Primary Ciliary Dyskinesia (PCD)

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Primary ciliary dyskinesia (PCD) is a progressive disorder affecting organ systems that rely on ciliary activity for proper function.  These organ systems include the upper and lower respiratory tract, the middle ear and the reproductive organs.  Other ciliated areas, such as the ventricles of the brain, may be affected but this appears to be very rare.  Effective ciliary activity appears to be required for organ development and placement during embryonic development, so approximately 50% of patients with PCD have a condition called situs inversus totalis with complete mirror-image organ placement in the thoracic and abdominal cavities.  A small number of affected individuals have heterotaxy syndromes.  Congenital heart defects, intestinal malrotation and splenic abnormalities (particularly polysplenia) and other defects have been reported in PCD.  

Preventing progressive lung disease is the most pressing treatment goal for PCD patients and caregivers.  With aggressive intervention, it is possible to maintain stable lung function for many years and with a commitment to daily therapy, many PCD patients do well for a long time. However, there is a wide spectrum of severity in PCD with some affected individuals progressing to advanced lung disease and the need for transplant in early adulthood.
Based on genetics, there are an estimated 25,000 PCD patients in the United States.  Currently though there are a little over 1000 confirmed diagnoses in North America.

For more information about PCD, click on one of the links below, or visit the PCD Foundation website at .

PCD Foundation Fact Sheet
PCD Foundation Brochure
PCD Foundation FAQs