Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in a myriad of clinical manifestations including recurrent sinopulmonary disease, laterality defects and infertility. The heterogenous clinical presentation of primary ciliary dyskinesia and the limitations of transmission electron microscopy to assess ultrastructural defects within the cilium often delay diagnosis. Recent advances in the understanding of the basic biology and function of the cilium have led to potential diagnostic alternatives, including ciliary beat analysis and nasal nitric oxide measurements. Moreover, the identification of disease-causing mutations could lead to the development of comprehensive genetic testing that may overcome many of the current diagnostic limitations. Although the clinical manifestations of primary ciliary dyskinesia have been recognised for over a century, there are few studies examining treatments and standards of care have yet to be established. Multicentre collaborative efforts have been established in North America and Europe, which should help to develop standardised approaches to the diagnosis and treatment of primary ciliary dyskinesia.