartment of muscle cells throughout the body for energy storage and is often found in muscle cells. As excessive glycogen builds up, the cells lysosomes begin to swell beyond their normal size and interfere with normal muscle function. Lysosomes can rupture and cause muscle damage. Damage to individual muscle cells eventually causes weakness of larger muscle bundles and lead to patient symptoms. The symptoms typically get worse over time as glycogen accumulates the destructive process continues. This accumulated glycogen affects muscle structure and function and causes muscle damage and weakness. Exactly which areas of the body are affected, and how severely may vary from patient to patient. The underlying cause of Pompe disease is always the same the in all patients. It occurs when a person inherits this gene defect from both parents. Symptoms may not be apparent at birth and can be present at any age from infancy through adulthood. Typically the earlier symptoms manifest, the more serious the disease course is likely to be. The human body produces various enzymes that help break down substances that play a role in the function of cells throughout the body. In patients with Pompe disease, this enzyme is either missing, deficient or not functioning properly. In infants the almost complete absence of the enzyme seems to consistently result in very severe signs and symptoms, such as extreme muscle weakness, breathing difficulties and serious heart problems. The symptoms worsen at a very rapid rate and are often fatal. The variable...
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