Surveillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy

描述（由申请人提供）：杜氏和贝克尔肌营养不良症（DBMD）是由编码肌肉蛋白肌营养不良蛋白的基因突变引起的进行性肌肉萎缩性疾病。DBMD的发病率通常为1/3500（0.29/1000），被认为是全球最常见的致命儿科疾病。目前缺乏美国DMD和BMD患病率的研究。我们的长期监测项目的主要目标是：1）确定在该州指定地区的杜氏和贝克肌营养不良症（DBMD）病例，以生成基于人口的DBMD数据; 2）收集关于DBMD患者的护理类型和护理环境的信息，并评估所接受的护理是否会影响DBMD的严重程度或病程，和/或或根据家庭报告和生活质量测量是否满足家庭需要; 3）收集早期体征和症状以及并发症类型和患病率的信息; 4）进行额外的DNA测试并评估DBMD的严重程度或病程是否可以通过突变的类型来预测（例如，基因型-表型相关）;以及5）评估种族、民族、社会经济地位（SES）或其他人口统计学变量是否与患者和家庭接受的护理类型相关。将使用肌营养不良监测跟踪和研究网络（MD STARnet）在过去三年中开发的通用协议和工具。其中包括病例定义和监测协议沿着，以及用于病历摘要、临床审查和汇总数据的软件应用程序。五个参与研究中心（亚利桑那州、科罗拉多州、格鲁吉亚州、爱荷华州和纽约）的神经肌肉专家将继续审查汇总数据，以确定病例是否符合病例标准。多源确定方法是最有效的，并将继续用于确定个人与DBMD。使用了以下类型的来源：神经肌肉专科诊所和诊断设施、出院数据库、社区儿科医生和发育专家以及死亡证明。MD监测与传统的出生缺陷监测不同，因为儿童将在较大的年龄被诊断，并且通常在诊断时不住院。相关性：确定美国DBMD的当前和长期患病率将有助于我们了解（1）疾病对社会的负担，以及（2）各种因素（如遗传咨询和DBMD管理/治疗的变化，特别是泼尼松治疗）是否以及如何影响患病率和长期结局。这些突变的机制和风险因素还没有得到很好的理解，这项研究可能会增加我们的知识，通过有计划的检查各种人口和生活方式的暴露，职业和环境。

DESCRIPTION (provided by applicant): Duchenne and Becker Muscular Dystrophy (DBMD) are progressive muscle wasting diseases caused by a mutation in the gene that codes for the muscle protein, dystrophin. The incidence of DBMD is commonly given as 1/3500 (0.29 per 1,000) male births and is considered the most common lethal pediatric disorder worldwide. Recent studies of prevalence of DMD and BMD in the United States are lacking. The primary objectives of our long-term surveillance project are: 1) to ascertain cases of Duchenne and Becker Muscular Dystrophy (DBMD) in a defined region of the State to generate population-based data on DBMD; 2) to collect information on types of care and care settings for persons with DBMD and evaluate whether care received influences severity or course of DBMD and/or whether it satisfies family needs based on family reports and quality of life measures; 3) to collect information on early signs and symptoms as well as types and prevalence of complications; 4) to conduct additional DNA tests and evaluate whether the severity or course of DBMD can be predicted by the type of mutation (e.g., genotype-phenotype correlation); and 5) to assess whether race, ethnicity, socioeconomic status (SES) or other demographic variables correlate with types of care patients and families receive. Common protocols and tools will be used that were developed by the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) during the past three years. These include a case definition and surveillance protocols along with software applications for medical record abstraction, clinical review and pooled data. Neuromuscular specialists at each of the five participating sites (Arizona, Colorado, Georgia, Iowa and New York) will continue to review pooled data to determine if a case meets case criteria. A multiple source ascertainment methodology has been most efficient and will continue to be used to identify individuals with DBMD. The following types of sources have been used: neuromuscular specialty clinics and diagnostic facilities, the hospital discharge database, community pediatricians and developmental specialists, and death certificates. MD surveillance differs from traditional birth defects surveillance as children will be diagnosed at an older age and usually not hospitalized at the time of diagnosis. RELEVANCE: Determination of the U.S. prevalence of DBMD both currently and over time will help us understand (1) the burden of disease on society and (2) if and how various factors such as genetic counseling and changes in management/treatment of DBMD, particularly prednisone therapy, are influencing prevalence and long-term outcome. The mechanisms and risk factors for these mutations are not well understood, and this study may increase our knowledge here through planned examinations of various demographic and lifestyle exposures, both occupational and environmental.