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Updated: May 9, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
[Congenital ciliary dyskinesia. Focus]
1Inserm UMR S-938, centre de référence des maladies respiratoires rares, service de pneumologie pédiatrique, hôpital Armand-Trousseau, AP-HP, 75571 Paris cedex 12, France. aline.tamalet@cegetel.net
Abstract:
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia. Prevalence, about 1/15,000 to 1/30,000, is probably underestimated, as diagnosis might not be evocated in absence of Kartagener syndrome. Diagnosis is confirmed in presence of abnormal ciliary motility as well as ciliary ultrastructure. Disease-causing mutations in at least 16 genes have already been identified; analysis will be guided by the type of ultrastructural abnormalities. An early and adequate diagnosis and therapy can theoretically improve the prognosis of the disease.
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