Respiratory care in myotubular myopathy

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 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.

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

“… 186 At present, the clinical treatment is mainly based on supportive treatment, among which respiratory management is the most common, such as clearing respiratory secretions, providing ventilation support, and preventing respiratory infections. 195 Other therapies are now under development, several of which have entered the clinical research stage, including tamoxifen drug treatment and adeno‐associated virus (AAV)‐mediated gene replacement therapy. 196 , 197 , 198 It is hoped that these therapies will bring hope to patients.…”

“…In addition, XLMTM patients carrying SPEG mutation have a higher probability of dilated cardiomyopathy due to the interaction between MTM1 and SPEG as well as the wide distribution of SPEG in cardiomyocytes 186 . At present, the clinical treatment is mainly based on supportive treatment, among which respiratory management is the most common, such as clearing respiratory secretions, providing ventilation support, and preventing respiratory infections 195 . Other therapies are now under development, several of which have entered the clinical research stage, including tamoxifen drug treatment and adeno‐associated virus (AAV)‐mediated gene replacement therapy 196–198 .…”