Laryngeal neuropathy of Charcot-Marie-Tooth disease: Further observations and no

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Laryngoscope. 2009 Nov 30

Laryngeal neuropathy of Charcot-Marie-Tooth disease: Further observations and

novel mutations associated with vocal fold paresis.

Benson B, Sulica L, Guss J, Blitzer A.

New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical

Center, New York, New York, U.S.A.

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.