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Congenital myasthenic syndrome (CMS) typically presents within the first year of life with fluctuating and fatigable muscle weakness, often affecting ocular and bulbar muscles.1 In spite of bulbar involvement, vocal cord paralysis (VCP) is an uncommon presentation of CMS,2 and is most often seen in peripheral neuropathies such as TRPV4 mutations.3 We report 2 cases of CMS with 2 novel mutations in which VCP was a major sign.
Acknowledgments
Acknowledgment: The authors thank the patients and their families and the FORGE Canada Consortium: Finding of Rare Disease Genes in Canada.
Footnotes
Author contributions: Dr. R. Al-Shahoumi: drafting/revising manuscript for content, including medical writing for content, and interpretation of data. Ms. L. Brady: drafting/revising manuscript and evaluating genetic data. J Schwartzentruber: Genetic data analysis and diagnosis. Dr. M. Tarnopolsky: Evaluating patients, drafting/revising manuscript, and evaluating genetic data.
Study funding: No targeted funding reported.
Disclosure: R. Al-Shahoumi, L. Brady, and J. Schwartzentruber report no disclosures relevant to the manuscript. M. Tarnopolsky has received a speaker honorarium from Prevention Genetics. Go to Neurology.org for full disclosures.
- Received August 8, 2014.
- Accepted in final form November 24, 2014.
- © 2015 American Academy of Neurology
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