Diaphragm dysfunction: how to diagnose and how to treat?

The diaphragm, crucial for respiratory function, is susceptible to dysfunction due to various pathologies that can affect the nervous system, neuromuscular junction or the muscle itself. Diaphragmatic dysfunction presents with symptoms ranging from exertional dyspnoea to respiratory failure, significantly impacting patients' quality of life. Diagnosis involves clinical evaluation complemented by imaging and pulmonary function tests. Chest radiography, fluoroscopy, and ultrasonography are pivotal in assessing diaphragmatic movement and excursion, offering varying sensitivities and specificities based on the type and severity of dysfunction. Ultrasonography emerges as a noninvasive bedside tool with high sensitivity and specificity, measuring diaphragm thickness, thickening fraction, and excursion, and enabling monitoring of disease progression and response to treatment over time. Treatment strategies depend on the underlying aetiology and severity, ranging from conservative management to interventions such as surgical plication or diaphragmatic pacing. Ventilatory support, particularly noninvasive ventilation, plays a pivotal role in treatment, enhancing lung function and patient outcomes across unilateral and bilateral dysfunction. Despite advances in diagnostic techniques, awareness and systematic evaluation of diaphragmatic function remain inconsistent across clinical settings. This review consolidates the current understanding of diaphragmatic dysfunction, highlighting diagnostic modalities and treatment options to facilitate early recognition and management of this entity.