Adult-onset acid maltase deficiency with isolated axial muscle involvement

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6 Citations (Scopus)

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 1 2010

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Glycogen Storage Disease Type II
Extremities
Muscles
Electromyography
Respiratory Insufficiency
Biopsy

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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title = "Adult-onset acid maltase deficiency with isolated axial muscle involvement",
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.",
keywords = "Pompe disease, acid maltase deficiency, axial muscle weakness, difficulty with extubation, glycogen storage disease Type II",
author = "Bassel Salem and Pariwat Thaisetthawatkul and {Fernandes Filho}, {Jose Americo M} and McComb, {Rodney D}",
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T1 - Adult-onset acid maltase deficiency with isolated axial muscle involvement

AU - Salem, Bassel

AU - Thaisetthawatkul, Pariwat

AU - Fernandes Filho, Jose Americo M

AU - McComb, Rodney D

PY - 2010/9/1

Y1 - 2010/9/1

N2 - 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.

AB - 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.

KW - Pompe disease

KW - acid maltase deficiency

KW - axial muscle weakness

KW - difficulty with extubation

KW - glycogen storage disease Type II

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