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Author Reed, Umbertina Conti
Source Directory of Open Access Journals (DOAJ)
Content type Text
Publisher Academia Brasileira de Neurologia (ABNEURO)
File Format HTM / HTML
Date Created 2013-09-04
Copyright Year ©2009
Language English
Subject Domain (in LCC) RC321-571
Subject Keyword MDC1A ♦ Muscle-eye-brain (MEB) disease ♦ Rigid spine syndrome ♦ Neurosciences ♦ Internal medicine ♦ Colágeno VI ♦ Síndrome de Walker-Warburg ♦ Neuropsychiatry ♦ DMC "muscle-eye-brain"-MEB ♦ Glycosylation of alpha-dystroglycan ♦ Distrofia muscular congênita ♦ Fukuyama DMC ♦ Collagen VI related disorders ♦ Biological psychiatry ♦ Glicosilação da alfa-distroglicana ♦ DMC Fukuyama ♦ Medicine ♦ Merosina ♦ Congenital muscular dystrophy ♦ Espinha rígida ♦ Walker-Warburg syndrome
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. 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.As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. São caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. O quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. Os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MEB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.
ISSN 0004282X
Age Range 18 to 22 years ♦ above 22 year
Educational Use Research
Education Level UG and PG ♦ Career/Technical Study
Learning Resource Type Review
Publisher Date 2009-06-01
e-ISSN 0004282X
Journal Arquivos de Neuro-Psiquiatria
Volume Number 67
Issue Number 2a
Page Count 19
Starting Page 343
Ending Page 362


Source: Directory of Open Access Journals (DOAJ)