Syncope as a Presenting Symptom of MuSK-Associated Myasthenia Gravis: A Case Report

ObjectiveDysautonomia in neuromuscular junction disorders is not frequently reported and is not widely recognized. It has been linked to thymoma and several novel antibodies. Yet, autonomic instability can be found even when these features are absent. In MuSK-related myasthenia gravis, clinical autonomic signs have been found in a significant percentage.CaseWe present a report of MuSK-related myasthenia gravis in a teen that presented with strong dysautonomic symptoms, most notably orthostatic intolerance prior to onset of neuromuscular symptoms. The patient experienced a severe disease course because of concurrent autonomic and myasthenic crises, requiring intensive treatment for recovery.DiscussionThe patient is unique in syncopal and autonomic burden prior to myasthenia gravis diagnosis. It is difficult to explain dysautonomia in MuSK. However, current evidence along with this case suggests yet unknown roles with broader systemic effect tied to the MuSK protein.

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Publication Details

Journal
Journal of Child Neurology
Published
2025-12-09
DOI
https://doi.org/10.1177/08830738251396190
Primary Topic
Myasthenia Gravis and Thymoma
Type
article
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article

Syncope as a Presenting Symptom of MuSK-Associated Myasthenia Gravis: A Case Report

Yaacov Anziska, Danielle Akinsanmi, Radhika Srinivasan, Steven G. Pavlakis
Journal of Child Neurology
Myasthenia Gravis and Thymoma
article

Syncope as a Presenting Symptom of MuSK-Associated Myasthenia Gravis: A Case Report

Yaacov Anziska, Danielle Akinsanmi, Radhika Srinivasan, Steven G. Pavlakis
article en

Abstract

ObjectiveDysautonomia in neuromuscular junction disorders is not frequently reported and is not widely recognized. It has been linked to thymoma and several novel antibodies. Yet, autonomic instability can be found even when these features are absent. In MuSK-related myasthenia gravis, clinical autonomic signs have been found in a significant percentage.CaseWe present a report of MuSK-related myasthenia gravis in a teen that presented with strong dysautonomic symptoms, most notably orthostatic intolerance prior to onset of neuromuscular symptoms. The patient experienced a severe disease course because of concurrent autonomic and myasthenic crises, requiring intensive treatment for recovery.DiscussionThe patient is unique in syncopal and autonomic burden prior to myasthenia gravis diagnosis. It is difficult to explain dysautonomia in MuSK. However, current evidence along with this case suggests yet unknown roles with broader systemic effect tied to the MuSK protein.

Journal of Child Neurology
State University of New York (US), SUNY Downstate Health Sciences University (US)
Openalex Percentile: Top 46%
Myasthenia Gravis and Thymoma
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