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Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis

Kwon, YN | Woodhall, M | Sung, JJ | Kim, KK | Lim, YM | Kim, H | Kim, JE | Baek, SH | Kim, BJ | Park, JS | Seok, HY | Kim, DS | Kwon, O | Park, KH | Sohn, E | Bae, JS | Yoon, BN | Kim, NH | Ahn, SW | Choi, K | Oh, J | Park, HJ | Shin, KJ | Lee, S | Park, J | Kim, SH | Seok, JI | Bae, DW | An, JY | Joo, IS  | Choi, SJ | Nam, TS | Kim, S | Park, KJ | Kwon, KH | Waters, P | Hong, YH
Journal of neurology, 270(3). : 1478-1486, 2023
Journal Title
Journal of neurology
Background: We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical contexts for the diagnosis of MuSK MG. Methods: A retrospective study of 160 patients with a clinical suspicion of AChR Ab-negative generalized MG was performed. The serum samples were tested for anti-clustered AChR Ab by cell-based assay (CBA), anti-MuSK Ab by ELISA, CBA and/or radioimmunoprecipitation assay (RIPA). Clinical data were compared between anti-MuSK Ab-positive MG and double seronegative (AChR and MuSK) MG groups. Results: After excluding non-MG and clustered AChR Ab-positive patients, we identified 89 patients as a cohort of AChR Ab-negative generalized MG. Anti-MuSK Ab was positive by ELISA in 22 (24.7%) patients. While CBA identified five additional anti-MuSK Ab-positive patients, the results of ELISA were mostly consistent with CBA and RIPA with Cohen’s kappa of 0.80 and 0.90, respectively (p < 0.001). The most frequent differential diagnosis was motor neuron disease particularly of bulbar onset which showed remarkably overlapping clinical and electrophysiological features with MuSK MG at presentation. Conclusion: While confirming the highest sensitivity of CBA for detecting anti-MuSK Ab, our results highlight the clinical pitfalls in making a diagnosis of MuSK MG and may support a diagnostic utility of MuSK-ELISA in clinical practice.


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