Cilia are tiny hair like structures on the cells in the body. Primary ciliary dyskinesia (PCD) is a rare, inherited, genetic disorder of these moving cilia.
Moving cilia perform an important role in the nose, ears, and airways within the lungs, working to remove unwanted inhaled particles and germs. Without properly functioning cilia, germ-filled mucus stays in the ears, nose, sinuses, and airways of the lungs, causing inflammation and repeated infections.
PCD causes frequent respiratory infections starting at a very early age that result in lifelong, progressive lung, sinus and ear disease. People with PCD benefit from early diagnosis and treatment to hopefully limit permanent lung damage.
Symptoms of PCD start very early in life, usually during the first year, and include:
- Neonatal respiratory distress (trouble breathing shortly after birth) in full-term babies, usually requiring oxygen therapy, and often lasting days to weeks
- Daily, year-round, nasal congestion
- Daily, year-round, wet (mucus-producing) cough
- Chronic middle ear fluid and ear infections that can lead to hearing loss or speech difficulties
- Chronic sinus infections
- “Sidedness” differences (having organs of the body on side over the other and vice versa), including congenital heart defects
- Male infertility (since sperm tails use the same genes as moving cilia)
- Reduced fertility in women (related to cilia dysfunction in the Fallopian tubes)