Hypoventilation syndrome in neuromuscular disorders

Hypoventilation syndrome in neuromuscular disorders (NMDs) is primarily due to respiratory muscle weakness and results in increased morbidity and mortality. This article highlights current aspects of neuromuscular hypoventilation syndrome, including pathophysiology, clinical symptoms, assessment, respiratory involvement in various NMD, and causal and symptomatic treatments with an emphasis on recent research and advances.

New therapeutic agents have been developed within the last years, proving a positive effect on respiratory system. Symptomatic therapies, including mechanical ventilation and cough assistance approaches, are important in NMD and respiratory muscle training may have benefit in strengthening respiratory muscles and should be offered patients with respiratory muscle weakness the same way as physiotherapy. Correct respiratory assessments and their correct interpretation are hallmarks for early diagnosis of hypoventilation syndrome and treatment.