Abstract
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.
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