Contribuição para o diagóstico diferencial da distrofia muscular progressiva

Levy, José Antonio

doi:10.1590/S0004-282X1964000200001

Resumos

Os dados fornecidos pela anamnese assim como a sintomatologia nem sempre permitem estabelecer, com segurança, o diagnóstico de distrofia muscular progressiva (DMP); o diagnótico é facilitado quando são obtidos dados heredológicos depondo por afecção de caráter familiar ou quando se trate de casos de longa evolução, mostrando a característica fundamental da irreversibilidade. As provas laboratoriais propostas até agora, embora úteis para a avaliação do estado da consunção do tecido muscular, não fornecem elementos seguros para o diagnóstico diferencial, pois os resultados podem ser idênticos tanto na DMP (especialmente nas fases, iniciais ou de evolução subaguda) como nas polimiosites e nas neuromiosites. De grande importância para o diagnóstico diferencial são a eletromio-grafia e a biopsia muscular: a eletromiografia mostra, na DMP, diminuição da voltagem e redução da duração média dos potenciais de ação, com elevada incidência de potenciais polifásicos; o exame histológico mostra grande variação no calibre e degeneração das fibras musculares com proliferação de tecido conjuntivo, sem infiltrações de caráter inflamatório e sem atividade regenerativa útil. Entretanto, êstes exames complementares não bastam, por si sós, para o diagnóstico diferencial de todos os casos e seus resultados devem ser interpretados cuidadosamente. Neste trabalho são referidos 21 casos que exigiram cuidadoso diagnóstico diferencial. Em 17 (casos 1 a 17), com base na anamnese e na sintomatologia, fôra feito o diagnóstico de DMP; entretanto em todos êles o exame mais minucioso, acrescido de dados fornecidos pela eletromiografia e especialmente pela biopsia, conduziu à formulação de outro diagnóstico. Em dois casos (18 e 19), ambos de moléstia de Charcot-Marie-Tooth, o exame histo-patológico sugeria o diagnóstico de DMP. Em um caso (20) o quadro clínico sugeria DMP e o exame eletromiográfico indicava haver lesão de neurônios motores periféricos, ao passo que a biopsia mostrava lesões mistas de DMP e de atrofia neurogênica. No último caso (21) a sintomatologia clínica depunha por outra afecção, ao passo que a eletromiografia e a biopsia forneceram dados seguros para o diagnóstico de DMP. O autor comenta as dificuldades para o diagnóstico diferencial dos 21 casos relatados.

The anamnestic data and the clinical signs do not always leads to a correct diagnosis of progressive muscular dystrophy (PMD). The diagnosis is easier when hereditary data are present or when the longstanding course of the disease points to its irreversibility. The current laboratory tests, although useful for the evaluation of the muscular wasting, are not a safe aid in the differential diagnosis, since the results can be much alike either in PMD (especially in its onset or in cases with a subacute course) or in polymyositis and neuromyositis. Electromyography and muscle biopsy examination are the most reliable tests for the differential diagnosis. Electromyography shows, in PMD, low voltage and shorter action potentials, and a great incidence of polyphasic potentials. The histologic examination shows a marked variation in the caliber and degeneration of the muscle fibers and proliferation of the conective tissue, with no inflammatory infiltrate or full regeneration. These tests, however, are not sufficient by themselves for the differential diagnosis of all cases and must be carefully interpreted. Twenty-one cases which demanded a careful differential diagnosis are reported. In 17 cases (n.° 1 to 17) the diagnosis of PMD was supported by the anamnesis and the clinical signs; in all of them, however, a more accurate examination, aided by the electromyographic data and particularly by the histological findings, leads to a different diagnosis. In 2 cases (n.° 18 and 19) of Charcot-Marie-Tooth disease, the histopathologic examination suggested the diagnosis of PMD. In case 20 the clinical picture pointed to PMD and the electromyography showed a peripheral nerve lesion, while the histopathologic examination showed a compounl picture of PMD and neurogenic atrophy. In the last case (n.° 21) the clinical picture pointed to other disease, while the electromyography and the histopathologic examination gave safe data for the diagnosis of PMD. The author discusses in detail the difficulties for the differential diagnosis of the 21 cases here reported.

Contribuição para o diagóstico diferencial da distrofia muscular progressiva

On the differential diagnosis of progressive muscular dystrophy

José Antonio Levy

Professor-Assistente da Clínica Neurológica (Professor Adherbal Tolosa)

RESUMO

Os dados fornecidos pela anamnese assim como a sintomatologia nem sempre permitem estabelecer, com segurança, o diagnóstico de distrofia muscular progressiva (DMP); o diagnótico é facilitado quando são obtidos dados heredológicos depondo por afecção de caráter familiar ou quando se trate de casos de longa evolução, mostrando a característica fundamental da irreversibilidade. As provas laboratoriais propostas até agora, embora úteis para a avaliação do estado da consunção do tecido muscular, não fornecem elementos seguros para o diagnóstico diferencial, pois os resultados podem ser idênticos tanto na DMP (especialmente nas fases, iniciais ou de evolução subaguda) como nas polimiosites e nas neuromiosites.

De grande importância para o diagnóstico diferencial são a eletromio-grafia e a biopsia muscular: a eletromiografia mostra, na DMP, diminuição da voltagem e redução da duração média dos potenciais de ação, com elevada incidência de potenciais polifásicos; o exame histológico mostra grande variação no calibre e degeneração das fibras musculares com proliferação de tecido conjuntivo, sem infiltrações de caráter inflamatório e sem atividade regenerativa útil. Entretanto, êstes exames complementares não bastam, por si sós, para o diagnóstico diferencial de todos os casos e seus resultados devem ser interpretados cuidadosamente.

Neste trabalho são referidos 21 casos que exigiram cuidadoso diagnóstico diferencial. Em 17 (casos 1 a 17), com base na anamnese e na sintomatologia, fôra feito o diagnóstico de DMP; entretanto em todos êles o exame mais minucioso, acrescido de dados fornecidos pela eletromiografia e especialmente pela biopsia, conduziu à formulação de outro diagnóstico. Em dois casos (18 e 19), ambos de moléstia de Charcot-Marie-Tooth, o exame histo-patológico sugeria o diagnóstico de DMP. Em um caso (20) o quadro clínico sugeria DMP e o exame eletromiográfico indicava haver lesão de neurônios motores periféricos, ao passo que a biopsia mostrava lesões mistas de DMP e de atrofia neurogênica. No último caso (21) a sintomatologia clínica depunha por outra afecção, ao passo que a eletromiografia e a biopsia forneceram dados seguros para o diagnóstico de DMP. O autor comenta as dificuldades para o diagnóstico diferencial dos 21 casos relatados.

ABSTRACT

The anamnestic data and the clinical signs do not always leads to a correct diagnosis of progressive muscular dystrophy (PMD). The diagnosis is easier when hereditary data are present or when the longstanding course of the disease points to its irreversibility. The current laboratory tests, although useful for the evaluation of the muscular wasting, are not a safe aid in the differential diagnosis, since the results can be much alike either in PMD (especially in its onset or in cases with a subacute course) or in polymyositis and neuromyositis.

Electromyography and muscle biopsy examination are the most reliable tests for the differential diagnosis. Electromyography shows, in PMD, low voltage and shorter action potentials, and a great incidence of polyphasic potentials. The histologic examination shows a marked variation in the caliber and degeneration of the muscle fibers and proliferation of the conective tissue, with no inflammatory infiltrate or full regeneration. These tests, however, are not sufficient by themselves for the differential diagnosis of all cases and must be carefully interpreted.

Twenty-one cases which demanded a careful differential diagnosis are reported. In 17 cases (n.° 1 to 17) the diagnosis of PMD was supported by the anamnesis and the clinical signs; in all of them, however, a more accurate examination, aided by the electromyographic data and particularly by the histological findings, leads to a different diagnosis. In 2 cases (n.° 18 and 19) of Charcot-Marie-Tooth disease, the histopathologic examination suggested the diagnosis of PMD. In case 20 the clinical picture pointed to PMD and the electromyography showed a peripheral nerve lesion, while the histopathologic examination showed a compounl picture of PMD and neurogenic atrophy. In the last case (n.° 21) the clinical picture pointed to other disease, while the electromyography and the histopathologic examination gave safe data for the diagnosis of PMD. The author discusses in detail the difficulties for the differential diagnosis of the 21 cases here reported.

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BIBLIOGRAFIA CONSULTADA

Tese apresentada para concurso à Docência-Livre de Clínica Neurológica na Faculdade de Medicina da Universidade de São Paulo.

Nota do autor - Ao Prof. José Lopes de Faria, do Departamento de Histologia da Faculdade de Medicina da Universidade de São Paulo (Prof. Luíz Carlos Uchôa Junqueira), agradecemos o auxilio prestado nas preparações histopatológicas. Agradecemos, também, a todos os colegas que trabalham na Clinica Neurológica, cujo apoio e colaboração nunca nos faltaram.

Clínica Neurológica - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 3461 - São Paulo, Brasil

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21 Ago 2013
Data do Fascículo
Jun 1964

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