Primary ciliary dyskinesia

What causes primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) results from mutations in over 30 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. 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). 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.

Last updated on 05-01-20

How is primary ciliary dyskinesia inherited?

Most cases of primary ciliary dyskinesia (PCD) are inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. To have PCD, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to have the disorder
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

Very rarely, PCD is inherited in an X-linked recessive pattern.

Last updated on 05-01-20

How many people have been diagnosed with primary ciliary dyskinesia?

Unfortunately for rare diseases, there's often no official method for tracking these conditions. This makes it difficult to know exactly how many people have been diagnosed. It is estimated that primary ciliary dyskinesia is diagnosed in 1 out of every 16,000 people. This means that approximately 19,000 people in the United States have this condition.

Last updated on 05-01-20

How might I find a doctor that has knowledge of treating primary ciliary dyskinesia?

The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) to facilitate collaboration among experts in many different types of rare diseases. The goal of the network is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment. The RDCRN consists of 19 consortia and a Data and Technology Coordinating Center (DTCC). One of these consortia is the Genetic Disorders of Mucociliary Clearance Consortium:
http://rarediseasesnetwork.epi.usf.edu/gdmcc/learnmore/index.htm#pcd

On this Web site, you can also find Participating Clinical Centers, which treat people with primary ciliary dyskinesia. Click on the link to view a list of these centers.

If it is not possible to get to one of these expert clinics, you can also try finding a cystic fibrosis clinic where doctors are usually familiar with mucociliary clearance disorders. The Cystic Fibrosis Foundation maintains a list of certified cystic fibrosis centers on their Web site:
[http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation- accreditedCareCenters/

](http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation- accreditedCareCenters/)The Primary Ciliary Dyskinesia Foundation can also help you to find a doctor in your area who is familiar with this condition. You can e-mail them at: info@pcdfoundation.org/

Last updated on 05-01-20

Is there a support group for individuals and families with primary ciliary dyskinesia?

There are several online support groups for families and individuals with Primary Ciliary Dyskinesia:

The Primary Ciliary Dyskinesia Family Support Group offers an "Online Community" feature on their website where people can post questions and discuss living with this condition.

The Primary Ciliary Dyskinesia Foundation offers a forum for sharing information and resources.

Last updated on 05-01-20

What is the employment status of people with primary ciliary dyskinesia?

There is no specific information available about the employment status of people with primary ciliary dyskinesia. Information from the Primary Ciliary Dyskinesia Foundation states that most affected individuals can expect to lead productive lives with treatment.

Last updated on 05-01-20

What is the long-term outlook for people with primary ciliary dyskinesia?

The long-term outlook for people with primary ciliary dyskinesia (PCD) is dependent on severity of respiratory symptoms. Generally, PCD is not thought to be life-threatening, but severe lung and airway disease can lead to permanent damage. Ear infections that occur frequently can lead to hearing loss, which is sometimes permanent. Early diagnosis and treatment seems to improve long-term outcomes.

Last updated on 05-01-20

How many people have primary ciliary dyskinesia?

It is thought that about 1/16,000 – 1/20,000 people have primary ciliary dyskinesis (PCD). The incidence is higher in Norway and Japan. In the United States, it is estimated that about 12-17 thousand people have PCD.

Last updated on 05-01-20

How might primary ciliary dyskinesia be treated?

There is no specific treatment for primary ciliary dyskinesia (PCD). 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.

Last updated on 05-01-20

Clinical Research Resources

Genetic Disorders Of Mucociliary Clearance Consortium

The Genetic Disorders Of Mucociliary Clearance Consortium **** is a network of nine North American Centers that are collaborating in diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance, including idiopathic bronchiectasis and infection with non- tuberculous mycobacterial (NTM) organisms. Ultimately, GDMCC hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.

Last updated on 04-27-20

Name: American Lung Association 55 W. Wacker Drive, Suite 1150
Chicago, IL, 60601, United States
Toll Free: 1-800-548-8252 (1-800-LUNGUSA) Email: info@lung.org Url: https://www.lung.org/
Name: Primary Ciliary Dyskinesia (PCD) Foundation 10137 Portland Avenue South
Minneapolis, MN, 55420, United States
Toll Free: 1-844-CURE-PCD (1-844-287-3723) Email: info@pcdfoundation.org Url: http://www.pcdfoundation.org
Name: Primary Ciliary Dyskinesia Family Support Group Email: http://pcdsupport.org.uk/contact-us/ Url: http://www.pcdsupport.org.uk
Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia GeneReviews. Updated Sept 3, 2015; Reference Link Primary ciliary dyskinesia Genetics Home Reference (GHR). Updated Apr 2014; Reference Link Primary Ciliary Dyskinesia National Organization for Rare Disorders (NORD). Updated 2015; Reference Link 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. Reference Link Knowles M, Zariwala MA, Leigh M. Primary ciliary dyskinesia Clin Chest Med. 2016; 37(3). 449-461. Reference Link

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