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

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


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.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mortality
  • Myopathies, Structural, Congenital / mortality*
  • Premature Birth / epidemiology*
  • Respiration, Artificial / statistics & numerical data*
  • Retrospective Studies
  • Surgical Procedures, Operative / statistics & numerical data*
  • Young Adult