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