Primary Ciliary Dyskinesia (PCD), also known as Immotile Cilia Syndrome, is a rare genetic birth defect that involves the blocking of respiratory passages. Patients with PCD have abnormal or absent ciliary motion. Cilia are tiny hair-like structures that move mucus out of the respiratory passages. During infections more mucus is produced and because the abnormal cilia can't move or move ineffectively, mucus becomes stuck and blocks the respiratory tract, causing various complications.
PCD is commonly characterized by chronic sinusitis and bronchiectasis. Bronchiectasis occurs when the bronchial tubes are blocked and chronically infected, causing the tubes to weaken and stretch out. The widened tubes allow more mucus and bacteria to accumulate, leading to infection and possibly pneumonia. Trapped mucus can also cause difficulty breathing, wheezing, and coughing to clear the mucus.
It is estimated that the prevalence of PCD is approximately 1 in 16,000 live births.
It is difficult to diagnose PCD because of its similarities to cystic fibrosis and other more common diseases. The only definitive way of detecting PCD is with a biopsy. Research for genetic testing of PCD is in progress.
There is currently no cure for PCD, but patients are generally treated for respiratory tract infections with antibiotics and close observation to prevent bronchiecstasis. A doctor or therapist can also recommend various techniques to clear mucus. If mild or moderate, PCD patients receiving proper treatment and monitoring can expect to live a full life.
For more information on PCD, call your local American Lung Association at 1-800-LUNG-USA (1800-586-4872).