Respiratory care in myotubular myopathy
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 phe...
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European Respiratory Society
2021-03-01
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doaj-71256dcad27b4994a8fe91e09e8111142021-04-06T10:24:10ZengEuropean Respiratory SocietyERJ Open Research2312-05412021-03-017110.1183/23120541.00641-202000641-2020Respiratory care in myotubular myopathyHui-leng Tan0Elaine Chan1 Royal Brompton and Harefield NHS Foundation Trust, London, UK Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK 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.http://openres.ersjournals.com/content/7/1/00641-2020.full |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hui-leng Tan Elaine Chan |
spellingShingle |
Hui-leng Tan Elaine Chan Respiratory care in myotubular myopathy ERJ Open Research |
author_facet |
Hui-leng Tan Elaine Chan |
author_sort |
Hui-leng Tan |
title |
Respiratory care in myotubular myopathy |
title_short |
Respiratory care in myotubular myopathy |
title_full |
Respiratory care in myotubular myopathy |
title_fullStr |
Respiratory care in myotubular myopathy |
title_full_unstemmed |
Respiratory care in myotubular myopathy |
title_sort |
respiratory care in myotubular myopathy |
publisher |
European Respiratory Society |
series |
ERJ Open Research |
issn |
2312-0541 |
publishDate |
2021-03-01 |
description |
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. |
url |
http://openres.ersjournals.com/content/7/1/00641-2020.full |
work_keys_str_mv |
AT huilengtan respiratorycareinmyotubularmyopathy AT elainechan respiratorycareinmyotubularmyopathy |
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