Distrofia miotônica: aspectos clínico-laboratoriais em 19 casos

Scaff, Milberto; Tsanaclis, Ana Maria C.; Levy, José Antonio

doi:10.1590/S0004-282X1974000300004

Resumos

São relatados os casos de 19 pacientes com distrofia miotônica. São discutidos alguns aspectos clínicos e para-clínicos da doença: eletroforese e imunoeletroforese de proteínas do sôro, eletrocardiograma, eletrencefalograma, radiografia de crânio e pneumencefalograma. Os resultados apresentados foram comparados àqueles da literatura.

Some clinical and laboratorial data in 19 patients with myotonic dystrophy are reported. The results of electrophoresis of serum proteins, X-ray of skull, pneumoencephalogramm and electromyogramm are similar to those reported by other authors. Electrocardiographic studies disclosed: left or right anterior hemiblock in 37,50% of the patients; rythm disturbances in 12,50%, and other alterations included supra-ventricular extrassystoles, right branck block and disturbances in intra-ventricular conduction. The results of serum protein immuno-elecrophoresis were as follows: IgA — normal in 61,25%, increased in 18,75% and decreased in 12,50%; IgM — normal in 43,75%, increased in 37,50% and decreased in 18,75%; IgG — normal in 31,25%, increased in 25% and decreased in 43,75%. Abnormalities of immunoglobulins were found to be mainly in IgG fractions, but also in IgA and IgM. Although IgC was significantly decreased in our patients we found other abnormalities of immunoglobulins with no definite pattern.

Distrofia miotônica. Aspectos clínico-laboratoriais em 19 casos

Myotonic dystrophy: some clinical and laboratorial data in 19 cases

Milberto Scaff^I; Ana Maria C. Tsanaclis^II; José Antonio Levy^III

^IClínica Neurológica (Prof. H. M. Canelas) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo: Assistente

^IIClínica Neurológica (Prof. H. M. Canelas) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo: Residente

^IIIClínica Neurológica (Prof. H. M. Canelas) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo: Docente-Livre

RESUMO

São relatados os casos de 19 pacientes com distrofia miotônica. São discutidos alguns aspectos clínicos e para-clínicos da doença: eletroforese e imunoeletroforese de proteínas do sôro, eletrocardiograma, eletrencefalograma, radiografia de crânio e pneumencefalograma. Os resultados apresentados foram comparados àqueles da literatura.

SUMMARY

Some clinical and laboratorial data in 19 patients with myotonic dystrophy are reported. The results of electrophoresis of serum proteins, X-ray of skull, pneumoencephalogramm and electromyogramm are similar to those reported by other authors. Electrocardiographic studies disclosed: left or right anterior hemiblock in 37,50% of the patients; rythm disturbances in 12,50%, and other alterations included supra-ventricular extrassystoles, right branck block and disturbances in intra-ventricular conduction. The results of serum protein immuno-elecrophoresis were as follows: IgA normal in 61,25%, increased in 18,75% and decreased in 12,50%; IgM normal in 43,75%, increased in 37,50% and decreased in 18,75%; IgG normal in 31,25%, increased in 25% and decreased in 43,75%. Abnormalities of immunoglobulins were found to be mainly in IgG fractions, but also in IgA and IgM. Although IgC was significantly decreased in our patients we found other abnormalities of immunoglobulins with no definite pattern.

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Clínica Neurológica Faculdade de Medicina da Universidade de São Paulo Caixa Postal 3461 01000 São Paulo, SP Brasil.

1. ADAMS, R. D.; DENNY-BROWN, D. & PEARSON, C. M. Diseases of Muscle. 2nd Ed. Harper & Brithers, New York, 1962.
2. BUNDEY, S.; CARTER, C. O. & SOOTHILL, J. F. Early recognition of heterozygotes for the gene for dystrophia myotonica. J. Neurol. Neurosurg. Psychiat. 33:279, 1970.
3. CAUGHEY, J. E. Radiological changes in the skull in dystrophia myotonica. J. Bone. Jt. 34b :343, 1952.
4. DeWIND, L. T. & JONES, R. J. Cardiovascular observations in dystrophia myotonica. JAMA 144:299, 1950.
5. DYKEN, P. R. & HARPER, P. S. Congenital dystrophia myotonica. Neurology (Minneapolis) 23:465, 1973.
6. FLEISCHER, B. Ueber myotonischen Dystrophie. Muench. med. Wschr. 64: 1630, 1917.
7. FISCH, C. The heart in dystrophia myotonica. Am. Heart. J. 41:522, 1951.
8. GOODMAN, R. M. Genetic Disorders of Man. Little Brown Co., Boston, 1970, pág. 215.
9. HARRIGA, J.; MATTHYS, ET.; MECHLER, L. & JONCKHEER, B. Sur certains aspects cliniques et génétiques de la myotonie atrophique. Acta Neurol. Bélgica 69:215, 1969.
10. JENSEN, J.; JENSEN, K. B. & JARNUM, S. Turnover of IgM in myotonic dystrophy. Neurology (Minneapolis) 21: 68, 1971.
11. JUBERT-GRUART, J. Enfermedad de Steinert. In Enfermedades Musculares J. M. Espadaler; M. Balcells & Jubert. Salvat, Barcelona, 1971.
12. JULIÃO, O. F. & MELARAGNO FILHO, R. Distrofia muscular familiar: a propósito de 3 casos de moléstia de Steinert. Arq. Neuro-Psiquiat. (São Paulo) 1:101, 1943.
13. KLEIN, D. La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) em Suisse. J. Genét. Hum. Suppl. 7: 368, 1958.
14. LOWENTHAL, A. & VAN SANDE, M. Nouvelles déterminations des fractions protéiniques dnas le sérum des patients atteints d'affections musculaires. Rev. Franc. Etud. Clin. Biol. 1: 766, 1956.
15. REFSUM, S. & IÖNNUM, A. Dystrophia myotonica: repeated pneumoencephalic studies in ten patients. Neurology (Minneapolis) 17: 345, 1967.
16. SERRATRICE, G. & ROUX, H. Leçons de Pathologie Musculaire. Libraire Maloine S.A., Paris, 1988.
17. SILVA, J. B. & BARBIERI, T. A. Distrofia miotônica: análise clínico-genética de uma família. Arq. Neuro-Psiquiat. (São Paulo) 28:65, 1970.
18. SPINA-FRANCA, A. Eletroforese em papel das proteínas do líquido cefalorraquidiano: III Técnica. Arq. Neuro-Psiquiat. (São Paulo) 16:236, 1958.
19. WATTERS, G. V. & WILLIAMS, T. W. Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature. Arch. Neurol. (Chicago) 17: 137, 1967.
20. WOCHNER, R. D.; DREWS, G.; STROBER. W. & WALDMANN, T. A. Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. J. Clin. Invest. 45: 321, 1966.
21. ZELLWEGER, H. & IONASESCU, V. Myotonic dystrophy and its differential diagnosis. Acta Neurol. Scandinavica Suppl. 55, 49: 1973.

Datas de Publicação

Publicação nesta coleção
12 Abr 2013
Data do Fascículo
Set 1974

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

[1] 1. ADAMS, R. D.; DENNY-BROWN, D. & PEARSON, C. M. Diseases of Muscle. 2nd Ed. Harper & Brithers, New York, 1962.

[2] 2. BUNDEY, S.; CARTER, C. O. & SOOTHILL, J. F. Early recognition of heterozygotes for the gene for dystrophia myotonica. J. Neurol. Neurosurg. Psychiat. 33:279, 1970.

[3] 3. CAUGHEY, J. E. Radiological changes in the skull in dystrophia myotonica. J. Bone. Jt. 34b :343, 1952.

[4] 4. DeWIND, L. T. & JONES, R. J. Cardiovascular observations in dystrophia myotonica. JAMA 144:299, 1950.

[5] 5. DYKEN, P. R. & HARPER, P. S. Congenital dystrophia myotonica. Neurology (Minneapolis) 23:465, 1973.

[6] 6. FLEISCHER, B. Ueber myotonischen Dystrophie. Muench. med. Wschr. 64: 1630, 1917.

[7] 7. FISCH, C. The heart in dystrophia myotonica. Am. Heart. J. 41:522, 1951.

[8] 8. GOODMAN, R. M. Genetic Disorders of Man. Little Brown Co., Boston, 1970, pág. 215.

[9] 9. HARRIGA, J.; MATTHYS, ET.; MECHLER, L. & JONCKHEER, B. Sur certains aspects cliniques et génétiques de la myotonie atrophique. Acta Neurol. Bélgica 69:215, 1969.

[10] 10. JENSEN, J.; JENSEN, K. B. & JARNUM, S. Turnover of IgM in myotonic dystrophy. Neurology (Minneapolis) 21: 68, 1971.

[11] 11. JUBERT-GRUART, J. Enfermedad de Steinert. In Enfermedades Musculares J. M. Espadaler; M. Balcells & Jubert. Salvat, Barcelona, 1971.

[12] 12. JULIÃO, O. F. & MELARAGNO FILHO, R. Distrofia muscular familiar: a propósito de 3 casos de moléstia de Steinert. Arq. Neuro-Psiquiat. (São Paulo) 1:101, 1943.

[13] 13. KLEIN, D. La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) em Suisse. J. Genét. Hum. Suppl. 7: 368, 1958.

[14] 14. LOWENTHAL, A. & VAN SANDE, M. Nouvelles déterminations des fractions protéiniques dnas le sérum des patients atteints d'affections musculaires. Rev. Franc. Etud. Clin. Biol. 1: 766, 1956.

[15] 15. REFSUM, S. & IÖNNUM, A. Dystrophia myotonica: repeated pneumoencephalic studies in ten patients. Neurology (Minneapolis) 17: 345, 1967.

[16] 16. SERRATRICE, G. & ROUX, H. Leçons de Pathologie Musculaire. Libraire Maloine S.A., Paris, 1988.

[17] 17. SILVA, J. B. & BARBIERI, T. A. Distrofia miotônica: análise clínico-genética de uma família. Arq. Neuro-Psiquiat. (São Paulo) 28:65, 1970.

[18] 18. SPINA-FRANCA, A. Eletroforese em papel das proteínas do líquido cefalorraquidiano: III Técnica. Arq. Neuro-Psiquiat. (São Paulo) 16:236, 1958.

[19] 19. WATTERS, G. V. & WILLIAMS, T. W. Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature. Arch. Neurol. (Chicago) 17: 137, 1967.

[20] 20. WOCHNER, R. D.; DREWS, G.; STROBER. W. & WALDMANN, T. A. Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. J. Clin. Invest. 45: 321, 1966.

[21] 21. ZELLWEGER, H. & IONASESCU, V. Myotonic dystrophy and its differential diagnosis. Acta Neurol. Scandinavica Suppl. 55, 49: 1973.