What are the Symptoms of Primary Ciliary Dyskinesia?

Symptoms typically include:

• Respiratory distress as a newborn
• Chronic cough
• Pneumonia, bronchitis and other recurring infections
• Excess mucus
• Difficulty clearing mucus
• Middle ear infections
• Hearing loss
• Severe sinus infections
• Recurring cold symptoms, such as coughing and sneezing
• Lack of response to common antibiotics like penicillin when you have infections

How is Primary Ciliary Dyskinesia Diagnosed?

• PCD can be difficult to diagnose. Doctors may mistake PCD for "atypical" asthma or cystic fibrosis.
• Doctors piece clues together based on the patient's history and symptoms.
• Another clue in some patients is if they have a left-right mirroring of the heart  or abdominal organs. This is Kartagener Syndrome and is associated with PCD.
• A lung biopsy is the final test for confirming a diagnosis.

How is Primary Ciliary Dyskinesia Treated?

• There is currently no cure for PCD, but when PCD is diagnosed early enough, patients receiving proper treatment and monitoring can expect to live a full life.
• Treatment focuses on preventing the progression of PCD and maintaining current lung function.
• Doctors must monitor patients with PCD closely to prevent bronchiecstasis.
• People with PCD must keep their airways clear of mucus. Therapists use daily airway clearance therapy for the lungs; routine washing and suctioning of sinus cavities and ear canals keep upper airways clear.
• People with CPD may be prescribed antibiotics regularly because bacteria live and thrive in retained mucus.
• Other medications prescribed may include steroids, bronchodilators, and mucolytics (mucus thinners).