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Related to Pompe's disease: glycogen storage disease, von Gierke's disease, Cori's disease, Forbes disease, McArdle disease, Tay Sachs disease
glycogen storage disease (type II), a condition in which deficiency of the enzyme α-1,4-glucosidase results in generalized glycogen accumulation, with cardiomegaly and usually fatal cardiorespiratory failure; children affected with this disease are mentally retarded and hypotonic. Called also generalized glycogenosis.
Etymology: J.C. Pompe, twentieth-century Dutch physician; L, dis, opposite of; Fr, aise, ease
a rare genetic disorder that is a form of muscle glycogen storage disease, characterized by a generalized accumulation of glycogen resulting from a deficiency of acid maltase (alpha-1,4-glucosidase). It is usually fatal in infants, causing cardiac or respiratory failure. Children with Pompe's disease appear mentally retarded and hypotonic, seldom living beyond 20 years of age. In adults, muscle weakness is progressive, but the disease is not fatal. Also called glycogen storage disease, type II. See also glycogen storage disease.
Patient discussion about Pompe's disease
Q. help with tingling in the hands amd numness
A. I have experienced the same conditions in the past on numerous occasions. The malady, more than likely, is Carpal Tunnel Syndrome. You should consult a neurologist for a diagnosis.More discussions about Pompe's disease