Primary Ciliary Dyskinesia (PCD)

PCD is passed down through faulty genes but many families are unaware of other relatives with the condition. It affects about 1 in 7,500 people. Symptoms usually start in babies, but diagnosis can happen later because the condition is rare and not widely known.

PCD can affect people differently. Symptoms may include:

• A wet, chesty cough
• Regular chest infections and hospital visits for lung infections
• Blocked or runny nose causing regular sinus infections
• Ear infections leading to hearing problems
• Babies may have difficulty breathing

For many people living with PCD, repeated symptoms in the lungs and sinuses can lead to bronchiectasis and long-term sinus problems.

PCD can also affect other parts of the body, including making it harder for both men and women to have children (fertility problems). People with PCD are more likely to have a condition called situs inversus, where the heart or other organs are on the opposite side of the body. If the heart is affected, this can sometimes cause heart problems.

Healthcare providers may suspect PCD if a child or adult has several of these signs, particularly if symptoms start early, lung infections keep coming back or a family history of PCD.

Diagnosis usually takes place in specialist PCD centres, which offer expert care from teams of doctors, scientists and genetic specialists. These centres can perform diagnosis tests and provide ongoing support for people with PCD.

Diagnosis is confirmed by:

• Genetic testing: Changes in certain genes can make cilia work differently. Genetic testing usually involves a blood or saliva sample to check for genes known to cause PCD. It is important to know that a normal genetic test does not completely rule out PCD. Sometimes other tests are needed to confirm a diagnosis.
• Electron microscopy: A tiny sample of cells is gently collected from inside the nose using a soft brush. These cells are examined under a special microscope to check whether the cilia structure looks normal.

Testing may include:

• Nasal nitric oxide (nNO): you breathe through a small tube from your nose to measure nitric oxide, which is usually low in PCD patients
• High-speed video microscopy (HSVM): a tiny sample of cilia is taken from inside the nose with a small brush and observed under a microscope to see how they beat
• Immunofluorescence: the presence or absence of key proteins that make up cilia are assessed under the microscope

Not all genes and mutations causing PCD are currently known, so a normal genetic test does not exclude PCD and a combination of several tests is usually required.

Diagnosis can be made at any age, including in newborns with unexplained breathing problems.

Across Europe, specialist centres are not available in every country and access to testing and care can vary. In some countries, patients can self-refer, while in others a referral from a family/local doctor is required. International collaborations aim to improve diagnosis, raise awareness and reduce these differences in care. Patient advocacy groups also work to make sure families know about specialist centres and available support.

PCD is caused by changes in genes that are passed down from your parents, which affect how cilia work.

For most people with PCD, a faulty gene is passed down from each parent and in this case the parents usually do not have PCD themselves. In less common cases, PCD can be passed down even if only one parent has a faulty gene. PCD is also more common in families where the parents are closely related.

PCD is not contagious and cannot be caused by anything in your environment.

While PCD cannot be prevented, understanding its genetic cause can help families plan ahead and take steps to protect lung health. Families who are concerned about passing PCD to their children can explore options for genetic counselling at a specialist centre. Any family member who may be affected can also be referred for testing at any age.

There is currently no cure for PCD. Treatment focuses on preventing infections, keeping the lungs working well and managing other symptoms. Care is tailored to each person, often by a specialist PCD team.

Chest physiotherapy and exercise
Exercises and breathing techniques, sometimes with special equipment, help move mucus out of the lungs. Most people do physiotherapy twice a day, but your physiotherapist will decide what is best for you. Staying active also helps clear mucus and keep lungs healthy. Physical activity is very important for maintaining health in PCD.

Inhaled therapies
Many people benefit from breathing in (inhaling) hypertonic saline twice a day, which help loosen mucus.

Antibiotics
Antibiotics are used to treat infections and sometimes taken regularly to prevent infections. Doctors monitor treatment carefully to reduce the risk of antimicrobial resistance (AMR). Medications can be as tablets, breathed in using a nebuliser, or for serious infections, may be taken through a drip (intravenously/(IVs)) in hospital.

Ear, nose and throat care
Nasal rinses with a saltwater solution help prevent sinus infections. Hearing aids may be needed for hearing loss. Regular reviews with an Ear Nose and Throat (ENT) specialist help manage these symptoms.

Other specialist care
Fertility support is available for those planning a family. Dieticians or gastroenterologists may help with nutrition or reflux problems and psychological support can be provided if needed.

Lifestyle measures
Regular physical activity, avoiding smoking and second-hand smoke and staying up-to-date with seasonal vaccines (e.g., influenza and pneumococcal) help maintain overall health and reduce infections.

Early treatment and monitoring
Regular chest physiotherapy, monitoring and prompt treatment of infections can reduce the risk of long-term lung damage.

PCD affects everyone differently. Most people with PCD can lead active lives, attend school or work and take part in many activities. Some may need extra time for physiotherapy, medical appointments or hearing support. Schools, workplaces and healthcare teams should provide adjustments if needed. In some countries, your PCD team may be able to visit your school or liaise with your workplace to ensure you get the support you need.

Good hand hygiene, avoiding second-hand smoke and quick treatment of infections help prevent complications. If anyone around you is unwell, you may wish to minimise close contact and it is important that family and carers stay up-to-date with seasonal vaccinations.

Maintaining a healthy weight, eating a nutritious diet and doing regular physical activity supports overall fitness and helps keep your lungs healthy.

PCD affects people differently and symptoms can vary depending on the specific gene involved. Lung function may get worse over time and problems with the ears, sinuses and fertility may continue.

The aim of current treatments, such as chest physiotherapy, inhaled therapies and antibiotics, is to prevent or slow down any lung damage.

With early diagnosis, specialist care and regular management, many people with PCD have a good quality of life and near-normal lifespan. Scientists are still learning how PCD affects people overtime and how different genes make a difference.

• BEAT-PCD: research and guidelines for clinicians
• BEAT-PCD network of patient organisations
• PCD Support UK: patient support and information
• PCD Foundation (USA): support and resources
• Living with PCD study: patient-led research with summaries in multiple languages
• ERS/ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

This page was developed by ELF and BEAT-PCD, the European Respiratory Society Clinical Research Collaboration for Primary Ciliary Dyskinesia (PCD).

Last updated: February 2026