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January 18, 2022; 98 (3) Resident & Fellow section

Teaching Video NeuroImage: Carbamazepine Improves Gait Initiation in Autosomal Recessive Myotonia Congenita

View ORCID ProfileYasuhiro Fuseya, Nana Ishikawa, Ryogen Sasaki, Hirofumi Yamashita
First published October 21, 2021, DOI: https://doi.org/10.1212/WNL.0000000000013010
Yasuhiro Fuseya
From the Departments of Molecular and Cellular Physiology and Neurology (Y.F.), Graduate School of Medicine, Kyoto University Hospital; Akahoshi Neurology Clinic (N.I.), Osaka; Department of Neurology (R.S.), Kuwana City Medical Center, Mie; and Department of Neurology (H.Y.), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
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  • ORCID record for Yasuhiro Fuseya
Nana Ishikawa
From the Departments of Molecular and Cellular Physiology and Neurology (Y.F.), Graduate School of Medicine, Kyoto University Hospital; Akahoshi Neurology Clinic (N.I.), Osaka; Department of Neurology (R.S.), Kuwana City Medical Center, Mie; and Department of Neurology (H.Y.), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
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Ryogen Sasaki
From the Departments of Molecular and Cellular Physiology and Neurology (Y.F.), Graduate School of Medicine, Kyoto University Hospital; Akahoshi Neurology Clinic (N.I.), Osaka; Department of Neurology (R.S.), Kuwana City Medical Center, Mie; and Department of Neurology (H.Y.), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
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Hirofumi Yamashita
From the Departments of Molecular and Cellular Physiology and Neurology (Y.F.), Graduate School of Medicine, Kyoto University Hospital; Akahoshi Neurology Clinic (N.I.), Osaka; Department of Neurology (R.S.), Kuwana City Medical Center, Mie; and Department of Neurology (H.Y.), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.
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Teaching Video NeuroImage: Carbamazepine Improves Gait Initiation in Autosomal Recessive Myotonia Congenita
Yasuhiro Fuseya, Nana Ishikawa, Ryogen Sasaki, Hirofumi Yamashita
Neurology Jan 2022, 98 (3) e328; DOI: 10.1212/WNL.0000000000013010

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A 60-year-old man presented with muscle stiffness. He had tended to fall since childhood. His parents were first cousins, and his relatives had no symptoms. Examination showed myotonia in ocular, hand, and limb muscles, followed by improvement with repeated activity (warm-up phenomenon; Video 1). Cold exposure did not aggravate myotonia. His lower legs showed muscle hypertrophy. Genetic tests showed a homozygous p.M560T mutation in the CLCN1 gene, which encodes skeletal muscle chloride channel 1, consistent with autosomal recessive myotonia congenita (Becker disease).1 Although treatment with mexiletine or phenytoin did not improve his symptoms, carbamazepine (350 mg/d) did, especially the walking disturbance (Video 2). Although the warm-up phenomenon is sometimes also observed in sodium channel myotonia,2 it is characteristic of myotonia congenita and an important clue for the diagnosis.

Video 1

Carbamazepine(−): The patient has myotonia during gait initiation, with the warm-up phenomenon and also grip and eyelid myotonia.Download Supplementary Video 1 via http://dx.doi.org/10.1212/013010_Video_1

Video 2

Carbamazepine(+): The myotonia during gait initiation improves dramatically with carbamazepine, and it suggests that myotonia may improve with medications that block voltage-gated sodium channels. Muscle hypertrophy is observed in his lower legs (latter part).Download Supplementary Video 2 via http://dx.doi.org/10.1212/013010_Video_2

Study Funding

The authors report no targeted funding.

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The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.

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Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Teaching slides links.lww.com/WNL/B639

  • © 2021 American Academy of Neurology

References

  1. 1.↵
    1. Zhang J,
    2. George AL, Jr..,
    3. Griggs RC, et al.
    Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology. 1996;47:993-998.
    OpenUrlAbstract/FREE Full Text
  2. 2.↵
    1. Trip J,
    2. Drost G,
    3. Ginjaar HB, et al.
    Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry. 2009;80:647-652.
    OpenUrlAbstract/FREE Full Text

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