About primary ciliary dyskinesia (PCD)

What is primary ciliary dyskinesia? 

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects around 1 in 7,500 people. PCD prevents the person’s cilia from working properly. Cilia are microscopic hair-like structures that are found throughout the body, including in the nose and lungs.  

Healthy cilia beat back and forwards. This sweeping action helps to move mucus, bacteria and other particles, like dust, out of the respiratory system. In PCD, the cilia are unable to move in the usual way or don’t move at all. This means that mucus and secretions build up and patients are more likely to get infections in their lungs, sinuses, ears and nose.  

What are the challenges of living with PCD? 

PCD affects people in different ways. The most common symptoms of PCD are frequent or chronic lung infections, progressive lung damage (bronchiectasis), runny or blocked nose, sinus problems and glue ear and ear infections. PCD can also cause fertility issues. Half of people with PCD have situs inversus, which means that the position of their internal organs is reversed. People with PCD often undergo intensive daily sessions of chest physiotherapy to clear secretions from the airways with the aim of preventing a decline in lung function.  

PCD can look different depending on which gene is affected. So far, more than 55 different genes have been linked to PCD.  

People living with PCD can experience significant delays in diagnosis. This can be related to a lack of awareness of PCD or difficulty accessing diagnostic services. There may also be uncertainty about how their condition will develop over time. Living with a rare disease can affect mental health and wellbeing. For example, when a condition has a genetic cause, people can feel worried about how their family may be affected. 

What care and support is available? 

There are currently no therapies that can repair abnormal ciliary function. People with PCD are advised to undertake daily chest physiotherapy to clear secretions. This helps to reduce the buildup of mucous that can lead to infection, inflammation and lung damage. They can also receive targeted or long-term courses of antibiotics to treat and reduce infections.

PCD is a serious condition but some patients have more severe symptoms than others. In a small number of people, PCD results in respiratory failure or the need for a lung transplant.

Remember, every person is different. Always ask your doctor or another trained health professional if you have concerns about your health. If you have PCD and live in the UK, we encourage you to seek advice from PCD specialist services within the NHS.

Learn how our Centre is working to improve the diagnosis and treatment of PCD >