Distrofina na diferenciação das distrofias de duchenne e becker estudo imuno-histoquímico comparado com o estádio clínico, enzimas séricas e biópsia muscular

Werneck, Lineu Cesar; Bonilla, Eduardo

doi:10.1590/S0004-282X1990000400009

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 Werneck^I; Eduardo Bonilla^II

^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.

1. Arahata K, Hoffman E, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H - Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analysis. Proc Natl Acad Sci USA 86:7154-1758, 1989.
2. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT - Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 39:465-474, 1989.
3. Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviat G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP - Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54:447-452, 1988.
4. Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays A, Oliveira ABS, Chang HW, Servidei S, Rícci E, Younger D, DiMauro S - Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 133:440-445, 1988.
5. Bradley WG, Jones MZ, Fawcett PRW - Becker-type muscular dystrophy. Muscle & Nerve 1:111-132, 1978.
6. Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Miller JP, Province MA, Cidd Group - Clinical investigation in Duchenne dystrophy: 2. Determination of the power of therapeutic trials based on the natural history. Muscle & Nerve 6:91-103, 1983.
7. Gospe SM Jr, Lázaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH - Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277-1280, 1989.
8. Gutmann DH, Fischbeck KH - Molecular biology of Duchenne and Becker muscular dystrophy: clinical applications. Ann Neurol 26:189-194, 1989.
9. Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M - DNA deletion in mild and severe Becker muscular dystrophy. Hum Genet 75:281-285, 1987.
10. Hoffman EP, Brown RH Jr, Kunkel LM - Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928, 1987.
11. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke MH, Specht L, Kupsky W, Chamberlain J, Caskey T, Shapiro F, Kunkel LM - Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318:1363-1368, 1988.
12. Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM - Cell and fiber-type distribution of dystrophin. Neuron 1:411-420, 1988.
13. Hoffman EP, Knudson CM, Campbell KP, Kunkel LM - Subcelular fraction of dystrophin to the triads of skeletal muscle. Nature 330:754-758, 1987.
14. Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB - Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39:1011-1017, 1989.
15. Koening M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM - Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517, 1987.
16. Koening M, Monaco AP, Kunkel LM - The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-228, 1988.
17. Markand ON, North RR, D'Agostino AN, Daly DD - Benign sex-linked muscular dystrophy. Neurology 19:617-633, 1969.
18. Medori R, Brooke MH, Waterston RH - Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations. Neurology 39:461-465, 1939.
19. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM - Isolation of candidate cDNAs for portions of the Duchanna muscular dystrophy gene. Nature 323:646-650, 1986.
20. Normam AM, Hughes HE, Gardner-Medwin D, Nicholson LVB - Dystrophin analysis in the diagnosis of muscular dystrophy. Arch Dis Child 04:1501-1503, 1989.
21. Ringel SP, Carroll JE, Schold SC - The spectrum of mild X-linked recessive muscular dystrophy. Arch Neurol 34:408-416, 1977.
22. Rowland LP - Clinical concepts of Duchenne muscular dystrophy. Brain 111:479-495, 1988.
23. Shaw RF, Dreifuss FE - Mild and severe forms of X-linked muscular dystrophy. Arch Neurol 20:451-460, 1969.
24. Werneck LC - O valor da biópsia muscular em neurologia. Rev Bras Clin Terap 10 (ed esp) :2-22, 1981.
25. Werneck LC, Lima JGC - Muscle biopsy correlated with electromyography. Arq Neuro-Psiquiat (São Paulo) 46:156-165, 1988.
26. Zellweger H, Hanson JW - Slowly progressiva X-linked recessive muscular dystrophy (Type Illb). Arch Intern Med 120:525-535. 1967.

Distrofina na diferenciação das distrofias de duchenne e becker estudo imuno-histoquímico comparado com o estádio clínico, enzimas séricas e biópsia muscular

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

Datas de Publicação

Publicação nesta coleção
19 Maio 2011
Data do Fascículo
Dez 1990

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Arahata K, Hoffman E, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H - Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analysis. Proc Natl Acad Sci USA 86:7154-1758, 1989.

[2] 2. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT - Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 39:465-474, 1989.

[3] 3. Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviat G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP - Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54:447-452, 1988.

[4] 4. Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays A, Oliveira ABS, Chang HW, Servidei S, Rícci E, Younger D, DiMauro S - Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 133:440-445, 1988.

[5] 5. Bradley WG, Jones MZ, Fawcett PRW - Becker-type muscular dystrophy. Muscle & Nerve 1:111-132, 1978.

[6] 6. Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Miller JP, Province MA, Cidd Group - Clinical investigation in Duchenne dystrophy: 2. Determination of the power of therapeutic trials based on the natural history. Muscle & Nerve 6:91-103, 1983.

[7] 7. Gospe SM Jr, Lázaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH - Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277-1280, 1989.

[8] 8. Gutmann DH, Fischbeck KH - Molecular biology of Duchenne and Becker muscular dystrophy: clinical applications. Ann Neurol 26:189-194, 1989.

[9] 9. Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M - DNA deletion in mild and severe Becker muscular dystrophy. Hum Genet 75:281-285, 1987.

[10] 10. Hoffman EP, Brown RH Jr, Kunkel LM - Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928, 1987.

[11] 11. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke MH, Specht L, Kupsky W, Chamberlain J, Caskey T, Shapiro F, Kunkel LM - Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318:1363-1368, 1988.

[12] 12. Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM - Cell and fiber-type distribution of dystrophin. Neuron 1:411-420, 1988.

[13] 13. Hoffman EP, Knudson CM, Campbell KP, Kunkel LM - Subcelular fraction of dystrophin to the triads of skeletal muscle. Nature 330:754-758, 1987.

[14] 14. Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB - Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39:1011-1017, 1989.

[15] 15. Koening M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM - Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517, 1987.

[16] 16. Koening M, Monaco AP, Kunkel LM - The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-228, 1988.

[17] 17. Markand ON, North RR, D'Agostino AN, Daly DD - Benign sex-linked muscular dystrophy. Neurology 19:617-633, 1969.

[18] 18. Medori R, Brooke MH, Waterston RH - Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations. Neurology 39:461-465, 1939.

[19] 19. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM - Isolation of candidate cDNAs for portions of the Duchanna muscular dystrophy gene. Nature 323:646-650, 1986.

[20] 20. Normam AM, Hughes HE, Gardner-Medwin D, Nicholson LVB - Dystrophin analysis in the diagnosis of muscular dystrophy. Arch Dis Child 04:1501-1503, 1989.

[21] 21. Ringel SP, Carroll JE, Schold SC - The spectrum of mild X-linked recessive muscular dystrophy. Arch Neurol 34:408-416, 1977.

[22] 22. Rowland LP - Clinical concepts of Duchenne muscular dystrophy. Brain 111:479-495, 1988.

[23] 23. Shaw RF, Dreifuss FE - Mild and severe forms of X-linked muscular dystrophy. Arch Neurol 20:451-460, 1969.

[24] 24. Werneck LC - O valor da biópsia muscular em neurologia. Rev Bras Clin Terap 10 (ed esp) :2-22, 1981.

[25] 25. Werneck LC, Lima JGC - Muscle biopsy correlated with electromyography. Arq Neuro-Psiquiat (São Paulo) 46:156-165, 1988.

[26] 26. Zellweger H, Hanson JW - Slowly progressiva X-linked recessive muscular dystrophy (Type Illb). Arch Intern Med 120:525-535. 1967.