Primary Ciliary Dyskinesia

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

inherited genetic defect in cilia structure; impairment of cilia affecting mainly airways, ears, reproductive organs

Common symptoms

Variable onset (neonatal to adulthood) of respiratory symptoms (coughingchokingrespiratory distress)hearing lossand reduced sperm motility. Recurrent sinusmiddle earand lung infections. 50% have situs inversus.

When to suspect

How to test

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    No pharmacologic treatments. Daily chest physiotherapy for airway clearance highly recommended. Low threshold for antibiotics in respiratory infections.

Primary care

  • Recommendation 1

    2-4 pulmonology visits/year for lung infection surveillance screening, sputum culture, and spirometry. Regular otolaryngology care. Complete chest x-ray every 2-4 years. Encourage vaccination, especially influenza, pneumococcal, and RSV. Adult patients desiring children may need referral to a fertility specialist. Support group

  • Recommendation 2

    PCD Foundation

Further support

  • Recommendation 1

    The Primacy Ciliary Dyskenisa Foundation maintains a registry of medical centers with trained specialists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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