Primary ciliary dyskinesia (PCD) is a progressive disorder affecting organ systems that rely on ciliary activity for proper function. (Click here for CILIA VIDEO) 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. 

As interest in the field of ciliopathies continues to grow, it is the goal of the PCD Foundation to be at the forefront of research and educational efforts aimed at understanding the role of cilia in human disease.  Through these efforts, we hope to improve the lives and medical outcomes of people with PCD and, eventually, to find a cure.