Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

Author:

Reed Umbertina Conti1

Affiliation:

1. Universidade de São Paulo, Brazil

Abstract

The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glycoproteins-extracellular matrix: CMD with merosin deficiency (CMD1A), collagen VI related CMDs (Ullrich CMD and Bethlem myopathy), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker-Warburg syndrome, CMD1C, CMD1D), and the much rarer CMD with integrin deficiency. Finally, we present other forms of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex (rigid spine syndrome, CMD1B, CMD with lamin A/C deficiency), and some apparently specific clinical forms not yet associated with a known molecular mechanism. The second part of this review concerning the pathogenesis and therapeutic perspectives of the different subtypes of CMD will be described in a next number.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Neurology (clinical)

Reference240 articles.

1. Myology: basic and clinical;Banker BQ,2004

2. Muscle biopsy: a practical approach;Dubowitz V,2006

3. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy;Mostacciuolo ML;Hum Genet,1996

4. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden;Darin N;Neuromuscul Disord,2000

5. Three cases of myopathy, infantile type;Batten FE;Brain,1903

Cited by 66 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3