1. Myopathy in Childhood Muscle-Specific Kinase Myasthenia Gravis.
- Author
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Kirzinger L, Khomenko A, Schulte-Mattler W, Backhaus R, Platen S, and Schalke B
- Subjects
- Child, Female, Humans, Immunoglobulins, Intravenous administration & dosage, Muscular Diseases drug therapy, Myasthenia Gravis drug therapy, Steroids administration & dosage, Muscular Diseases blood, Muscular Diseases diagnosis, Myasthenia Gravis blood, Myasthenia Gravis diagnosis, Receptor Protein-Tyrosine Kinases blood, Receptors, Cholinergic blood
- Abstract
Background: Adult and pediatric patients suffering from MuSK (muscle-specific kinase) -antibody positive myasthenia gravis exhibit similar features to individuals with acetylcholine receptor (AChR) antibodies, but they differ in several characteristics such as a predominant bulbar, respiratory and neck weakness, a generally worse disease severity and a tendency to develop muscle atrophy. Muscle atrophy is a rare phenomenon that is usually restricted to the facial muscles., Results: We describe a girl with MuSK-antibody positive myasthenia gravis who developed a myopathy with severe generalized muscular weakness, muscle atrophy, and myopathic changes on electromyography., Conclusion: This is the first published example of a generalized myopathic syndrome in myasthenia gravis. We review the relevant literature and discuss the hypothesis of a mitochondrial myopathy as a pathogenic mechanism in MuSK-antibody positive myasthenia gravis., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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