Sureillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy

描述(由申请人提供)：Duchenne和Becker肌营养不良症(DBMD)是一种X连锁疾病，据推测每3,500名男性新生儿中就有1人受到影响。这些情况伴随着进行性肌肉无力的过程，导致十几岁到二十出头的死亡。因此，这些疾病对医疗系统、社区和家庭的影响是巨大的。通过《2001年肌肉营养不良症社区援助、研究和教育修正案》，美国国会颁布了立法，对包括DBMD在内的各种形式的肌肉营养不良症进行研究。该法的一部分授权建立国家肌肉营养不良流行病学方案，在该方案中，部长通过疾病控制和预防中心(CDC)主任的行动，规定了DBMD的国家监测方案，目的是开展流行病学活动，包括收集和分析有关DBMD患者的人数、发病率、相关性和症状的信息。为了完成这项任务，2002年，疾控中心授予了四个地点--亚利桑那州、科罗拉多州、爱荷华州和纽约州--的合作协议，以开发一个监测网络，即肌营养不良症监测跟踪和研究网络(MD STARnet)。在过去的四年里，MD STARnet网站一直在开发和实施流行病学方法，这些方法将使人们更好地了解DBMD。在目前的项目中，科罗拉多州公共卫生和环境部建议继续作为参与的MD STARnet网站：1)生成美国DBMD的基于人群的流行率和发病率，特别注意不同时间和种族/民族的发病率的差异；2)确定DBMD的早期迹象和症状；3)描述DBMD患者的家庭获得的医疗和社会服务以及生活质量，以及这些是否因种族/民族和社会经济地位而异；以及4)调查DBMD的严重程度或病程是否受到接受的护理类型的变化和所发现的突变类型的影响。我们相信，上述目标和活动的实现将对临床医生和家庭都有意义，并将有助于指导制定肌营养不良症的护理标准。

DESCRIPTION (provided by applicant): Duchenne and Becker muscular dystrophies (DBMD) are X-linked disorders presumed to affect 1 in 3,500 male births. These conditions follow a course of progressive muscle weakness leading to death in the late teens to early twenties. As such, the impact of these conditions on medical systems, communities, and families is significant. Through the 'Muscular Dystrophy Community Assistance, Research and Education Amendments of 2001', the United States Congress enacted legislation to provide for research with respect to various forms of muscular dystrophy, including DBMD. A part of this Act authorized the creation of a National Muscular Dystrophy Epidemiology Program, in which the Secretary, acting through the Director of the Centers for Disease Control and Prevention (CDC), provided for a national surveillance program for DBMD for the purpose of carrying out epidemiological activities, including collecting and analyzing information on the number, incidence, correlates, and symptoms of those individuals with DBMD. To fulfill this mandate, in 2002, the CDC awarded four sites - Arizona, Colorado, Iowa and New York - cooperative agreements to develop a surveillance network, the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet). MD STARnet sites have been developing and implementing epidemiologic methods that will lead to a better understanding of DBMD over the past four years. For the current project, the Colorado Department of Public Health and Environment proposes to continue as a participating MD STARnet site to: 1) Generate population-based prevalence and incidence rates for DBMD in the United States with particular attention to differences in rates over time and by race/ethnicity; 2) Identify the early signs and symptoms of DBMD; 3) Describe the medical and social services received and quality of life of families of patients with DBMD and whether these vary by race/ethnicity and socioeconomic status; and 4) Investigate whether the severity or course of DBMD is influenced by variation in type of care received and by type of mutation identified. We believe that the accomplishment of the objectives and activities above will be meaningful to both clinicians and families and will help to guide the development of standards of care for muscular dystrophy.