Adult-onset acid maltase deficiency with isolated axial muscle involvement

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Introduction: We report a patient with acid maltase deficiency who presented with subacute respiratory failure as the first symptom without significant extremity weakness. Methods and results: Electromyography of extremities was normal but showed myopathic changes and myotonic discharges limited to axial muscles only. Muscle biopsy confirmed the diagnosis. Conclusion: It is essential to examine axial muscles during electromyography if a patient presents with respiratory failure of unclear etiology even if the clinical examination does not show significant weakness in the extremities and electromyographic findings in the extremities are unremarkable.

Original languageEnglish (US)
Pages (from-to)30-35
Number of pages6
JournalJournal of Clinical Neuromuscular Disease
Volume12
Issue number1
DOIs
StatePublished - Sep 2010

Keywords

  • Pompe disease
  • acid maltase deficiency
  • axial muscle weakness
  • difficulty with extubation
  • glycogen storage disease Type II

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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