PDF(Pubmed)
Abstract：
UNASSIGNED: Becker muscular dystrophy (BMD) is a dystrophinopathy due to in-frame mutations in the dystrophin gene (DMD) which determines a reduction of dystrophin at muscle level. BMD has a wide spectrum of clinical variability with different degrees of disability. Studies of natural history are needed also in view of up-coming clinical trials.
UNASSIGNED: From an initial cohort of 32 BMD adult subjects, we present a detailed phenotypic characterization of 28 patients, then providing a description of their clinical natural history over the course of 12 months for 18 and 24 months for 13 of them.
UNASSIGNED: Each patient has been genetically characterized. Baseline, and 1-year and 2 years assessments included North Star Ambulatory Assessment (NSAA), timed function tests (time to climb and descend four stairs), 6-minute walk test (6MWT), Walton and Gardner-Medwin Scale and Medical Research Council (MRC) scale. Muscle magnetic resonance imaging (MRI) was acquired at baseline and in a subgroup of 9 patients after 24 months. Data on cardiac function (electrocardiogram, echocardiogram, and cardiac MRI) were also collected.
UNASSIGNED: Among the clinical heterogeneity, a more severe involvement is often observed in patients with 45-X del, with a disease progression over two years. The 6MWT appears sensitive to detect modification from baseline during follow up while no variation was observed by MRC testing. Muscle MRI of the lower limbs correlates with clinical parameters.Our study further highlights how the phenotypic variability of BMD adult patients makes it difficult to describe an uniform course and substantiates the need to identify predictive parameters and biomarkers to stratify patients.
UNASSIGNED: From an initial cohort of 32 BMD adult subjects, we present a detailed phenotypic characterization of 28 patients, then providing a description of their clinical natural history over the course of 12 months for 18 and 24 months for 13 of them.
UNASSIGNED: Each patient has been genetically characterized. Baseline, and 1-year and 2 years assessments included North Star Ambulatory Assessment (NSAA), timed function tests (time to climb and descend four stairs), 6-minute walk test (6MWT), Walton and Gardner-Medwin Scale and Medical Research Council (MRC) scale. Muscle magnetic resonance imaging (MRI) was acquired at baseline and in a subgroup of 9 patients after 24 months. Data on cardiac function (electrocardiogram, echocardiogram, and cardiac MRI) were also collected.
UNASSIGNED: Among the clinical heterogeneity, a more severe involvement is often observed in patients with 45-X del, with a disease progression over two years. The 6MWT appears sensitive to detect modification from baseline during follow up while no variation was observed by MRC testing. Muscle MRI of the lower limbs correlates with clinical parameters.Our study further highlights how the phenotypic variability of BMD adult patients makes it difficult to describe an uniform course and substantiates the need to identify predictive parameters and biomarkers to stratify patients.
摘要：
背景：贝克尔肌营养不良症（BMD）是一种由于肌营养不良蛋白基因（DMD）中的框内突变而导致的肌营养不良蛋白病，其决定了肌营养不良蛋白在肌肉水平的减少。BMD具有广泛的临床变异性，具有不同程度的残疾。鉴于即将进行的临床试验，还需要进行自然史研究。
目标：从最初的32名BMD成年受试者的队列中，我们介绍了28例患者的详细表型特征，然后提供他们的临床自然史在12个月的过程中的18和24个月的13。
方法：对每位患者进行基因鉴定。基线,1年和2年评估包括北极星门诊评估(NSAA)，定时功能测试（爬升和下降四个楼梯的时间），6分钟步行测试（6MWT），Walton和Gardner-Medwin量表和医学研究委员会(MRC)量表。24个月后，在基线和9例患者的亚组中获得了肌肉磁共振成像（MRI）。心脏功能数据(心电图，超声心动图,和心脏MRI）也被收集。
结论：在临床异质性中，在45-Xdel患者中经常观察到更严重的受累，疾病进展超过两年。6MWT在随访期间似乎对检测来自基线的改变敏感,而通过MRC测试没有观察到变化。下肢肌肉MRI与临床参数相关。我们的研究进一步强调了BMD成年患者的表型变异性如何难以描述统一的病程，并证实了确定预测参数和生物标志物以对患者进行分层的必要性。
目标：从最初的32名BMD成年受试者的队列中，我们介绍了28例患者的详细表型特征，然后提供他们的临床自然史在12个月的过程中的18和24个月的13。
方法：对每位患者进行基因鉴定。基线,1年和2年评估包括北极星门诊评估(NSAA)，定时功能测试（爬升和下降四个楼梯的时间），6分钟步行测试（6MWT），Walton和Gardner-Medwin量表和医学研究委员会(MRC)量表。24个月后，在基线和9例患者的亚组中获得了肌肉磁共振成像（MRI）。心脏功能数据(心电图，超声心动图,和心脏MRI）也被收集。
结论：在临床异质性中，在45-Xdel患者中经常观察到更严重的受累，疾病进展超过两年。6MWT在随访期间似乎对检测来自基线的改变敏感,而通过MRC测试没有观察到变化。下肢肌肉MRI与临床参数相关。我们的研究进一步强调了BMD成年患者的表型变异性如何难以描述统一的病程，并证实了确定预测参数和生物标志物以对患者进行分层的必要性。
