Adult-Onset Acid Maltase Deficiency With Isolated Axial Muscle Involvement

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.