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Myotonia congenita—a cause of muscle weakness and stiffness

  • Case Study
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From Nature Clinical Practice Neurology

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Abstract

Background A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy.

Investigations Neurological examination, electrophysiological studies and genetic testing.

Diagnosis Recessive myotonia congenita (Becker's disease).

Management Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily.

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Figure 1: Results of electrophysiological tests on patient with recessive myotonia congenita.
Figure 2: Algorithm for the diagnosis of myotonias.

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Acknowledgements

We thank Dr Sternberg from the Groupe Hospitalier de la Pitié-Salpêtrière for performing the genetic testing in this case.

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Authors and Affiliations

  1. assistant neurologist,

    Nicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard & Nicolas Dupré

  2. professor,

    Nicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard & Nicolas Dupré

  3. professor,

    Nicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard & Nicolas Dupré

  4. assistant professor, all at the University of Laval, QC, Canada

    Nicolas Chrestian, Jack Puymirat, Jean-Pierre Bouchard & Nicolas Dupré

Authors
  1. Nicolas Chrestian
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  2. Jack Puymirat
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  3. Jean-Pierre Bouchard
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  4. Nicolas Dupré
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Corresponding author

Correspondence to Nicolas Dupré.

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Competing interests

The authors declare no competing financial interests.

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Chrestian, N., Puymirat, J., Bouchard, JP. et al. Myotonia congenita—a cause of muscle weakness and stiffness. Nat Rev Neurol 2, 393–399 (2006). https://doi.org/10.1038/ncpneuro0239

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  • DOI: https://doi.org/10.1038/ncpneuro0239

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