What Is Primary Ciliary Dyskinesia

Stephanie Davis, MD, and Thomas Ferkol, MD, Professors of Medicine at University of North Carolina at Chapel Hill, and co-leaders of the Genetic Disorders Mucociliary Clearance Consortium, provide an overview of primary ciliary dyskinesia (PCD). PCD is a rare genetic disorder that results in abnormalities of the cilia. The ciliary dysfunction leads to impaired mucociliary clearance, which results in a myriad of symptoms, most notably chronic bronchitis, and wheezing. Repeated or persistent severe upper respiratory tract infections, typically chronic pansinusitis or suppurative otitis media, and infertility (in males), are also common. PCD is usually diagnosed via a genetic panel (more than 50 genes have been linked to this condition) and an examination of the ciliary ultrastructure, but as Drs Ferkol and Davis note, not all babies with PCD are picked up via those diagnostic tools. Symptom and symptom severity can vary greatly but babies with the following symptoms should be tested for PCD: • Neonatal respiratory distress (trouble breathing shortly after birth) in full-term babies, usually requiring oxygen therapy, and often lasting days to weeks • Daily, year-round, nasal congestion • Daily, year-round, wet (mucus-producing) cough • Chronic middle ear fluid and ear infections that can lead to hearing loss or speech difficulties • Chronic sinus infections • Situs inversus totalis (in approximately 50% of babies) At present, there is no treatment available to improve the dysfunctional cilia. Current treatment is limited to controlling the recurring infections and removing excess mucus buildup. Drs. Davis and Ferkol are proud to have led the GDMCC. Through the collaborative efforts of the DGMCC, our understanding of PCD has advanced significantly over the past decade and both doctors are looking forward to what the next 10 years bring. To learn more about DGMCC visit To learn more about RDCRN, visit CheckRare is collaborating with RDCRN to educate health care professionals one ways they can be part of this network to advance clinical research. Visit our collaboration page at