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Primary ciliary dyskinesia

Reviewed August 2010

What is primary ciliary dyskinesia?

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures similar to cilia that propel sperm cells forward.

In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (the bronchi) and can cause life-threatening breathing problems.

Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.

At least 6 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, and/or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.

Primary ciliary dyskinesia can also affect the ability to have children (fertility). Vigorous movements of the flagellum are necessary to propel the sperm cell forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.

Other features of primary ciliary dyskinesia include an accumulation of fluid in the brain (hydrocephalus) and recurrent ear infections (otitis media). Otitis media is especially common in young children with this condition and can lead to permanent hearing loss if untreated. These features of primary ciliary dyskinesia are likely related to abnormal cilia within the brain and inner ear.

How common is primary ciliary dyskinesia?

Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.

What genes are related to primary ciliary dyskinesia?

Primary ciliary dyskinesia can result from mutations in at least nine different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the left-right axis (the imaginary line that separates the left and right sides of the body) during embryonic development.

Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms.

Mutations in the DNAI1 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.

Related Gene(s)

Changes in these genes are associated with primary ciliary dyskinesia.

  • CCDC39
  • CCDC40
  • DNAAF1
  • DNAAF2
  • DNAH11
  • DNAH5
  • DNAI1
  • DNAI2
  • NME8
  • RSPH4A
  • RSPH9

How do people inherit primary ciliary dyskinesia?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of primary ciliary dyskinesia?

These resources address the diagnosis or management of primary ciliary dyskinesia and may include treatment providers.

  • American Lung Association: Primary Ciliary Dyskinesia Symptoms, Diagnosis, and Treatment (http://www.lung.org/lung-disease/primary-ciliary-dyskinesia/symptoms-diagnosis-and.html)
  • Gene Review: Primary Ciliary Dyskinesia (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675867)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 11 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675229)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 12 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675228)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 13 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2750790)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 14 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151136)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 15 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151137)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 16 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151460)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 17 (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN128721)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1847554)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837618)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837616)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837615)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 6 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1970506)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 7 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2678473)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 8 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2677085)
  • Genetic Testing Registry: Ciliary dyskinesia, primary, 9 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2676235)
  • Genetic Testing Registry: Kartagener syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0022521)
  • Genetic Testing Registry: Primary ciliary dyskinesia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0008780)

You might also find information on the diagnosis or management of primary ciliary dyskinesia in Educational resources (http://www.ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about primary ciliary dyskinesia?

You may find the following resources about primary ciliary dyskinesia helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Bronchiectasis (http://www.nlm.nih.gov/medlineplus/ency/article/000144.htm)
    • Encyclopedia: Respiratory Cilia (http://www.nlm.nih.gov/medlineplus/ency/imagepages/19533.htm)
    • Encyclopedia: Sperm (http://www.nlm.nih.gov/medlineplus/ency/imagepages/19471.htm)
    • Health Topic: Female Infertility (http://www.nlm.nih.gov/medlineplus/femaleinfertility.html)
    • Health Topic: Hydrocephalus (http://www.nlm.nih.gov/medlineplus/hydrocephalus.html)
    • Health Topic: Lung Diseases (http://www.nlm.nih.gov/medlineplus/lungdiseases.html)
    • Health Topic: Male Infertility (http://www.nlm.nih.gov/medlineplus/maleinfertility.html)

  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases

    • Genetic and Rare Diseases Information Center: Kartagener syndrome (http://rarediseases.info.nih.gov/gard/6815/resources/resources/1)
    • Genetic and Rare Diseases Information Center: Primary ciliary dyskinesia (http://rarediseases.info.nih.gov/gard/4484/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Heart Lung and Blood Institute: Bronchiectasis (http://www.nhlbi.nih.gov/health/health-topics/topics/brn/)

  • Educational resources - Information pages

    • Genetic Diseases Of Mucociliary Clearance Consortium (http://rarediseasesnetwork.epi.usf.edu/gdmcc/learnmore/faqs.htm)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=216)
    • Merck Manual Home Edition for Patients and Caregivers: Bronchiectasis (http://www.merckmanuals.com/home/lung_and_airway_disorders/bronchiectasis_and_atelectasis/bronchiectasis.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=665)

  • Patient support - For patients and families

    • American Lung Association (http://www.lung.org/lung-disease/primary-ciliary-dyskinesia/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/526/viewAbstract)
    • PCD Family Support Group (UK) (http://www.pcdsupport.org.uk/)
    • PCD Foundation (http://www.pcdfoundation.org/)
    • RESOLVE: The National Infertility Association (http://www.resolve.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Ciliary dyskinesia, primary, 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675867)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 11 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675229)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 12 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2675228)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 13 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2750790)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 14 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151136)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 15 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151137)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 16 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151460)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 17 (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN128721)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1847554)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837618)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837616)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837615)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 6 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1970506)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 7 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2678473)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 8 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2677085)
    • Genetic Testing Registry: Ciliary dyskinesia, primary, 9 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2676235)
    • Genetic Testing Registry: Kartagener syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0022521)
    • Genetic Testing Registry: Primary ciliary dyskinesia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0008780)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22primary%20ciliary%20dyskinesia%22%20OR%20%22Ciliary%20Motility%20Disorders%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Ciliary%20Motility%20Disorders%5BMAJR%5D)%20AND%20((primary%20ciliary%20dyskinesia%5BTIAB%5D)%20OR%20(immotile%20cilia%20syndrome%5BTIAB%5D)%20OR%20(pcd%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • CILIARY DYSKINESIA, PRIMARY, 1 (http://omim.org/entry/244400)
    • CILIARY DYSKINESIA, PRIMARY, 10 (http://omim.org/entry/612518)
    • CILIARY DYSKINESIA, PRIMARY, 11 (http://omim.org/entry/612649)
    • CILIARY DYSKINESIA, PRIMARY, 12 (http://omim.org/entry/612650)
    • CILIARY DYSKINESIA, PRIMARY, 13 (http://omim.org/entry/613193)
    • CILIARY DYSKINESIA, PRIMARY, 14 (http://omim.org/entry/613807)
    • CILIARY DYSKINESIA, PRIMARY, 15 (http://omim.org/entry/613808)
    • CILIARY DYSKINESIA, PRIMARY, 2 (http://omim.org/entry/606763)
    • CILIARY DYSKINESIA, PRIMARY, 3 (http://omim.org/entry/608644)
    • CILIARY DYSKINESIA, PRIMARY, 4 (http://omim.org/entry/608646)
    • CILIARY DYSKINESIA, PRIMARY, 5 (http://omim.org/entry/608647)
    • CILIARY DYSKINESIA, PRIMARY, 6 (http://omim.org/entry/610852)
    • CILIARY DYSKINESIA, PRIMARY, 7 (http://omim.org/entry/611884)
    • CILIARY DYSKINESIA, PRIMARY, 8 (http://omim.org/entry/612274)
    • CILIARY DYSKINESIA, PRIMARY, 9 (http://omim.org/entry/612444)

What other names do people use for primary ciliary dyskinesia?

  • immotile cilia syndrome
  • PCD

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about primary ciliary dyskinesia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding primary ciliary dyskinesia?

autosomal ; autosomal recessive ; axis ; bacteria ; bronchi ; bronchiectasis ; cell ; chronic ; dyskinesia ; egg ; embryonic ; fertility ; gene ; hydrocephalus ; infection ; infertility ; mucus ; otitis media ; recessive ; respiratory ; sperm ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

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  • Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19410201?dopt=Abstract)
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  • Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature. 2008 Dec 4;456(7222):611-6. doi: 10.1038/nature07471. (http://www.ncbi.nlm.nih.gov/pubmed/19052621?dopt=Abstract)
  • Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999 Dec;65(6):1508-19. (http://www.ncbi.nlm.nih.gov/pubmed/10577904?dopt=Abstract)
  • Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat. 2008 Feb;29(2):289-98. (http://www.ncbi.nlm.nih.gov/pubmed/18022865?dopt=Abstract)
  • Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19876930?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2010
Published: May 13, 2013