Glycogen Storage Disease Type II (Pompe's Disease)

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435 relevant articles (19 outcomes, 37 trials/studies) found for this Disease

Description: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

Also Known As:

Pompe's Disease; Glycogenosis Type II; Adult Glycogen Storage Disease Type II; Deficiency Disease, Acid Maltase; Deficiency Disease, Lysosomal alpha-1,4-Glucosidase; Glycogen Storage Disease Type II, Adult; Glycogen Storage Disease Type II, Infantile; Glycogen Storage Disease Type II, Juvenile; Infantile Glycogen Storage Disease Type II; Juvenile Glycogen Storage Disease Type II; Glycogenosis Type IIs; Glycogenosis, Generalized; IIs, Glycogenosis Type; Lysosomal alpha 1,4 Glucosidase Deficiency Disease; Pompes Disease; Type II, Glycogenosis; Type IIs, Glycogenosis; Acid Maltase Deficiency Disease; Generalized Glycogenosis; Glycogenosis 2; Lysosomal alpha-1,4-Glucosidase Deficiency Disease; Pompe Disease