This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don’t move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities. For example, their heart may be on the right side of their chest instead of the left. Almost all males with PCD are infertile.
PCD is caused by mutations in one of over 30 different genes involved in the formation of cilia, and is usually inherited in an autosomal recessive pattern in families. It is diagnosed based on the clinical symptoms. Other diagnostic tests may include ciliary analysis and genetic testing. Treatment is based on taking care of the symptoms. The long-term outlook for people with PCD depends on the severity of the symptoms. People with frequent lung infections may experience permanent lung damage and require lung transplant. Early diagnosis and treatment may improve the long-term outlook for people with PCD.
For more information, visit GARD.