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Muscle Nerve. 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.

Author information

1
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue Boston, Massachusetts, USA.
2
Children's Research Institute, University of Florida, Gainesville, Gainesville, Florida, USA.
3
Cure CMD, Torrance, California, USA.
4
EpiMetrix, Inc., Los Altos, California, USA.
5
Royal Manchester Children's Hospital, Manchester, United Kingdom.
6
Audentes Therapeutics, San Francisco, California, USA.
7
Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
8
Statistics Collaborative, Washington, DC.
9
Children's Hospital Colorado, Aurora, Colorado, USA.
10
Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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

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