Primary Ciliary Dyskinesia: A Review Study of Pathophysiology and Interventions for Airway Clearance and Rehabilitation Melia Biglin*, Mark Elkins, Margaret Rosenfeld, Ercy Mara Cipulo Ramos, Jared M. Dickinson, PhD Project Mentor(s): Ana Paula Freire, PT, MSc, PhD Background: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by abnormal motile cilia function, leading to impaired mucociliary clearance, chronic infection, and progressive lung damage. Management of this disease can be facilitated by focusing on rehabilitation strategies, including airway clearance techniques, conditioning of respiratory muscles, and exercise. Objective: This review provides an evidence-based synthesis of physiotherapeutic assessment and intervention strategies for individuals with PCD, integrating current knowledge from pathophysiology to rehabilitation outcomes. Methods: Fifteen observational and interventional studies were included in the review, with pooled quantitative analyses performed when appropriate. Standardized mean differences (SMD) or mean differences (MD) with 95% confidence intervals (CI) were utilized in this analysis. Results: Compared to healthy controls, individuals with PCD demonstrate significantly reduced exercise capacity (SMD −0.94; 95% CI −1.19 to −0.69), inspiratory (MD −12 cmH₂O; 95% CI −19 to −6) and expiratory muscle strength (MD −12 cmH₂O; 95% CI −19 to −6), and moderate reductions in peripheral (SMD −0.44; 95% CI −0.82 to −0.06) and handgrip strength (SMD −0.64; 95% CI −1.07 to −0.21). The greatest functional improvements were derived from exercise-based and multimodal interventions that combined airway clearance and physical training. Conclusion: Individuals with PCD may experience benefits from rehabilitation interventions. These interventions include airway clearance, respiratory muscle training, and structured exercise programs, all of which are safe to implement in a population with PCD. Future research should include multicenter and tele-rehabilitation studies to strengthen evidence and expand rehabilitation access in low-resource settings. Presentation Type: Oral Presentation (May 20, 9:30am–5:00pm) Keywords: Physical Therapy Modalities; Primary Ciliary Dyskinesia; Breathing Exercises; Rehabilitation SOURCE Form ID: 11
80
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