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

Arquivos de Neuro-Psiquiatria

Umbertina Conti Reed¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina Departamento de NeurologiaSão Paulo SP ,Brazil

关键词: congenital muscular dystrophy;    MDC1A;    collagen VI related disorders;    glycosylation of alpha-dystroglycan;    Fukuyama DMC;    muscle-eye-brain (MEB) disease;    Walker-Warburg syndrome;    rigid spine syndrome;    distrofia muscular congênita;    merosina;    colágeno VI;    glicosilação da alfa-distroglicana;    DMC Fukuyama;    DMC "muscle-eye-brain"-MEB;    síndrome de Walker-Warburg;    espinha rígida;   

DOI  :  10.1590/S0004-282X2009000100038

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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