Related Experiment Video

Updated: Jan 18, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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Primary ciliary dyskinesia: clinical manifestations and current diagnostic approaches

Robert J Reklow1, Madison J Weir, Sharon D Dell

  • 1Division of Respiratory Medicine, Department of Pediatrics B.C. Children's Hospital Research Institute, Canada.

Current Opinion in Pulmonary Medicine
|September 8, 2025
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a genetic disorder often diagnosed late due to varied symptoms and limited tests. Expert networks are crucial for developing better diagnostic tools and improving patient outcomes.

Area of Science:

  • Genetics
  • Pulmonology
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic ciliopathy impacting multiple organs.
  • Clinical manifestations of PCD vary widely, leading to delayed diagnosis and significant health complications.
  • PCD affects quality of life and requires specialized diagnostic approaches.

Purpose of the Study:

  • To review the clinical symptoms of primary ciliary dyskinesia (PCD) present from birth.
  • To summarize current diagnostic methods for PCD and discuss innovative adjunctive tests.
  • To emphasize the role of PCD expert networks in standardizing guidelines and developing diagnostic tools.

Main Methods:

  • Review of clinical symptoms and diagnostic approaches for PCD.
  • Evaluation of strengths and limitations of current and emerging diagnostic tests.
  • Discussion of the importance of collaborative networks for PCD research and development.

Main Results:

  • PCD is globally underdiagnosed due to low awareness and diagnostic limitations.
  • Over 50 disease-causing genes are identified, with ongoing discovery of new genes.
  • Current diagnostic tests are resource-intensive, require specialized training, and may miss up to 30% of cases.

Conclusions:

  • PCD diagnosis is challenging due to variable clinical presentations and limitations in current tests.
  • Improved diagnostic options are needed, necessitating further research and development.
  • Collaborative efforts through expert networks are essential for creating enhanced diagnostic tools and improving patient outcomes.
Abstract

Keywords:
ciliopathydiagnosisgenetic testingprimary ciliary dyskinesia

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