Related Experiment Video
Updated: Jun 9, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Adult-onset acid maltase deficiency with isolated axial muscle involvement
Bassel Salem1, Pariwat Thaisetthawatkul, J Americo Fernandes
1Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
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.
More Related Videos
06:53Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
Published on: November 23, 2011
08:07Single Myofiber Isolation and Culture from a Murine Model of Emery-Dreifuss Muscular Dystrophy in Early Post-Natal Development
Published on: July 1, 2020
Related Concept Videos
Alterations in Muscle Tone lll
Inborn Errors of Metabolism
Cross-bridge Cycle
Myasthenia Gravis ll: Pathophysiology
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Satellite Stem Cells and Muscular Dystrophy