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Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?

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Abstract

We reported one patient with Charcot-Marie-Tooth type 4C (CMT4C) who developed seropositive myasthenia gravis. Neuromuscular junction alterations in CMT4C patients have not yet been reported. However, few patients have been reported to simultaneously have MG and CMT, but none with CMT4C. Our report suggests that additional research is required to confirm whether genetic neuropathies may predispose to MG.

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Acknowledgements

The laboratory team of the Mendelics for their collaboration in the NGS panel analysis. This study was supported by UFPR and genetic analysis (NGS panel) was partially supported by PTC Therapeutics Brazil.

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Authors and Affiliations

  1. Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil

    Paulo José Lorenzoni, Claudia Suemi Kamoi Kay, Renata Dal-Prá Ducci, Otto Jesus Hernandez Fustes, Lineu Cesar Werneck & Rosana Herminia Scola

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  1. Paulo José Lorenzoni
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  2. Claudia Suemi Kamoi Kay
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  3. Renata Dal-Prá Ducci
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  4. Otto Jesus Hernandez Fustes
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  5. Lineu Cesar Werneck
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  6. Rosana Herminia Scola
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Correspondence to Paulo José Lorenzoni.

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This report was published with written patient consent. All studies were conducted in accordance with ethical principles after obtaining patient consent. The study was approved by the Local Ethics Committee for Human Research of the Hospital de Clínicas da Universidade Federal do Paraná (UFPR).

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The authors declare no competing interests.

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Lorenzoni, P.J., Kay, C.S.K., Ducci, R.DP. et al. Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?. Neurol Sci 43, 705–707 (2022). https://doi.org/10.1007/s10072-021-05591-7

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