Non-invasive Positive Pressure Ventilation in a Patient with the Severe Form of X-linked Myotubular Myopathy
Submission Deadline: May 20, 2019 (Open) Submit Now
Kenji Inoue, MD
Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan
Email: [email protected]
Research Interests: Developmental disorders, Neuromuscular, and Epilepsy
About this topic
The severity of X-linked myotubular myopathy (XLMTM) ranges from mild to severe, depending on the level of ventilatory support required. Patients with the severe form of XLMTM usually die within the first year of life due to respiratory failure. Most survivors need tracheostomies, and there have only been a few reports about the use of non-invasive positive pressure ventilation (NPPV) in patients with the severe form of XLMTM because of the severity of the associated respiratory failure. Therefore, the precise NPPV settings employed in patients with the severe form of XLMTM were not described in any of the previous reports, while in patients with spinal muscular atrophy type I, the key to success of NPPV was reported to be the use of high-span PIP. What setting of NPPV is appropriate in patients with the severe form of XLMTM? Can the high-span PIP be employed to patients with the severe form of XLMTM? In this special issue, we aim to the introduction of a research or a case report in respiratory management with NPPV in patients with severe form of XLMTM, as well as in patients with other severe form of neuromuscular disorders.