Primary ciliary dyskinesia

Overview

Primary ciliary dyskinesia (PCD) is a rare inherited condition where the tiny hair-like structures (cilia) that line your airways, sinuses, and ears do not work properly. Normally, cilia beat in a coordinated way to move mucus out of the lungs, keeping them clear. In PCD, mucus builds up, causing repeated infections and long-term lung problems. It can also affect the middle ear, sinuses, and, in some people, the position of organs.

No. PCD is rare. It is thought to affect about 1 in 10,000 to 20,000 people worldwide, though the exact number is uncertain.

PCD affects males and females equally. Symptoms usually begin in early childhood, but the condition may be diagnosed at any age. You are more likely to have PCD if you have a family history of the condition.

Symptoms

Common symptoms

• A constant wet-sounding cough that has lasted for a long time
• Frequent chest infections, such as bronchitis or pneumonia
• Chronic nasal congestion or a constantly runny nose
• Recurrent sinus infections (sinusitis)
• Repeated ear infections, especially in children

Symptoms in children

• Breathing trouble just after birth (neonatal respiratory distress)
• A cough that does not go away and produces mucus
• Frequent colds, chest infections, or pneumonia
• Ongoing blocked nose
• Middle ear infections and possible hearing loss

Symptoms in older adults

• Increasing breathlessness or difficulty breathing
• A chronic cough with mucus
• Repeated sinus infections
• Male infertility due to sperm not moving properly
• Worsening tiredness or fatigue

Causes

Main causes

• Primary ciliary dyskinesia is caused by changes (mutations) in genes that control the structure or function of cilia. These gene changes are inherited from parents.
• The condition is usually autosomal recessive, meaning a child must inherit the faulty gene from both parents.

Risk factors

• Having a family history of PCD is the main risk factor.
• If you are a parent with PCD, your children are at risk. Brothers and sisters of someone with PCD also carry a higher risk.

When to see a doctor

See a doctor urgently if:

• If you or your child have a high fever, a worsening cough, or breathing becomes more difficult, see a doctor or urgent care the same day.
• Seek medical care promptly if symptoms are new, severe, or not getting better.

Book a routine appointment if:

• Make an appointment with your primary care provider if you or your child has a persistent cough, repeated chest or sinus infections, or hearing problems.
• Ask for a referral to a specialist if PCD is suspected.

Diagnosis

To diagnose PCD, a doctor usually takes a detailed history and examines the nose and chest. If PCD is suspected, you will be referred to a specialist respiratory centre. Several tests are used together because no single test can confirm PCD in every person.

Tests that may be done

• Nasal nitric oxide test — measures a gas in the air from the nose; levels are often very low in PCD
• Genetic blood test — looks for changes in cilia-related genes
• Cilia biopsy — a small sample of cilia is taken from the nose or windpipe and studied under a microscope
• Sperm motility test — for males to check whether sperm are moving normally

What to expect at your appointment

The diagnostic process often takes time. Specialists may repeat tests, and results can take several months to come back. During this period, your medical team will guide you on managing symptoms while waiting for a final diagnosis.

Treatment

There is no cure for PCD, but a clear treatment plan can help keep lungs healthy, fight infections early, and improve quality of life. Treatment typically involves daily airway clearance, medicines to manage infection and inflammation, and regular monitoring.

Self-care at home

• Perform daily airway clearance using techniques like chest physiotherapy to help loosen mucus
• Stay physically active to help clear lung secretions
• Drink plenty of fluids to keep mucus thin
• Avoid tobacco smoke and dusty environments

Medical treatments

Your healthcare team will work with you to choose treatments based on your symptoms. This may include antibiotics to treat bacterial infections, inhaled medicines to help open the airways or thin mucus, and early, aggressive treatment of chest infections. The goal is to reduce damage to the lungs and prevent severe infections.

When is surgery considered?

Surgery is not usually needed for PCD, but sometimes it may be considered for complications such as severe sinus disease, ear issues, or very rarely, removal of a damaged part of the lung.

Living with this condition

Living with PCD usually means making airway clearance part of your daily routine, staying in close contact with your medical team, and learning to recognise early signs of infection. Many people with PCD manage well and lead full, active lives.

Lifestyle tips

• Follow an exercise routine that you enjoy — walking, swimming, or cycling can help
• Eat a balanced diet and get enough sleep to support your immune system
• Keep up to date with vaccinations, especially flu vaccine (ask your healthcare provider)

Diet and exercise

Regular exercise helps your heart and lungs and may make it easier to clear mucus. A balanced diet with plenty of fruits, vegetables, and fluids helps keep your body strong. Ask your team for advice if you have trouble maintaining weight.

Mental health and emotional wellbeing

Living with a chronic condition can sometimes cause worry, low mood, or stress. It is normal to feel this way. Talk to your healthcare provider about your feelings; they can offer support and connect you with counselling services.

Prevention

PCD is a genetic condition, so it cannot be prevented. However, many complications can be prevented or delayed through early diagnosis, good treatment, and avoiding things that make breathing worse, such as smoking.

Vaccines

Routine vaccinations are important for people with PCD. Make sure you and your child are up to date with recommended vaccines, including flu and other respiratory vaccines. Ask your healthcare provider for a personalised vaccination plan.

Screening programmes

There is no routine screening for PCD in most countries. If you have a family history of PCD and are planning a family, genetic counselling may help you understand the risks.

Complications

If left untreated

• Long-term lung damage (bronchiectasis) from repeated infections
• Permanent hearing loss due to chronic ear infections
• Ongoing sinus disease
• Infertility in men, and sometimes increased risk in women

Long-term outlook

PCD is a life-long condition, but with good medical care, daily airway clearance, and a healthy lifestyle, most people can expect to remain active and have a good quality of life. Early and consistent management helps slow lung damage and prevent serious complications.

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