Abstract

Primary ciliary dyskinesia (PCD) is a an autosomal recessive disease affecting approximately 1 in 15,000–20,000 individuals. There have been many advances in the diagnosis and management of PCD in the last few years, including advanced genetic sequencing, nasal nitric oxide assay, and ciliary motility tests. This review focuses on the clinical features of ciliary dyskinesias, screening, diagnostic tests, and management.