Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

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/S0004-282X2009000200035

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. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.

【 授权许可】

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