Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia

Mol Genet Metab. 2015 Apr;114(4):580-3. doi: 10.1016/j.ymgme.2015.02.004. Epub 2015 Feb 21.


Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies. Acid α-glucosidase (GAA) activity was tested in dried blood spots. If a positive result was obtained, GAA activity in isolated lymphocytes and/or genetic testing was performed as a confirmatory diagnosis. Out of the 140 investigated patients, 2 patients with myopathies of unknown origin were confirmed to be positive for Pompe disease. Thus, late-onset Pompe disease should be considered among adult patients with myopathy of unknown origin.

Keywords: Alpha glucosidase; Idiopathic hyperCKemia; Maltase deficiency; Myopathy; Pompe disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cohort Studies
  • Creatine Kinase / genetics
  • Creatine Kinase / metabolism
  • Delayed Diagnosis*
  • Dried Blood Spot Testing
  • Female
  • Genetic Testing
  • Glycogen Storage Disease Type II / diagnosis*
  • Humans
  • Middle Aged
  • Muscular Diseases / etiology*
  • Muscular Diseases / genetics
  • Mutation
  • Polymyositis / etiology
  • Polymyositis / genetics
  • alpha-Glucosidases / blood


  • Creatine Kinase
  • alpha-Glucosidases