A rare cause of adult-onset bilateral vocal cord paralysis.

Chin Mun Soong, Robin Adair

BMJ case reports 2021 Feb 04

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A 72-year-old man initially presented to the ENT outpatient department after 20 years with increasing intermittent episodes of dyspnoea and stridor. Flexible nasendoscopy revealed bilateral vocal cord paralysis with the cords in a medial position. He subsequently underwent urgent tracheostomy. He has six similarly affected family members across three generations all requiring tracheostomy to maintain an adequate airway. Follow-up and genetic testing have revealed mutation of the dynactin 1 gene leading to distal hereditary motor neuropathy type 7b. This is a rare occurrence causing this condition to be reported in only three families previously throughout the world. © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.