Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

ABSTRACT:

Objective

To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and signs, as well as associated disease burden.

Methods

We performed a cross-sectional online questionnaire study among XL-MTM carriers. Participants were recruited from patient associations, medical centers, and registries in the United Kingdom, Germany, and the Netherlands. We used a custom-made questionnaire, the Checklist Individual Strength (CIS), the Frenchay Activities Index (FAI), the Short Form 12 (SF-12) health survey, and the McGill Pain Questionnaire. Carriers were classified as manifesting or nonmanifesting on the basis of self-reported ambulation and muscle weakness.

Results

SUBMITTER: Reumers SFI 

PROVIDER: S-EPMC8356379 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature