PT - JOURNAL ARTICLE AU - Tan, Hui-leng AU - Chan, Elaine TI - Respiratory care in myotubular myopathy AID - 10.1183/23120541.00641-2020 DP - 2021 Jan 01 TA - ERJ Open Research PG - 00641-2020 VI - 7 IP - 1 4099 - http://openres.ersjournals.com/content/7/1/00641-2020.short 4100 - http://openres.ersjournals.com/content/7/1/00641-2020.full SO - erjor2021 Jan 01; 7 AB - X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the MTM1 gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase. Affected individuals typically require intensive medical intervention to survive, though there are some milder phenotypes. To date, respiratory management has been primarily supportive, optimising clearance of airway secretions, providing ventilatory support and prevention/early intervention of respiratory infections. Encouragingly, there has been significant progress in the development of novel therapeutic strategies such as gene therapy, enzyme replacement therapy and drugs that modulate downstream pathways. In this review, we discuss the common respiratory issues using four illustrative real-life cases, and summarise recent translational research, which offers hope to many patients and their families.A proactive approach is the cornerstone to respiratory care in MTM patients: optimising clearance of airway secretions, preventing/early treatment of respiratory infections and providing ventilatory support to those who need it https://bit.ly/2LYFzW2