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Abstract：
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.
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.
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).
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.
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.
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).
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.
摘要：
为了表征X连锁肌管肌病（XL-MTM）携带者的临床特征，包括患病率，遗传特征,临床症状,和标志，以及相关的疾病负担。
我们在XL-MTM携带者中进行了一项横断面在线问卷调查研究。参与者从患者协会招募，医疗中心,和英国的登记处，德国,和荷兰。我们使用了定制的问卷，个人力量检查表(CIS)，法国活动指数(FAI)，简短表格12(SF-12)健康调查，还有麦吉尔疼痛问卷.根据自我报告的步行和肌肉无力，将携带者分为有表现或无表现。
本研究人群（n=76）中出现携带者的患病率为51％，细分为轻度(独立行走，39%），中度(辅助步行，9%)，和严重(依赖轮椅，3%)表型。除了肌肉无力,表现携带者经常报告疲劳(70%)和运动不耐受(49%)。表现携带者在总体CIS上得分较高(p=0.001)，疲劳分量表(p<0.001)，与未表现出携带者相比，疼痛分量表（p=0.005）最少。他们在FAI（p=0.005）和SF-12健康调查的身体成分（p<0.001）上得分较低。
显示XL-MTM运营商的患病率可能高于目前的假设，大多数具有轻度表型和各种各样的症状。表现携带者尤其受到疲劳的影响，日常活动的局限性，疼痛,降低了生活质量。我们的发现应该提高认识，并为医疗保健提供者和未来的临床试验提供有用的信息。
我们在XL-MTM携带者中进行了一项横断面在线问卷调查研究。参与者从患者协会招募，医疗中心,和英国的登记处，德国,和荷兰。我们使用了定制的问卷，个人力量检查表(CIS)，法国活动指数(FAI)，简短表格12(SF-12)健康调查，还有麦吉尔疼痛问卷.根据自我报告的步行和肌肉无力，将携带者分为有表现或无表现。
本研究人群（n=76）中出现携带者的患病率为51％，细分为轻度(独立行走，39%），中度(辅助步行，9%)，和严重(依赖轮椅，3%)表型。除了肌肉无力,表现携带者经常报告疲劳(70%)和运动不耐受(49%)。表现携带者在总体CIS上得分较高(p=0.001)，疲劳分量表(p<0.001)，与未表现出携带者相比，疼痛分量表（p=0.005）最少。他们在FAI（p=0.005）和SF-12健康调查的身体成分（p<0.001）上得分较低。
显示XL-MTM运营商的患病率可能高于目前的假设，大多数具有轻度表型和各种各样的症状。表现携带者尤其受到疲劳的影响，日常活动的局限性，疼痛,降低了生活质量。我们的发现应该提高认识，并为医疗保健提供者和未来的临床试验提供有用的信息。
