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Pompe Disease Synonym(s): Reviewed 11-13-2002 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Pompe Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Pompe Disease? Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. Also known as infantile acid maltase deficiency and type 2 glycogen storage disease, Pompe disease is estimated to occur in about 1 in 40,000 births. Pompe disease has three forms defined by age of onset and progression of symptoms: Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age. Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm, and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life. Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations Is there any treatment? What is the prognosis? What research is being done? Association for Glycogen Storage Disease
Muscular Dystrophy Association
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