Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disorder of motile cilia that leads to chronic respiratory disease. Current estimate for the prevalence is similar to 1 in 15,000-20,000 individuals in the USA; this number is likely to change with increased awareness and improved diagnostic methods. There has been a striking increase in interest in the disease in recent years, leading to an increased understanding of the phenotype. The use of genetic testing has greatly aided the diagnosis of PCD and further helped the understanding of the pathogenesis of the disease. In parallel, the establishment of longitudinal clinical studies and the establishment of disease registries are helping to understand the natural history of the disease; all of which will help in developing clinical trials and better treatment guidelines. This review will focus on recent advances in our understanding of this interesting disease after a brief general overview.