X‐linked myotubular myopathy and pulmonary blebs: Not just a muscle disorder

Graham, Robert J.; Ward, Erin

doi:10.1002/mus.26697

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…Medical complications which appear unrelated to the primary myopathy have been described in long term survivors suggesting expression of the defective protein is not limited to myocytes (16,17). Examples include: (i) peliosis hepatis, a rare vascular lesion characterized by the presence of multiple blood-filled, cystic cavities within the liver; (ii) two patients with MTM, aged 15years and 21 years, both with chronic respiratory failure requiring tracheostomy ventilation, were recently reported to have pulmonary blebs which ruptured and required drainage (18). Interestingly, Patient 1 presented with a pneumothorax on his most recent admission, though no obvious blebs were seen on the CXR.…”

Section: Case Discussionmentioning

confidence: 99%

Respiratory care in myotubular myopathy

Tan

Chan

2021

ERJ Open Res

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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.

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Section: Case Discussionmentioning

confidence: 99%