Resumos
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.
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.
Lineu Cesar WerneckI; Eduardo BonillaII
IProfessor Adjunto ie Neurologia - Trabalho realizado no Serviço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (Curitiba) e H. Houston Merritt Clinical Research Conter for Muscular Dystrophy and Related Diseases, Columbia University (New York)
IIProfessor Associado de Neurologia - Trabalho realizado no Serviço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (Curitiba) e H. Houston Merritt Clinical Research Conter for Muscular Dystrophy and Related Diseases, Columbia University (New York)
RESUMO
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.
SUMMARY
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.
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Dr. Lineu C. Werneck - Rua Ewaldo Schiebler 780 - 82500 Curitiba PR . Brasil.
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Datas de Publicação
-
Publicação nesta coleção
19 Maio 2011 -
Data do Fascículo
Dez 1990