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

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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Beggs AH,Byrne BJ,De Chastonay S,Haselkorn T,Hughes I,James ES,Kuntz NL,Simon J,Swanson LC,Yang ML,Yu ZF,Yum SW,Prasad S

doi

10.1002/mus.26018

subject

Has Abstract

pub_date

2018-04-01 00:00:00

pages

550-560

issue

4

eissn

0148-639X

issn

1097-4598

journal_volume

57

pub_type

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