Journal of clinical neuromuscular disease · 2010
Adult-onset acid maltase deficiency with isolated axial muscle involvement.
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Salem Bassel, Thaisetthawatkul Pariwat, Fernandes J Americo, McComb Rodney D
Аннотация
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.
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.