Pathophysiology of the ciliary motility syndromes

The ciliary motility syndromes are characterised by specific and genetically determined defects of cilia with resulting impairment of mucociliary defense mechanisms in the respiratory tract. The ciliary pathobiology, clinical observations, serial pulmonary function and chest radiographs are reviewed and correlated for a series of 33 patients with the ciliary motility syndromes, aged from 0.5 to 75 years. The clinical course and progressive nature of this disease emphasizes the importance of early and accurate diagnosis to prevent irreversible pulmonary damage.