MD STARnet: Feasibility of Expansion to other Muscular Dystrophies

项目摘要 肌肉营养不良是一组遗传性、致残性疾病，目前还没有针对这些疾病的 治病，治标不治本。肌营养不良症的类型在临床上有以下区别 发病年龄和肌群受累类型。在儿童中，最常见的类型 Duchenne和Becker肌营养不良症(DBMD)是常见的X连锁等位基因疾病 据报道，每3500名男婴中就有一名受到影响。肌营养不良症的监测、跟踪和 研究网络(MD STARnet)最初是为了进行以人口为基础的 DBMD的确定和患病率估计，以及记录早期迹象和 症状、接受的护理类型以及影响这些患者预后的因素 精神错乱。2002年，爱荷华州先天性和遗传性疾病登记处(IRCID)是 MD STARnet的四个特许权获得者，并于2006年成功退款。作为医学博士 STARnet网站，我们成功地整合了临床、方案和转诊资源 由爱荷华州的相关利益攸关方提供IRCID的资源，以建立 全州范围的DBMD监测基础设施，并实施长期后续行动 患有DBMD的个人及其家人。MD STARnet创建的基础设施可以 现在用来促进关于流行率、人口统计、医疗保健覆盖范围、 以及受其他类型MD影响的个人和家庭接受的临床护理。对于 对于目前的项目，IRCID建议让现有的利益攸关方参与并建立伙伴关系 与新的利益相关者成功地继续作为参与的MD STARnet站点：1) 继续进行以人口为基础的DBMD监测和研究；2)设计和 对另外七种肌营养不良症(先天性、 远端、Emery-Dreifuss、面肩-肱骨、四肢带、肌强直和眼咽部)； 评估对所有肌肉组织进行基于人群的监测的方法 营养不良；以及4)使用信息分析数据、发表文章和发布报告 为杜兴·贝克尔肌营养不良症收集的。使用基于人口的方法 MD STARnet，我们可以更好地了解这些额外的 MDS及其并发症。收集的信息还有助于提供治疗和 对具有这些额外MD的个人有利的支持选项以及标识唯一 这些人及其家人的需要。

Project Summary The muscular dystrophies are a group of inherited, disabling diseases for which there are no cures, only treatment of symptoms. Types of muscular dystrophy are distinguished clinically by age at onset and pattern of muscle group involvement. Among children, the most common types are Duchenne and Becker muscular dystrophies (DBMD), X-linked allelic disorders commonly reported to affect one in 3,500 male births. The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) was originally established to conduct population-based ascertainment and prevalence estimation for DBMD, as well as document early signs and symptoms, types of care received, and factors affecting outcomes of individuals with these disorders. In 2002, the Iowa Registry for Congenital and Inherited Disorders (IRCID) was one of four charter awardees for the MD STARnet and was successfully refunded in 2006. As an MD STARnet site, we have 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. The infrastructure created by the MD STARnet can now serve to advance knowledge about the prevalence, demographics, health care coverage, and clinical care received by individuals and families affected by other types of MD. For the current project, the IRCID proposes to engage existing stakeholders and establish partnerships with new stakeholders to successfully continue as a participating MD STARnet site to: 1) continue to conduct population-based surveillance and research for DBMD; 2) design and implement population-based surveillance for seven additional muscular dystrophies (congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal); 3) assess the methodology for conducting population-based surveillance for all muscular dystrophies; and 4) analyze data, publish articles, and disseminate reports using information collected for Duchenne Becker muscular dystrophies. Using the population-based approach of the MD STARnet, we can gain increased understanding of the epidemiology of these additional MDs and their complications. The information collected can also aid in providing treatment and support options beneficial to individuals with these additional MDs as well as identify unique needs of these individuals and their families.