Respiratory motor function in individuals with centronuclear myopathies

Abstract

Introduction Individuals with X-linked myotubular myopathy (XLMTM) and other centronuclear myopathies (CNMs) frequently have profound respiratory insufficiency that requires support early in life. Still, few quantitative data exist to characterize respiratory motor function in CNM. Methods We evaluated the reliance upon mechanical ventilation (MV), ventilatory kinematics, unassisted tidal volumes, and maximal respiratory pressures in 14 individuals with CNMs, including 10 boys with XLMTM. Results Thirteen participants required full-time, invasive MV. Maximal inspiratory pressures were higher in subjects who breathed unsupported at least 1 hour per day than 24-hour MV users [33.7 (11.9–42.3) vs 8.4 (6.0–10.9) cm H2O, P<0.05]. Years of MV dependence significantly correlated with MEP (r=−0.715, P<0.01). Discussion Respiratory function in CNMs may be related to deconditioning from prolonged MV and/or differences in residual respiratory muscle strength. Results from this study may assist in evaluating severe respiratory insufficiency in neuromuscular clinical care and research.

Continuous noninvasive ventilatory support as an alternative to invasive TMV

“…The study sample is a cross-sectional group who attended the largest US-based patient conference for centronuclear myopathy (CNM). 1 We are not the local clinical providers for the participants. The data reflect actual management of CNM in the United States from a diverse geographic, socioeconomic, and demographic sample.…”

Hereditary myopathies with early respiratory insufficiency in adults

“…Likewise, hereditary myopathies manifesting with ERI have a broad spectrum of myopathological and molecular correlates, posing major diagnostic challenges. Although compromised respiratory function is a well‐recognized feature of certain hereditary myopathies of infancy and childhood [e.g., centronuclear myopathy (CNM) or multi‐minicore disease (MmD)], it is underestimated in adults, leading to a delay in diagnosis and treatment. Hence, there is a compelling need to better characterize the hereditary myopathies demonstrating ERI in adulthood to improve diagnosis and provide better patient care.…”