Laryngeal neuropathy of Charcot-Marie-Tooth disease: Further observations and novel mutations associated with vocal fold paresis

Authors

  • Brian Benson MD,

    1. New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical Center, New York, New York, U.S.A.
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  • Lucian Sulica MD,

    Corresponding author
    1. Department of Otorhinolaryngology, Weill Cornell Medical College, New York, New York, U.S.A.
    • Director of Laryngology/Voice Disorders, Department of Otorhinolaryngology, Weill Cornell Medical College, 1305 York Avenue, 5th Floor, New York, NY 10021
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  • Joel Guss MD,

    1. New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical Center, New York, New York, U.S.A.
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  • Andrew Blitzer MD, DDS

    1. New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical Center, New York, New York, U.S.A.
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Abstract

Objectives/Hypothesis:

To describe and define laryngeal neuropathy in Charcot-Marie-Tooth (CMT) disease.

Study Design/Methods:

Retrospective record review from a university laryngology practice.

Results:

Four adult CMT patients presented with laryngeal symptoms. Three patients exhibited bilateral vocal fold palsy, in each case with more severe hypomobility on the left. One case exhibited an isolated left vocal fold palsy. All patients complained of hoarseness and stridor, three had dyspnea, two patients had dysphagia, and one had obstructive sleep apnea (OSA). One patient has required airway surgery to date. Genetic testing revealed known sequence alterations in one case and sequence alterations previously not associated with laryngeal dysfunction in two cases. One case was familial and two were sporadic; information is not available in a fourth.

Conclusions:

The clinical course of the cases suggests slowly progressive neuropathy that appears to be nerve length dependent. The lack of severe respiratory distress despite dense bilateral paresis is consistent with existing reports and with the reported low rate of tracheostomy in adults with laryngeal manifestations of CMT. Genetic testing does not currently inform expectations or management of laryngeal disease. Dyspnea, dysphagia, and OSA symptoms in patients with CMT require careful laryngologic evaluation. Laryngoscope, 2010

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