Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-586b7cd67f-gb8f7 Total loading time: 0 Render date: 2024-11-29T03:51:27.120Z Has data issue: false hasContentIssue false

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

from Myopathies

Published online by Cambridge University Press:  aN Invalid Date NaN

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
Get access

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Suggested Reading

Dunø, M, Vissing, J. Myotonia congenita. 2005 Aug 3 [updated 2021 Feb 25]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301529.Google Scholar
Matthews, E, Holmes, S, Fialho, D. Skeletal muscle channelopathies: a guide to diagnosis and management. Pract Neurol 2021;21(3):196–204. doi: 10.1136/practneurol-2020-002576. Epub 2021 Feb 9. PMID: 33563766.CrossRefGoogle ScholarPubMed
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
Siddamreddy, S, Dandu, VH. Thyrotoxic periodic paralysis. 2022 Jul 25. In StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023 Jan–. PMID: 32809505.Google Scholar
Statland, JM, Fontaine, B, Hanna, MG, et al. Review of the diagnosis and treatment of periodic paralysis. Muscle Nerve 2018;57(4):522–530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. PMID: 29125635; PMCID: PMC5867231.CrossRefGoogle ScholarPubMed
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

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×