Distrofina na diferenciação das distrofias de duchenne e becker estudo imuno-histoquímico comparado com o estádio clínico, enzimas séricas e biópsia muscular Translated title: Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunofluorescence study of dystrophin in muscle biopsies related with the clinical stage, serum enzymes and histological findings

Abstract

Foram estudados 55 casos de distrofia muscular progressiva (34 Duchenne, 12 Duchenne com distrofina residual e 9 Becker), comparando idade, época de início e tempo de sintomas, graduação na escala de Vignos e Archibald, níveis de enzimas séricas e presença de distrofina nas biópsias musculares por imunofluorescência. A intensidade dos sintomas, gravidade do quadro clínico, proliferação de tecido ccnjuntivo endomisial e infiltração por tecido adiposo estão inversamente relacionadas à quantidade de distrofina presente nas biópsias e, diretamente, à presença de fibras hipertróficas e fibras angulares escuras atróficas. Nos comentários são abordados alguns aspectos sobre a diferenciação da distrofia muscular de Duchenne e Becker, a distrofina residual nos casos de Duchenne e a importância do teste para o diagnóstico adequado.

Translated abstract

Study of 55 cases of progressive muscular dystrophies (34 Duchenne, 12 Duchenne with residual dystrophin and 9 Becker patients) comparing age, age at the initial symptoms, duration of symptoms, levels of serum enzymes, degree of disability measured by the Vignos and Archibald scale, and the type and amount of dystrophin found in the muscle biopsies by immunofluorescence. Statistical analysis showed a tendency of the symptoms and progression of disease to be related with the low quantity of dystrophin in the biopsies. There was no difference in the parameter analysed between the Duchenne patients with, and without residual dystrophin, as well as the Duchenne with residual dystrophin and Becker patients. There was an inverse relation with the amount of dystrophin and¹ the endomysial connective tissue and fatty infilration, and a direct relation with hypertrophic fibers and atrophic angulated fibers in the NADH-tetrazolium reductase. In the comments a discussion is made about the difficulties in differentiate Duchenne and Becker dystrophies, the cases with residual dystrophin and the importance of the correct diagnosis.