Glycogen Storage Disease Type II
Synonyms
Acid Alpha Glucosidase Deficiency
Acid Alpha-Glucosidase Deficiencies
Acid Alpha-Glucosidase Deficiency
Acid Maltase Deficiencies
Acid Maltase Deficiency
Acid Maltase Deficiency Disease
Adult Glycogen Storage Disease Type II
Alpha 1,4 Glucosidase Deficiency
Alpha-1,4-Glucosidase Deficiencies
Alpha-1,4-Glucosidase Deficiency
Alpha-Glucosidase Deficiencies
Alpha-Glucosidase Deficiencies, Acid
Alpha-Glucosidase Deficiency
Alpha-Glucosidase Deficiency, Acid
Deficiencies, Acid Alpha-Glucosidase
Deficiencies, Acid Maltase
Deficiencies, Alpha-1,4-Glucosidase
Deficiencies, GAA
Deficiency Disease, Acid Maltase
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
Deficiency of Alpha Glucosidase
Deficiency of Alpha-Glucosidase
Deficiency, Acid Alpha-Glucosidase
Deficiency, Acid Maltase
Deficiency, Alpha-1,4-Glucosidase
Deficiency, GAA
Disease, Pompe
Disease, Pompe's
GAA Deficiencies
GAA Deficiency
GSD II
GSD2
GSD2s
Generalized Glycogenoses
Generalized Glycogenosis
Glycogen Storage Disease II
Glycogen Storage Disease Type 2
Glycogen Storage Disease Type II, Adult
Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Juvenile
Glycogenoses, Generalized
Glycogenosis 2
Glycogenosis Type II
Glycogenosis, Generalized
Infantile Glycogen Storage Disease Type II
Juvenile Glycogen Storage Disease Type II
Lysosomal alpha 1,4 Glucosidase Deficiency Disease
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Maltase Deficiencies, Acid
Pompe Disease
Pompe's Disease
Pompes Disease
Type II, Glycogenosis
Type IIs, Glycogenosis
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)
See Also