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J Clin Neuromuscul Dis · Sep 2010
Case ReportsAdult-onset acid maltase deficiency with isolated axial muscle involvement.
- Bassel Salem, Pariwat Thaisetthawatkul, J Americo Fernandes, and Rodney D McComb.
- Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
- J Clin Neuromuscul Dis. 2010 Sep 1; 12 (1): 30-5.
IntroductionWe report a patient with acid maltase deficiency who presented with subacute respiratory failure as the first symptom without significant extremity weakness.Methods And ResultsElectromyography of extremities was normal but showed myopathic changes and myotonic discharges limited to axial muscles only. Muscle biopsy confirmed the diagnosis.ConclusionIt 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.
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