what is pcd

Primary ciliary dyskinesia (PCD) is a rare, inherited disorder caused by defects in the structure and/or function of cilia, which are tiny hair-like structures that line the airways, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sperm cells. PCD affects the ability of cilia to move properly, leading to a buildup of mucus and infections in the respiratory system, ears, and sinuses. PCD is caused by genetic mutations that affect the cilia, and there are over 50 genes that can cause PCD. Symptoms of PCD typically appear shortly after birth or in early childhood, but may not be recognized and diagnosed for years. Decline in lung function in people with PCD has been observed in most studies, with FEV1 decline causing deterioration in health, impacting on, and reducing quality of life. Treatment of PCD focuses on maintaining breathing capacity and preventing serious infections from damaging the lungs.