A natural history study of X-linked myotubular myopathy.

ABSTRACT:

Objective

To define the natural history of X-linked myotubular myopathy (MTM).

Methods

We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33).

Results

We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean

SUBMITTER: Amburgey K 

PROVIDER: S-EPMC5649758 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature