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
Multicenter Study
. 2018 Apr;57(4):550-560.
doi: 10.1002/mus.26018. Epub 2017 Dec 22.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Alan H Beggs  1 , Barry J Byrne  2 , Sabine De Chastonay  3 , Tmirah Haselkorn  4 , Imelda Hughes  5 , Emma S James  6 , Nancy L Kuntz  7 , Jennifer Simon  8 , Lindsay C Swanson  1 , Michele L Yang  9 , Zi-Fan Yu  8 , Sabrina W Yum  10 , Suyash Prasad  6
Affiliations
Multicenter Study

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Alan H Beggs et al. Muscle Nerve. 2018 Apr.

Abstract

Introduction: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.

Methods: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.

Results: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital.

Discussion: XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550-560, 2018.

Keywords: X-linked myotubular myopathy; centronuclear myopathy; congenital myopathy; disease burden; natural history; retrospective chart review.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Patient disposition diagram.
Figure 2
Figure 2
Hospital and Surgical Burden: Annual Percentage Time in the Hospital per Patient (A) and Annual Number of Surgeries per Patient (B). “All Patients” = all study participants. “Hospitalized patients only” = patients with recorded hospitalization start and end dates. “Surgery patients” = patients with surgical data and known dates for their surgical procedures.
See this image and copyright information in PMC

Comment in

References

    1. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, et al. A gene mutated in X‐linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175–182. - PubMed
    1. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X‐linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005;64:555–564. - PubMed
    1. Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, et al. Expanding the MTM1 mutational spectrum: novel variants including the first multi‐exonic duplication and development of a locus‐specific database. Eur J Hum Genet 2013;21:540–549. - PMC - PubMed
    1. Blondeau F, Laporte J, Bodin S, Superti‐Furga G, Payrastre B, Mandel JL. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3‐kinase and phosphatidylinositol 3‐phosphate pathway. Hum Mol Genet 2000;9:2223–2229. - PubMed
    1. Laporte J, Blondeau F, Buj‐Bello A, Mandel JL. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet 2001;17:221–228. - PubMed

Publication types