Peripheral vestibular dysfunction in patients With primary ciliary dyskinesia
Abstract
Hypothesis Patients with primary ciliary dyskinesia (PCD) have absent or reduced otoconial function compared to the normal population. Background Investigations in zebrafish show that ciliation is important for the development of the otolith organs, but this has never been evaluated in humans. PCD is a congenital defect of ciliary structure. We undertook a pilot study to determine whether patients with PCD have absent or reduced otoconial function compared to the normal population. Methods Vestibular function testing, including utricular centrifugation (UCF) testing, vestibular evoked myogenic potentials (VEMPs), and electronystagmography, was undertaken in five patients with known PCD. Patients also completed validated questionnaires regarding subjective balance function and symptoms. Results There were markedly reduced or unobtainable VEMPs bilaterally in three of the five subjects and unilaterally in the remaining two subjects. No subject had a pathological UCF asymmetry, but three subjects showed utricular abnormalities. The vestibulo-ocular reflex (VOR) at 0.25 Hz sinusoidal rotation was normal in all subjects. There were no subjective dizzy symptoms or balance issues. Conclusion We speculate that the reduced saccular and utricular function in PCD patients observed in this pilot study suggests a relationship between cilia structure and/or motility, and otoconia seeding and/or positioning. Further investigation is warranted.Citation
Rimmer, J., Patel, M., Agarwal, K., Hogg, C., et al. (2015) Peripheral vestibular dysfunction in patients with primary ciliary dyskinesia, Otology & Neurotology, 36 (4) pp. 662-669 DOI: 10.1097/MAO.0000000000000592Journal
Otology and NeurotologyAdditional Links
https://journals.lww.com/otology-neurotology/Abstract/2015/04000/Peripheral_Vestibular_Dysfunction_in_Patients_With.15.aspxType
Journal articleLanguage
enDescription
This is an accepted manuscript of an article published by Lippincott, Williams and Wilkins in Otology and Neurotology in April 2015, available online: https://doi.org/10.1097/MAO.0000000000000592 The accepted version of the publication may differ from the final published version.ISSN
1531-7129ae974a485f413a2113503eed53cd6c53
10.1097/mao.0000000000000592
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Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by-nc-nd/4.0/