Understanding Primary Ciliary Dyskinesia

Symptoms, Diagnosis, and Management

What is Primary Ciliary Dyskinesia? ‍

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Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the functionality of the body's cilia. These tiny hair-like structures are responsible for clearing mucus and fluids from airways, a process known as ‘mucociliary clearance.’ Cilia line the upper and lower respiratory tract including nasal passages, sinuses and lung, and eustachian tubes of the ear, the reproductive organs, and the ventricles of the brain. When cilia do not work properly, the body is unable to expel foreign material and clear mucus, leading to serious health complications. Common symptoms include chronic infections, hearing loss and infertility. Please see the full list of symptoms below. PCD diagnoses are often delayed and can even be misdiagnosed; for more information please see the diagnosis overview.

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Symptoms can include chronic infections of lungs, sinuses and ears; hearing loss is also common. Adult males with PCD may experience infertility and adult females with PCD may experience sub-fertility. For more information please see PCD Symptoms below. 

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What are the symptoms of PCD? 

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• Chronic ear infections or chronic otitis media (long-term infection or inflammation of the middle ear) 
• Hearing loss
• Chronic wet cough (also known as a productive cough - meaning the cough produces mucus of phlegm) 
• Recurrent respiratory infections or chronic respiratory disease 
• Pneumonia
• Lung damage
• Nasal congestion or inflammation
• Abnormal positioning of organs
• Situs inversus (reversed position of internal organs)
• Kartagener syndrome (subset of PCD - cilia movement is impaired and situs inversus is common)
• Breathing difficulties as a newborn
• Fertility (or subfertility) issues 
• Excessive sweating

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How is Primary Ciliary Dyskinesia Diagnosed?  

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Diagnosis of PCD is crucial for patients to properly manage and treat the condition and yet the diagnosis can be significantly delayed with the diagnosis not even considered for many years.  

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There are only two approved options for diagnosing PCD: 

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• Biopsy of the ciliated tissue 
• Genetic testing for known variants that cause PCD 

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Genetic testing or a tissue biopsy requires the presence of one or a combination of the common symptoms of PCD. If you or a loved one is experiencing a combination of any of the symptoms above, Probably Genetic offers no-cost genetic testing and genetic counseling to patients with confirmed eligibility. 

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To be eligible, patients must be experiencing PCD symptoms and not have received a genetic diagnosis. Probably Genetic is dedicated to offering as many tests as possible and commits to re-reviewing previously waitlisted applications as our testing capacity grows. 

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Genetic Testing for PCD

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If you suspect Primary Ciliary Dyskinesia and would like to apply for the free genetic testing program, please see the following instructions:

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1. Begin the online symptom assessment. 
2. Describe the symptoms you or a loved one is experiencing. 
3. Complete the rest of your profile (including address where we will send the sample collection kit, if eligibility is confirmed.) 
4. See if you qualify - you’ll be notified via email. 

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‍What are the common misdiagnoses for PCD? 

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A genetic test of PCD and subsequent diagnosis of PCD may be delayed due to common misdiagnoses. A misdiagnosis means that the PCD symptoms a patient is suffering are explained or diagnosed as another condition entirely. Common misdiagnoses include: 

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• Asthma
• Allergies
• Immunodeficiency
• Cystic fibrosis
• Chronic sinusitis
• Bronchitis
• Bronchiectasis

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How is PCD treated? 

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Currently, there is no single, approved therapeutic intervention for PCD. However, as the diagnosed PCD population grows and a registry of patient data is developed, PCD clinical trials will be conducted so that treatment options become available. Patients may find clinical trials to be an option. Additionally, there are other critical health interventions physicians will recommend in order to maintain airway health and treat lung and upper airway conditions.  

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‍How do patients manage PCD? 

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The best management of PCD requires patients to be active in their own care and also work with their healthcare team and support system to maintain a healthy lifestyle. Diagnosis can be a critical part of better managing care, and that is why we offer a patient-focused, no-cost genetic testing program. Once diagnosed, there are resources and support can be helpful in managing PCD. 

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If you are diagnosed with PCD, Probably Genetic offers a patient resource program at no cost to you. Just confirm the details of your diagnosis and experience with the disease to access. 

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Diagnosed patients can follow these instructions: 

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1. Begin the online disease assessment here.
2. Share your confirmed diagnosis right away and any disease experience relevant. 
3. Complete the rest of your profile.
4. Get connected with helpful, no-cost resources such as patient communities or treatment options.

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Building a support network is also crucial for managing PCD. The PCD Foundation is an excellent resource for connecting with other patients and fostering a sense of community. Visit the PCD Foundation to learn more.

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By leveraging these resources, patients and families can gain better insights into managing PCD and connecting with others who understand their experiences. Whether you're seeking information, community support, or considering genetic testing, these resources can help you navigate the journey with PCD.

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Probably Genetic’s No-Cost PCD Patient Program 

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Already Diagnosed?

Get connected with free resources:

1. Get connected with free resources.
2. Describe your disease experience.
3. Complete the rest of your profile.
4. Get connected with helpful, no-cost resources such as patient communities or treatment options.

Suspect Primary Ciliary Dyskinesia?

Apply for free genetic testing: 

1. Describe the symptoms you or a loved one is experiencing.
2. Complete the rest of your profile.
3. See if you qualify - you’ll be notified via email.
   

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