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

作者：Beggs Alan H.^*; Byrne Barry J.; De Chastonay Sabine; Haselkorn Tmirah; Hughes Imelda; James Emma S.; Kuntz Nancy L.; Simon Jennifer; Swanson Lindsay C.; Yang Michele L.; Yu Zi-Fan; Yum Sabrina W.; Prasad Suyash

来源：Muscle & Nerve, 2018, 57(4): 550-560.

DOI：10.1002/mus.26018

• centronuclear myopathy
• congenital myopathy
• disease burden
• natural history
• retrospective chart review
• X-linked myotubular myopathy

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 Nerve57: 550-560, 2018

• 出版日期2018-4