Congenital Muscular Dystrophy Workshop

University Of Iowa, Iowa City IA

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Linked publications & trials

Abstract

[unreadable] 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. [unreadable] [unreadable] [unreadable] [unreadable]