Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Feb;53(2):214-21.
doi: 10.1002/mus.24899. Epub 2015 Dec 29.

Respiratory motor function in individuals with centronuclear myopathies

Barbara K Smith  1 , Markus S Renno  2 , Meghan M Green  3 , Terry M Sexton  4 , Lee Ann Lawson  4 , Anatole D Martin  1 , Manuela Corti  4 , Barry J Byrne  4
Affiliations

Respiratory motor function in individuals with centronuclear myopathies

Barbara K Smith et al. Muscle Nerve. 2016 Feb.

Erratum in

Abstract

I NTRODUCTION: 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/day as compared with 24-hour MV users [33.7 (11.9-42.3) vs. 8.4 (6.0-10.9) cm H(2)O, P < 0.05]. Years of MV dependence correlated significantly with MEP (r = -0.715, P < 0.01).

Conclusions: 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.

Keywords: centronuclear myopathy; clinical trial design; mechanical ventilation; myotubular myopathy; respiratory function.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest:

None of the authors have conflicts of interest to report.

Figures

Figure 1
Figure 1
Unassisted tidal volumes of ventilator-dependent participants with CNM. Thoracoabdominal movements were classified as fully synchronous, partially asynchronous, or fully asynchronous (paradoxical) during unassisted ventilation. There was a trend for participants with greater thoracoabdominal synchrony to generate smaller tidal volumes, but this difference was not statistically significant (P = 0.15). Black circles represent participants with XLMTM, while grey squares represent participants with other CNMs.
Figure 2
Figure 2
Maximal respiratory pressures in ventilator-dependent participants with CNM. Participants were grouped according to their routine practice of independent breathing. (A) Maximal inspiratory pressure was significantly higher in participants who routinely breathed without MV for at least 1 hour daily (P<0.05). (B) Maximal expiratory pressure also trended higher among participants with more routine independent breathing, but this difference was not statistically significant (P = 0.10).
Figure 3
Figure 3
Relationship between duration of invasive MV dependence and maximal respiratory pressures. (A) While predicted maximal inspiratory pressure was generally lower after prolonged periods of mechanical ventilation, it was not associated significantly with the duration of ventilator dependence (r = −0.482, P = 0.10). (B) In contrast, duration was significantly associated with predicted maximal expiratory pressure (r = −0.715, P<0.01).
See this image and copyright information in PMC

Comment in

References

    1. Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010;20(4):223–228. - PubMed
    1. Jungbluth H, Wallgren-Pettersson C, Laporte JF, Centronuclear myopathy C. Neuromuscul Disord; 198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies; 31st May – 2nd June 2013; Naarden, The Netherlands. 2013. pp. 1033–1043. - PubMed
    1. Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum Mutat. 1999;14(4):320–325. - PubMed
    1. McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002;12(10):939–946. - PubMed
    1. Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999;134(2):206–214. - PubMed

Publication types

LinkOut - more resources