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Case 50 - Skeletal Muscle Channelopathies: Non-Dystrophic Myotonia; Myotonia Congenita (Becker)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 35-year-old man complained about muscle stiffness and weakness, especially when initiating a movement. He had experienced these symptoms for as long as he could remember. They were present in his eyes, jaws, tongue, and limb muscles. He had noticed that cold weather had a negative influence. He was not able to run and did not participate in team sport activities. In spite of these symptoms, he experienced no limitations in activities of daily living. He was referred because he had been informed elsewhere about possible treatment. The family history revealed similar symptoms in a sister and a brother, but not in the parents. His father’s grandparents were cousins.

Keywords

myotoniatransient muscle weaknessproximalmuscle stiffnessmuscle hypertrophyautosomal recessiveskeletal muscle channelopathiescongenital myotoniaBecker diseaseThomsen disease
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 212 - 215
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

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Sekhon, DS, Vaqar, S, Gupta, V. Hyperkalemic periodic paralysis. 2023 May 8. In StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023 Jan–. PMID: 33231989.Google Scholar
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Veerapandiyan, A, Statland, JM, Tawil, R. Andersen-Tawil syndrome. 2004 Nov 22 [updated 2018 Jun 7]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301441.Google Scholar
Vicart, S, Franques, J, Bouhour, F, et al. Efficacy and safety of mexiletine in non-dystrophic myotonias: a randomised, double-blind, placebo-controlled, cross-over study. Neuromuscul Disord 2021;31(11):1124–1135. doi: 10.1016/j.nmd.2021.06.010. Epub 2021 Jun 27. PMID: 34702654.CrossRefGoogle ScholarPubMed
Weber, F, Lehmann-Horn, F. Hypokalemic periodic paralysis. 2002 Apr 30 [updated 2018 Jul 26]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301512.Google Scholar

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