Congenital Muscular Dystrophy Workshop

描述（由申请人提供）：本提案旨在获得资金，以支持将于2008年7月在美国爱荷华州爱荷华州市爱荷华州大学举办的先天性肌营养不良研讨会。先天性肌营养不良症（CMD）是一组临床和遗传异质性的肌肉和发育疾病，其临床特征包括严重的虚弱，关节挛缩，以及破坏性的大脑和眼睛畸形。预期寿命从几个月到几年不等。本次研讨会的主要目标是将对CMD感兴趣的临床和基础科学界的代表聚集在一起，以评估当前的知识状况并促进未来的合作努力。来自美国、几个欧洲国家、澳大利亚、加拿大和日本的专家已经同意参加。该研讨会将作为一个论坛，用于改善患者识别和遗传诊断，开发患者登记，了解疾病病理学，并确定开发全谱CMD治疗方法的途径。研讨会报告将通过韦尔斯通肌肉营养不良合作研究中心在线发表。与公共卫生有关：该提案旨在获得资金，以支持先天性肌营养不良症研讨会，该研讨会将作为一个论坛，以改善患者识别和遗传诊断，开发患者登记册，并集思广益潜在的治疗方法。先天性肌营养不良症是一组异质性遗传性肌肉和发育疾病，其临床特征包括严重虚弱、关节挛缩以及破坏性脑和眼畸形。预期寿命从几个月到几年不等。

DESCRIPTION (provided by applicant): This proposal seeks to obtain funding to support a Congenital Muscular Dystrophy Workshop that will be held at the University of Iowa, Iowa City, IA, USA in July 2008. Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of muscle and developmental diseases with clinical features that include severe weakness, joint contractures, and devastating brain and eye malformations. Life expectancy ranges from a few months to a few years. The primary goal of this workshop is to bring together representatives of the clinical and basic science communities with an interest in CMD to assess the current state of knowledge and foster future collaborative efforts. Experts from the USA, several European countries, Australia, Canada and Japan have already agreed to attend. This workshop will serve as a forum for improving patient identification and genetic diagnosis, developing a patient registry, understanding disease pathology, and identifying pathways for the development of therapies for the full spectrum of CMD. A Workshop report will be published online through the Wellstone Muscular Dystrophy Cooperative Research Centers. Relevant to Public Health: This proposal seeks to obtain funding to support a Congenital Muscular Dystrophy Workshop that will serve as a forum for improving patient identification and genetic diagnosis, developing a patient registry, and brainstorming potential therapeutic approaches. The congenital muscular dystrophies are a heterogeneous group of inherited muscle and developmental diseases with clinical features that include severe weakness, joint contractures, and devastating brain and eye malformations. Life expectancy ranges from a few months to a few years.