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-t7fkt Total loading time: 0 Render date: 2024-11-30T15:30:52.281Z Has data issue: false hasContentIssue false

Case 35 - Congenital Myasthenic Syndromes (CMS): Dok7

from Disorders of the Neuromuscular Junction

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
Get access

Summary

A 7-year-old girl visited the outpatient clinic because of difficulty walking. She had never managed to run properly, and experienced frequent falls ever since she began walking independently at the age of 18 months. Jumping was not possible, and when stepping up or down, she needed support below her arms. There was no fluctuation of symptoms during the day, but she had suffered from periods that could last several weeks in which using the stairs was completely impossible. She was unable to blow up a balloon and her speech was slow and poorly articulated. There were no complaints about chewing or swallowing. She had a healthy non-identical twin sister and the family history was unremarkable.

Keywords

congenital myasthenic syndromesCMSDOK7acetylcholine receptor subunithereditarysalbutomolptosislimb weaknessneonatalchildhoodsingle-fibre EMGrepetitive nerve stimulation
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 168 - 171
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

Finlayson, S, Morrow, JM, Rodriguez Cruz, PM, et al. Muscle magnetic resonance imaging in congenital myasthenic syndromes. Muscle Nerve 2016;54(2):211–219. doi: 10.1002/mus.25035. Epub 2016 Feb 22. PMID: 26789134; PMCID: PMC4982021.CrossRefGoogle ScholarPubMed
Kao, JC, Milone, M, Selcen, D, et al. Congenital myasthenic syndromes in adult neurology clinic: a long road to diagnosis and therapy. Neurology 2018;91(19):e1770–e1777. doi: 10.1212/WNL.0000000000006478. Epub 2018 Oct 5. PMID: 30291185; PMCID: PMC6251603.CrossRefGoogle Scholar
Ohno, K, Ohkawara, B, Shen, XM, Selcen, D, Engel, AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci 2023;24(4):3730. doi: 10.3390/ijms24043730. PMID: 36835142; PMCID: PMC9961056.CrossRefGoogle ScholarPubMed
Ramdas, S, Beeson, D. Congenital myasthenic syndromes: where do we go from here? Neuromuscul Disord 2021;31(10):943–954. doi: 10.1016/j.nmd.2021.07.400. PMID: 34736634.CrossRefGoogle 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
×