Case report highlights dysautonomia and orthostatic intolerance in a teen with MuSK-associated myasthenia gravis, suggesting systemic effects tied to MuSK.
Objective Dysautonomia 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. Case We 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. Discussion The 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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Akinsanmi et al. (2025) studied this question.
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