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Primary ciliary dyskinesia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Primary ciliary dyskinesia

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and difficulties having biological children.

Overview

The signs and symptoms are caused by abnormal cilia (microscopic, finger-like projections on cells) and flagella (tail-like structures that propel sperm). These structures are essential for moving substances within the body and for cell movement.

Symptoms

  • Respiratory issues: Problems removing fluid and particles from airways, often leading to neonatal respiratory distress, chronic nasal congestion, and chronic cough.
  • Infections: Frequent respiratory tract infections beginning in early childhood, which can lead to bronchiectasis (damage to the bronchi).
  • Ear infections: Recurrent otitis media, which can lead to permanent hearing loss.
  • Organ positioning: About 40 percent of individuals have situs inversus totalis (mirror-image reversal of internal organs). Others may have heterotaxy syndrome, involving structural abnormalities or improper positioning of the heart, liver, intestines, or spleen.
  • Fertility problems: Decreased fertility in males due to improper sperm movement and in some females due to abnormal cilia in the fallopian tubes.
  • Hydrocephalus: In rare cases, an accumulation of fluid in the brain.

Causes

Variants in one of over 50 different genes can cause primary ciliary dyskinesia. These genes provide instructions for proteins that form the inner structure of cilia and produce the force needed for them to bend.

  • Variants in the DNAH5 and DNAH11 genes account for approximately 33 percent of cases.
  • Variants in the CCDC40 gene account for approximately 9 percent of cases.
  • These variants disrupt the coordinated movement of cilia, which is necessary for organ function and establishing the left-right axis during embryonic development.

Inheritance

  • Autosomal recessive: Typically, both copies of the gene in each cell must have a variant to cause the disorder.
  • X-linked: In some cases, the altered gene is located on the X chromosome. Males (with one X chromosome) are affected by a single variant, while females (with two X chromosomes) may or may not be affected.
  • Autosomal dominant: In rare cases, one copy of the altered gene is sufficient to cause the disorder, often resulting from new (de novo) variants.

Frequently Asked Questions

Situs inversus occurs in about 40 % of people with PCD, but it can also occur in isolation or with other conditions. Therefore, situs inversus alone does not confirm PCD; a full evaluation—including ciliary function testing and genetic analysis—is needed to establish the diagnosis.
Daily airway clearance can include chest physiotherapy (postural drainage, percussion, or vibration), positive expiratory pressure (PEP) devices, oscillating PEP, or high‑frequency chest wall oscillation. A typical routine might involve 15–20 minutes of physiotherapy in the morning and evening, followed by a short session of PEP or oscillation to help mobilize secretions.
Men with PCD often have reduced sperm motility or immotile sperm. Assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) using sperm retrieved from the epididymis or testis can allow successful fertilization. In some cases, sperm can be extracted directly from the vas deferens or testis and used for ICSI, giving couples a realistic chance of conception.
chronic cough in PCD is usually non‑productive, persists despite typical asthma or allergy treatments, and is often accompanied by daily nasal congestion, recurrent ear infections, and a history of neonatal respiratory distress. If the cough is worse in the morning, worsens with exertion, or is associated with sputum that is thick and yellow, a clinician may order a high‑resolution CT of the chest, a nasal nitric oxide test, or a ciliary biopsy to confirm PCD.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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