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Definition

A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.

Acronym

GSD2

Synonyms

Acid alpha-glucosidase deficiency
Acid maltase deficiency
Alpha-1,4-glucosidase deficiency
AMD
Cardiomegalia glycogenica
GAA deficiency
Glycogenosis generalized cardiac form
Glycogenosis II
Glycogen storage disease II
GSD II
GSD-II
Pompe disease

Keywords

Glycogen storage disease

 
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