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Semin Neurol 2022; 42(06): 716-722
DOI: 10.1055/a-1985-0230
Review Article

Challenging Neuromuscular Disease Cases

Cynthia Bodkin
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
,
Adam Comer
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
,
Marcia Felker
2   Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
,
Laurie Gutmann
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
,
Karra A. Jones
3   Department of Pathology, Duke University Medical Center, Durham, North Carolina
,
John Kincaid
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
,
Katelyn K. Payne
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
4   Department of Medical Genetics and Genomics, Indiana University School of Medicine, Indianapolis, Indiana
,
Blair Skinner
1   Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana
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Abstract

The diagnosis of neuromuscular disorders requires a thorough history including family history and examination, with the next steps broadened now beyond electromyography and neuropathology to include genetic testing. The challenge in diagnosis can often be putting all the information together. With advances in genetic testing, some diagnoses that adult patients may have received as children deserve a second look and may result in diagnoses better defined or alternative diagnoses made. Clearly defining or redefining a diagnosis can result in understanding of potential other systems involved, prognosis, or potential treatments. This article presents several cases and approach to diagnosis as well as potential treatment and prognostic concerns, including seipinopathy, congenital myasthenic syndrome, central core myopathy, and myotonic dystrophy type 2.

Keywords

myopathy - congenital myasthenic syndrome - myotonic dystrophy - seipinopathy


Publication History

Accepted Manuscript online:
23 November 2022

Article published online:
29 December 2022

© 2022. Thieme. All rights reserved.

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