Glycogen storage disease due to acid maltase deficiency (Q84784)

Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy. The infantile form of the disease starts before the age of 3 months with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy beginning with the lower limbs, and affects the respiratory system. A large spectrum of intermediate forms exists between these two extremes.