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Disease Profile

Primary ciliary dyskinesia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q34.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ciliary dyskinesia primary; Polynesian bronchiectasis; Immotile cilia syndrome;

Categories

Congenital and Genetic Diseases; Lung Diseases; Male Reproductive Diseases;

Summary

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.[1][2][3] 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 mutations 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. Treatment is based on taking care of the symptoms. The long-term outlook for people with PCD depends on the severity of the symptoms. People with frequent lung infections may experience permanent lung damage and require lung transplant. Early diagnosis and treatment may improve the long-term outlook for people with PCD.[4][5]

Symptoms

Primary ciliary dyskinesia (PCD) causes respiratory disease that occurs in the lungs, nasal and sinus passages and ear canals. This leads to continuous nasal congestion and coughing. More than 75% of full-term infants with PCD have trouble breathing right after birth (neonatal respiratory distress) and require extra oxygen. On-going (chronic) airway infections begin in early childhood and can lead to permanent damage (bronchiectasis). Nasal congestion, sinus infections, and ear infections also begin in early childhood and continue throughout adulthood. Nearly all people with PCD will cough frequently.[5][6]

About 50% of people with PCD will have abnormalities in the placement of their body organs, known as situs abnormalities.[6] An example is having the heart on the right side of the chest instead of the left side. Situs abnormalities can include situs inversus totalis (mirror-image reversal of the internal organs with no apparent symptoms) or heterotaxy, where the organs are abnormally arranged. People with heterotaxy often have congenital heart defects. Almost all males with PCD are infertile because of abnormal movement of the sperm. The symptoms of PCD can vary and not everyone with PCD has the same symptoms.[5][6]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal sperm motility
0012206
Chronic otitis media
Chronic infections of the middle ear
0000389
Chronic rhinitis
0002257
Chronic sinusitis
0011109
Male infertility
0003251
Nasal obstruction
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose

[ more ]

0001742
Nasal polyposis
0100582
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal

[ more ]

0002643
Productive cough
Wet cough
0031245
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinopulmonary infections
Recurrent sinus and lung infections
0005425
5%-29% of people have these symptoms
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Clubbing
Clubbing of fingers and toes
0001217
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Ectopic pregnancy
0031456
Female infertility
0008222
Lithoptysis
0032543
Peribronchovascular interstitial thickening
0025177
Pulmonary obstruction
Obstructive lung disease
0006536
Pulmonary situs ambiguus
0011617
Recurrent mycobacterial infections
0011274
Situs inversus totalis
All organs on wrong side of body
0001696
Wheezing
0030828
1%-4% of people have these symptoms
Abnormal inferior vena cava morphology
0025576
Anomalous pulmonary venous return
0010772
Asplenia
Absent spleen
0001746
Atrial situs ambiguous
0011539
Double outlet right ventricle
0001719
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Intestinal malrotation
0002566
Persistent left superior vena cava
0005301
Polysplenia
Multiple small spleens
0001748
Respiratory failure
0002878
Rod-cone dystrophy
0000510
Transposition of the great arteries
0001669
Ventriculomegaly
0002119

Cause

Primary ciliary dyskinesia (PCD) results from mutations in over 30 different genes.[1][5][6]These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Proper movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps organ placement during embryonic development. Mutations in the genes that cause PCD result in defective cilia that move abnormally or are unable to move (immotile).[6] Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. About 70% of people with PCD will have a mutation that can be identified by genetic testing.[1][4][6]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    There is no specific treatment for primary ciliary dyskinesia (PCD).[4][5] Treatment is focused on the symptoms. People with PCD may be treated with chest physical therapy and breathing exercises to help remove excess mucous. Other treatments may include inhalants to help with breathing, and antibiotics to help treat and prevent infections. Surgery may be necessary to correct heart defects, and to remove damaged lung tissue. For people with severe lung and airway damage, lung transplant may be an option. Males with infertility may want to consider using donor sperm or intracytoplasmic sperm injection (ICSI) to have children. People with PCD should avoid smoking and exposure to smoke in general. In addition, regular exercise can strengthen the lungs and may improve lung function.[4][5]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Primary ciliary dyskinesia in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary ciliary dyskinesia. Click on the link to view a sample search on this topic.

            References

            1. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. Updated Sept 3, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1122/.
            2. Primary ciliary dyskinesia. Genetics Home Reference (GHR). Updated Apr 2014; https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
            3. Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). Updated 2015; https://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/.
            4. Sharpiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel, SD, et al. (The Genetic Disorders of Mucociliary Clearance Consortium). Diagnosis, Monitoring, and Treatment of Primary Ciliary Dyskinesia: PCD Foundation Consensus Recommendations Based on State of the Art Review. Pedia Pulmon. 2016; 51:115-132. https://onlinelibrary.wiley.com/doi/epdf/10.1002/ppul.23304.
            5. Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: An update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr. Jun 2017; 5:135. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465251/.
            6. Knowles M, Zariwala MA, Leigh M. Primary ciliary dyskinesia. Clin Chest Med. 2016; 37(3):449-461. https://www.ncbi.nlm.nih.gov/pubmed/27514592.
            7. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; https://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 3/15/2011.

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