1. Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.
- Author
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Reumers SFI, Braun F, Spillane JE, Böhm J, Pennings M, Schouten M, van der Kooi AJ, Foley AR, Bönnemann CG, Kamsteeg EJ, Erasmus CE, Schara-Schmidt U, Jungbluth H, and Voermans NC
- Subjects
- Adult, Aged, Cost of Illness, Cross-Sectional Studies, Exercise, Fatigue etiology, Female, Germany epidemiology, Humans, Male, Middle Aged, Muscle Weakness etiology, Myopathies, Structural, Congenital epidemiology, Netherlands epidemiology, Pain Measurement, Prevalence, Protein Tyrosine Phosphatases, Non-Receptor genetics, Registries, Surveys and Questionnaires, United Kingdom epidemiology, Heterozygote, Myopathies, Structural, Congenital genetics
- 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: The prevalence of manifesting carriers in this study population (n = 76) was 51%, subdivided into mild (independent ambulation, 39%), moderate (assisted ambulation, 9%), and severe (wheelchair dependent, 3%) phenotypes. In addition to muscle weakness, manifesting carriers frequently reported fatigue (70%) and exercise intolerance (49%). Manifesting carriers scored higher on the overall CIS ( p = 0.001), the fatigue subscale ( p < 0.001), and least severe pain subscale ( p = 0.005) than nonmanifesting carriers. They scored lower on the FAI ( p = 0.005) and the physical component of the SF-12 health survey ( p < 0.001)., Conclusions: The prevalence of manifesting XL-MTM carriers may be higher than currently assumed, most having a mild phenotype and a wide variety of symptoms. Manifesting carriers are particularly affected by fatigue, limitations of daily activities, pain, and reduced quality of life. Our findings should increase awareness and provide useful information for health care providers and future clinical trials., (© 2021 American Academy of Neurology.) more...
- Published
- 2021
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