Disease at a Glance

Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don't move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities. For example, their heart may be on the right side of their chest instead of the left. Almost all males with PCD are infertile. PCD is caused by genetic changes in one of over 30 different genes involved in the formation of cilia, and is usually inherited in an autosomal recessive pattern in families. It is diagnosed based on the clinical symptoms. Other diagnostic tests may include ciliary analysis and genetic testing.
Estimated Number of People with this Disease
In the U.S. there may be between

30,000 to 200,000

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Before Birth
Newborn Selected
Birth-4 weeks
1-23 months
2-11 years
12-18 years
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).


These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

45 Symptoms

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Genetic Disease

Primary ciliary dyskinesia is a genetic disease, which means that it is caused by one or more genes not working correctly.

The following gene(s) are known to be associated with this disease: DNAH1, TTC12, NEK10, PIH1D3, CFAP221, SPEF2, DNAJB13, TTC25, MCIDAS, GAS2L2, OFD1, DNAH11, DNAH5, DNAI1, NME8, DNAI2, DNAAF2, RSPH9, RSPH4A, DNAAF1, CCDC39, CCDC40, DNAL1, DNAAF3, CCDC103, HEATR2, HYDIN, LRRC6, CCDC114, DRC1, ARMC4, DYX1C1, RSPH1, ZMYND10, C21orf59, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, RPGR, STK36, FOXJ1, DNAH9, LRRC56, CFAP300



All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):


Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021