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 SF-12 Health survey and the McGill Pain Questionnaire (MPQ). Carriers were classified as manifesting or non-manifesting, based on 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 sub-scale (p < 0.001) and least severe pain sub-scale (p = 0.005) than non-manifesting 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.
Background: High visit-to-visit blood pressure variability (BPV) has been associated with cognitive decline and cerebral small vessel disease (cSVD), in particular cerebrovascular lesions. Whether day-today BPV also relates to cSVD has not been investigated. Objective: To investigate the cross-sectional association between day-today BPV and total cSVD MRI burden in older memory clinic patients. Methods: We included outpatients referred to our memory clinic, who underwent cerebral MRI as part of their diagnostic assessment. We determined the validated total cSVD score (ranging from 0-4) by combining four markers of cSVD that were visually rated. Home blood pressure (BP) measurements were performed for one week, twice a day, according to international guidelines. BPV was defined as the within-subject coefficient of variation (CV; standard deviation/mean BP*100). We used multivariable ordinal logistic regression analyses adjusted for age, sex, smoking, diabetes, antihypertensive medication, history of cardiovascular disease, and mean BP. Results: For 82 patients (aged 71.2 ± 7.9 years), mean home BP was 140/79 ± 15/9 mmHg. Dementia and mild cognitive impairment were diagnosed in 46% and 34%, respectively. 78% had one or more markers of cSVD. Systolic CV was associated with cSVD burden (adjusted odds ratio per point increase in CV = 1.29, 95% confidence interval = 1.04-1.60, p = 0.022). There were no differences in diastolic CV and mean BP between the cSVD groups. When we differentiated between morning and evening BP, only evening BPV remained significantly associated with total cSVD burden. Conclusion: Day-today systolic BPV is associated with cSVD burden in memory clinic patients. Future research should indicate whether lowering BPV should be included in BP management in older people with memory complaints.
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