RT Journal Article
SR Electronic
T1 Respiratory Care in Myotubular Myopathy
JF ERJ Open Research
JO erjor
FD European Respiratory Society
SP 00641-2020
DO 10.1183/23120541.00641-2020
A1 Hui-leng Tan
A1 Elaine Chan
YR 2021
UL http://openres.ersjournals.com/content/early/2021/01/14/23120541.00641-2020.abstract
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 recently. In this review, we discuss the common respiratory issues using 4 illustrative real life cases, and summarise recent translational research which offers hope to many patients and their families.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Conflict of interest: Dr. Tan has nothing to disclose.