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February 19, 2013; 80 (8) Resident and Fellow Section

Teaching Video NeuroImages: Cold-induced eyelid myotonia

Yi-Jen Wu, Chou-Ching Lin
First published February 18, 2013, DOI: https://doi.org/10.1212/WNL.0b013e318282506e
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Article Figures & Data

Figures

  • Figure 1
    Figure 1 Cold-induced right eyelid myotonia

    When repetitively opening and closing eyes, the right eyelid stiffness with difficult opening is produced after applying ice to it and worsens after repeated movement with the feature of paradoxical myotonia, in contrast to the left eye without cold exposure.

  • Figure 2
    Figure 2 EMG study

    Myotonic discharge was recorded over the right thenar eminence at room temperature.

Additional Files

  • Data Supplement

    One video and legend; one .mpg file and one Microsoft Word file.

    Neurology® data supplements are not copyedited before publication. Published editorials and translations have been copyedited.
    © 2013 American Academy of Neurology.

    Files in this Data Supplement:

  1. Yi-Jen Wu, MD and
  2. Chou-Ching Lin, MD, PhD
  1. From the Institute of Clinical Medicine (Y.-J.W.), College of Medicine, National Cheng Kung University, Tainan; Division of Neurology (Y.-J.W.), National Cheng Kung University Hospital, Dou-Liou Branch, Yunlin; and Department of Neurology (C.-C.L.), National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  1. Correspondence to Dr. Lin: cxl45{at}mail.ncku.edu.tw
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Funding for Travel or Speaker Honoraria:

  1. (1) Allergan, travel

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Patents:

  1. (1) Skull endosseous implant: intended as a permanent port for monitoring the activities, such as electrical activity, in the brain. (2) Forearm rehabilitation and torque measurement device: a device for forearm rehabilitation and monitoring. The emphasis is on supination and pronation. (3) Ankle Rehab apparatus: portable and intelligent

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Research Support, Commercial Entities:

  1. (1) Bayer

Research Support, Government Entities:

  1. (1) National Science Council, Taiwan, NSC 99-2628-B-006 -002 -MY3, PI, (2) National Science Council, Taiwan, NSC 99-2221-E-006 -017 -MY3, PI

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A 48-year-old man presented with episodic paraplegia and stiffness of hands, face, and tongue, along with eyelid myotonia when exposed to cold temperature, which he had since childhood. Eyelid myotonia was evoked either by exposure to cold weather (video on the Neurology® Web site at www.neurology.org and figure 1) or by forceful eye closure. Myotonia was elicited with percussion of the tongue and thenar eminence. EMG showed myotonic discharge at room temperature (figure 2). Creatine kinase was mildly elevated to 293 U/L. The genetic study showed missense mutation (R1448C) in the voltage-gated sodium channel, type IV, alpha subunit (SCN4A).1 The patient's daughter had the same genetic mutation and similar symptoms.

Figure 1
Figure 1 Cold-induced right eyelid myotonia

When repetitively opening and closing eyes, the right eyelid stiffness with difficult opening is produced after applying ice to it and worsens after repeated movement with the feature of paradoxical myotonia, in contrast to the left eye without cold exposure.

Figure 2
Figure 2 EMG study

Myotonic discharge was recorded over the right thenar eminence at room temperature.

AUTHOR CONTRIBUTIONS

The first author, Dr. Yi-Jen Wu, has done the work for the manuscript writing, clinical history taking, neurology exanimation, and the collections of all the laboratory examinations with the supervision of Dr. Chou-Ching Lin, the corresponding author.

DISCLOSURE

Y.-J. Wu reports no disclosures. C.-C. Lin received funding for a trip from Allergan, holds patents of skull endosseous implant and forearm rehabilitation and torque measurement device, has a pending patent for ankle rehabilitation apparatus, is funded by National Science Council (Taiwan) grants NSC99-2628-B-006-002-MY3 and NSC99-2221-E-006-017-MY3, and received research support from Bayer. Go to Neurology.org for full disclosures.

Footnotes

REFERENCE

  1. 1.↵
    1. Cannon SC
    . Pathomechanisms in channelopathies of skeletal muscle and brain. Annu Rev Neurosci 2006;29:387–415.
    OpenUrlCrossRefPubMedWeb of Science

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