Surveillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy

描述(申请人提供)：Duchenne/Becker肌营养不良症(DBMD)代表一系列X连锁疾病，由dystrophin基因突变引起。由于该基因的大小，有很高的新突变率，使得根除DBMD的可能性不大。需要以人群为基础的全面监测以及对DBMD患者个人的长期跟踪，以确定这种疾病及其并发症的发生特点，并评估提供保健的方法、具体的医疗和外科干预措施以及对受影响个人及其家人的心理社会影响。2002年，爱荷华州先天性和遗传性疾病登记处(IRCID)是肌肉营养不良监测、跟踪和研究网络(MD STARnet)的四个特许奖获得者之一。作为MD STARnet网站，我们成功地将爱荷华州相关利益相关者提供的临床、方案和转诊资源与IRCID的资源整合在一起，为DBMD监测建立了全州范围的基础设施，并对DBMD患者及其家人进行了长期跟踪。我们还在爱荷华州的家庭中进行了需求评估，以更好地了解DBMD对个人及其家庭的影响，并确定资源差距和获取资源的障碍。此外，我们为疾病控制和预防中心(CDC)和参与站点建立和维护了MD STARnet数据协调中心(DCC)。对于目前的协议，我们建议成功地继续作为MD STARnet网站和MD STARnet DCC：1)生成美国DBMD的基于人群的患病率和发病率，特别注意不同时间和不同种族/民族的发病率的差异；2)识别DBMD的早期迹象和症状，以便于早期诊断；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/民族和社会经济状况而异；以及4)调查可能影响DBMD严重程度或病程的因素，包括医疗管理和遗传和环境因素。使用这种以人群为基础的方法，我们将加深对这种疾病及其并发症的流行病学的了解，这将使我们能够制定更好的治疗DBMD患者的指南。

DESCRIPTION (provided by applicant): Duchenne/Becker muscular dystrophy (DBMD) represents a spectrum of X-linked disorders that result from mutations in the dystrophin gene. Due to the large size of this gene, there is a high new mutation rate making eradication of DBMD unlikely. Comprehensive, population-based surveillance along with long-term follow-up of individuals with DBMD is needed to characterize the occurrence of this disorder and its complications and to evaluate methods of delivery of health care, specific medical and surgical interventions and psychosocial impact for affected individuals and their families. In 2002, the Iowa Registry for Congenital and Inherited Disorders (IRCID) was one of four charter awardees for the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). As an MD STARnet site, we successfully integrated clinical, programmatic and referral resources provided by relevant stakeholders in Iowa with the resources of the IRCID to establish a statewide infrastructure for DBMD surveillance and to implement long-term follow-up of individuals with DBMD and their families. We also conducted a needs assessment among Iowa families to better understand the impact DBMD has on individuals and their families and to identify gaps in resources and barriers to accessing resources. In addition, we established and maintained the MD STARnet Data Coordination Center (DCC) for the Centers for Disease Control and Prevention (CDC) and participating sites. For the current agreement, we propose to successfully continue as an MD STARnet site and the MD STARnet DCC 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 to facilitate early diagnosis; 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 factors that may impact the severity or course of DBMD including medical management and genetic and environmental factors. Using this population-based approach, we will gain increased understanding of the epidemiology of this disorder and its complications, which will allow for development of improved guidelines for care for individuals with DBMD.