Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency

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6 Scopus citations


Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who presented with several years of severe, diffuse myalgia and no evidence of weakness on examination. Further testing revealed a mildly elevated serum creatine kinase, a subtle vacuolar myopathy, decreased skeletal muscle α-glucosidase activity, and causative mutations in the responsible . GAA gene. While likely very uncommon, adult-onset acid maltase deficiency may present with diffuse strength-sparing myalgia.

Original languageEnglish (US)
Pages (from-to)763-766
Number of pages4
JournalNeuromuscular Disorders
Issue number8
StatePublished - Aug 2012


  • Acid maltase deficiency
  • Glycogen storage disease II
  • Myalgia
  • Myofascial pain
  • Pompe disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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