A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States.

ABSTRACT:

Background

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and wheelchair use in approximately 80% of patients. The direct and indirect financial impact of extensive supportive care, as reported by caregivers of individuals with XLMTM, and the health-related quality of life (HRQoL) of caregivers has not been previously described. Here, we use a survey co-designed by patient advocates to provide objective information on the physical and financial challenges of caregiving for individuals with XLMTM.

Methods

A real-world web-based survey was conducted in the United States between November 19, 2019, and January 23, 2020. The

SUBMITTER: Duong T 

PROVIDER: S-EPMC12067675 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature