{Reference Type}: Journal Article
{Title}: A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
{Author}: 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;
{Journal}: Muscle Nerve
{Volume}: 57
{Issue}: 4
{Year}: 04 2018
{Factor}: 3.852
{DOI}: 10.1002/mus.26018
{Abstract}: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.<BR>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.<BR>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.<BR>XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550-560, 2018.