Physiotherapy in Primary Ciliary Dyskinesia-What Is the Evidence?: A Narrative Review and Personal Experience.

Primary ciliary dyskinesia (PCD) is a rare, hereditary disorder characterized by impaired motile ciliary function, resulting in abnormal mucociliary clearance (MCC). This leads to persistent infection and inflammation, progressive airway damage, and bronchiectasis. Physiotherapy, particularly airway clearance therapy (ACT), is considered a cornerstone of PCD management to compensate for the mechanical MCC deficit, aiming to reduce infection risk, prevent disease progression, and improve quality of life (QOL). However, evidence supporting specific physiotherapy regimens in PCD remains limited. Current practice varies widely across centers and countries, with no standardized guidelines. Common ACT methods include positive expiratory pressure (PEP) with or without oscillation, autogenic and postural drainage, active cycle of breathing technique (ACBT), intrapulmonary percussive ventilation (IPV), and high-frequency chest wall oscillation (HFCWO). Comparative studies show no clear superiority among techniques. Evidence for mucolytic therapy, such as hypertonic saline or rhDNAse, is weak or controversial. Scarce data demonstrate potential benefits of exercise interventions in improving ventilatory capacity and QOL. Age-specific considerations are crucial: ACT should be started early, be adapted to developmental stages, and be combined with strategies to enhance adherence. Despite physiotherapy being standard care, randomized controlled trials are challenging due to ethical constraints, potentially reducing a therapy that is already believed to be helpful. Future priorities include developing international guidelines and conducting high-quality studies to optimize treatment strategies. In conclusion, physiotherapy plays a crucial role in PCD management, but current recommendations rely largely on expert opinion and extrapolation from related conditions like cystic fibrosis (CF) and non-CF bronchiectasis (BRECT), underscoring the need for robust evidence.