Table of ContentsView AllTable of ContentsHow It Affects YouCan It Make Me Sick?CausesDo You Have It?Other SymptomsDiagnosisTreatmentComplicationsLife ExpectancyCoping
Table of ContentsView All
View All
Table of Contents
How It Affects You
Can It Make Me Sick?
Causes
Do You Have It?
Other Symptoms
Diagnosis
Treatment
Complications
Life Expectancy
Coping
Primary ciliary dyskinesia (PCD) is a rare genetic disease that damages the cilia, the hairlike structures that protect your lungs and other tissues. When these tiny structures do not work, you become more prone toinfectionsin your ears, lungs, and sinuses.
The lifelong problem is often diagnosed at birth when babies have breathing problems. Since it is often missed unless it is severe, PCD can also be diagnosed for the first time in adults.
This article describes PCD causes, symptoms, diagnosis, and treatment. It also details ways to help maintain your health if you have this problem.
Carol Yepes / Getty Images
Primary Ciliary Dyskinesia Symptoms
PCD is considered a rare disease. It occurs in about 1 in 16,000 to 20,000 births.
The cilia in the lungs move back and forth in a coordinated way to helpmucustravel toward your throat. This helps to remove fluid, bacteria, and other particles from your lungs. However, people with PCD have genetic mutations that interfere with the normal beating of cilia, a process called dyskinesia.
How Can Nonfunctioning Cilia Make Me Sick?
What Causes PCD?
When both parents carry the gene for the PCD trait, they have the following risks of passing it on with each pregnancy:
How Do You Know You Have PCD?
Since symptoms of PCD are very similar to several other conditions, misdiagnosis is common even when testing is done. The diagnosis of PCD is often delayed or missed because symptoms are often confused with other conditions, including the following:
Other Symptoms of PCD
Symptoms of PCD usually start very early in life, often from birth. While treatments can help reduce infections, symptoms typically worsen and last a lifetime.
PCD Symptoms at Birth
The following PCD symptoms can be present at birth:
Ongoing PCD Symptoms
How Is PCD Diagnosed?
No specific test can confirm 100% of all cases of PCD, so getting an accurate diagnosis can be challenging. Since symptoms vary and are not specific to this disease, getting a diagnosis may require more than one test.
The diagnosis of PCD usually includes one or more of the following evaluations:
Other tests can also be used to establish a PCD diagnosis:
Tests to rule out diseases with similar symptoms like cystic fibrosis, asthma, or immune disorders.
What Is PCD Treatment Like?
Treatment is individualized and typically involves one or more of the following techniques:
Potential PCD Complications
While many people with PCD have only mild symptoms, the condition can potentially lead to serious problems. Having PCD increases your risk of the following complications:
What’s the Life Expectancy for People With PCD?
There is no formal evidence about the life expectancy of people with PCD. Anecdotal evidence indicates that having the condition may result in a reduced life span due to the effects of chronic respiratory disease and lung damage common with PCD. Overall, people with PCD experience a lifetime of significant illness and a decreased quality of life.
However, the reduction in lifespan and symptom intensity are not consistent across individuals. There is a wide range of disease progression and life expectancies with PCD. While there is no average life expectancy for PCD, some people with PCD live into their 70s or 80s.
Tips for Living With PCD
PCD can affect many aspects of your life. The physical and emotional impact of this condition can also affect your employment.
Depending on your symptoms, you may qualify for Social Security Insurance (SSI) and/or Social Security Disability (SSD) payments from theU.S. Social Security Administration.
To receive SSI and/or SSD benefits, you must apply for aid and meet thebasic requirements for a qualifying disabilitywith limited income and resources.
Summary
Primary ciliary dyskinesia (PCD) occurs when you have mutations in the genes that control the structure and function of cilia. This prevents these tiny structures from doing their job of protecting your airways from disease.
This chronic disease is often present at birth when it causes problems in normal breathing. Symptoms can worsen with time, ranging from mild to severe. For many people, PCD causes a decline in quality of life and chronic illness.
There is no cure for PCD. Treatment involves keeping your airways clear and working to fight the risk of infection.
The outlook varies for people with PCD. While it can be severe, many people live active and normal lives with it.
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Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders, Inc. (NORD).Primary ciliary dyskinesia.American Lung Association.Learn about primary ciliary dyskinesia.CHEST Foundation.About primary ciliary dyskinesia (PCD).Primary Ciliary Dyskinesia Foundation.Reproductive health in PCD.MedlinePlus.Primary ciliary dyskinesia.Suzaki I, Hirano K, Arai S, et. al.Primary ciliary dyskinesia with refractory chronic rhinosinusitis.American Journal of Case Reports. 2020;21 (e923270). doi:10.12659/AJCR.923270Children’s Hospital of Philadelphia. Primary ciliary dyskinesia.American Thoracic Society.Primary ciliary dyskinesia (PCD).Shapiro AJ, Zariwala MA, Ferkol T, et al.Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatr Pulmonol. 2016;51(2):115-132. doi:10.1002/ppul.23304Genetic and Rare Diseases Information Center (GARD).Primary ciliary dyskinesia.Orphanet.Primary ciliary dyskinesia.Primary Ciliary Dyskinesia Foundation.PCD diagnosis in 2019: where we are now & where we are going.National Heart, Lung, and Blood Institute.Primary ciliary dyskinesia: what is primary ciliary dyskinesia?American Lung Association.Treating and managing primary ciliary dyskinesia.Primary Ciliary Dyskinesia Foundation.Frequently asked questions.Mirra V, Werner C, Santamaria F.Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies.Front Pediatr. 2017;5:135. doi:10.3389/fped.2017.00135
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Organization for Rare Disorders, Inc. (NORD).Primary ciliary dyskinesia.American Lung Association.Learn about primary ciliary dyskinesia.CHEST Foundation.About primary ciliary dyskinesia (PCD).Primary Ciliary Dyskinesia Foundation.Reproductive health in PCD.MedlinePlus.Primary ciliary dyskinesia.Suzaki I, Hirano K, Arai S, et. al.Primary ciliary dyskinesia with refractory chronic rhinosinusitis.American Journal of Case Reports. 2020;21 (e923270). doi:10.12659/AJCR.923270Children’s Hospital of Philadelphia. Primary ciliary dyskinesia.American Thoracic Society.Primary ciliary dyskinesia (PCD).Shapiro AJ, Zariwala MA, Ferkol T, et al.Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatr Pulmonol. 2016;51(2):115-132. doi:10.1002/ppul.23304Genetic and Rare Diseases Information Center (GARD).Primary ciliary dyskinesia.Orphanet.Primary ciliary dyskinesia.Primary Ciliary Dyskinesia Foundation.PCD diagnosis in 2019: where we are now & where we are going.National Heart, Lung, and Blood Institute.Primary ciliary dyskinesia: what is primary ciliary dyskinesia?American Lung Association.Treating and managing primary ciliary dyskinesia.Primary Ciliary Dyskinesia Foundation.Frequently asked questions.Mirra V, Werner C, Santamaria F.Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies.Front Pediatr. 2017;5:135. doi:10.3389/fped.2017.00135
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Children’s Hospital of Philadelphia. Primary ciliary dyskinesia.
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Orphanet.Primary ciliary dyskinesia.
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American Lung Association.Treating and managing primary ciliary dyskinesia.
Primary Ciliary Dyskinesia Foundation.Frequently asked questions.
Mirra V, Werner C, Santamaria F.Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies.Front Pediatr. 2017;5:135. doi:10.3389/fped.2017.00135
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