Acid maltase deficiency and related myopathies.
There are 11 glycogen diseases (GSD), nine of which are associated with myopathy. Most of these glycogen storage myopathies are associated with dynamic symptoms and signs in that the major neuromuscular complaints are exercise-induced muscle pain, cramps, and myoglobinura (e.g., GSD V or McArdle's disease associated with myophosphorylase deficiency). The other types of glycogen storage myopathies are considered static in that they are associated with fixed weakness rather than dynamic symptoms and signs. The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency). This article reviews the clinical, laboratory, electrophysiologic, histopathologic, and pathogenesis of these static GSD myopathies.
Amato
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Department of Neurology, Brigham and Women's Hospital; and Associate Professor, Department of Neurology, Harvard Medical School, Boston, MA 02115.
D001706:Biopsy; D002874:Chromosome Mapping; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010641:Phenotype
D005087:Glucan 1,4-alpha-Glucosidase