| alternative label
| - Disease, Pompe's
- GSD2
- Glycogénose de type 2 de l'adulte
- Pompe Disease
- Type IIs, Glycogenosis
- Acid Maltase Deficiencies
- Acid Maltase Deficiency
- Alpha-Glucosidase Deficiency
- Glycogen Storage Disease Type 2
- Glycogen Storage Disease Type II
- Glycogenosis Type II
- Glycogenosis, Generalized
- Glycogénose de type II de l'adulte
- Infantile Glycogen Storage Disease Type II
- Pompes Disease
- Acid Alpha Glucosidase Deficiency
- Deficiencies, GAA
- Deficiency of Alpha-Glucosidase
- Deficiency, Alpha-1,4-Glucosidase
- Disease, Pompe
- Generalized Glycogenosis
- Glycogenoses, Generalized
- Glycogénose de type 2
- Juvenile Glycogen Storage Disease Type II
- Lysosomal alpha-1,4-Glucosidase Deficiency Disease
- Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
- Acid Maltase Deficiency Disease
- Alpha 1,4 Glucosidase Deficiency
- Alpha-1,4-Glucosidase Deficiency
- Deficiencies, Acid Alpha-Glucosidase
- Deficiency Disease, Acid Maltase
- Déficit en alpha-1,4-glucosidase acide
- Déficit en alpha-1,4-glucosidase acide lysosomale
- Déficit en maltase acide
- Glycogen Storage Disease II
- Glycogénose de type 2 infantile
- Glycogénose de type II infantile
- Déficit en alpha-1,4-glucosidase acide lysosomiale
- Acid Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiencies
- Deficiencies, Acid Maltase
- Deficiencies, Alpha-1,4-Glucosidase
- GSD2s
- Generalized Glycogenoses
- Glycogen Storage Disease Type II, Adult
- Glycogen Storage Disease Type II, Juvenile
- Acid Alpha-Glucosidase Deficiency
- Alpha-1,4-Glucosidase Deficiencies
- Deficiency of Alpha Glucosidase
- Deficiency, Acid Alpha-Glucosidase
- Deficiency, Acid Maltase
- Deficiency, GAA
- GAA Deficiencies
- GAA Deficiency
- Glycogénose de type II juvénile
- Maltase Deficiencies, Acid
- Adult Glycogen Storage Disease Type II
- Alpha-Glucosidase Deficiencies, Acid
- Alpha-Glucosidase Deficiency, Acid
- GSD II
- Glycogen Storage Disease Type II, Infantile
- Glycogenosis 2
- Glycogénose de Pompe
- Glycogénose de type 2 juvénile
- Maladie de Pompe
- Pompe's Disease
- Type II, Glycogenosis
- Lysosomal alpha 1,4 Glucosidase Deficiency Disease
|
| note
| - 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)
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