Distrofia muscular congênita estudo clinico de 17 pacientes

Oliveira, A. S. B.; Gabbai, A. A.; Kiyomoto, B. H.; Ferreira Neto, A.; Schmidt, B.; Lima, J. G. C.

doi:10.1590/S0004-282X1991000300006

Resumos

Descrevemos 17 pacientes (12m, 5f) com idades que variaram de 1 a 24 anos (mediana 6 anos) com distrofia muscular congênita (DMC), que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5%) ou possivelmente autossômica recessiva (23,5%). A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hipodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.

CONTENTS CONTEÚDO

Distrofia muscular congênita estudo clinico de 17 pacientes

Congenital muscular dystrophy: a clinical report on 17 patients.

A. S. B. OliveiraI; A. A. GabbaiII; B. H. KiyomotoI; A. Ferreira NetoIII; B. SchmidtIV; J. G. C. LimaV

IPós-graduando - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IIProfessor Adjunto - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IIIEstagiário - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IVProfessor de Pós-Graduação - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

VProfessor Titular - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

RESUMO

Descrevemos 17 pacientes (12m, 5f) com idades que variaram de 1 a 24 anos (mediana 6 anos) com distrofia muscular congênita (DMC), que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5%) ou possivelmente autossômica recessiva (23,5%). A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.

SUMMARY

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hipodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.

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Dr. Acary S. B. Oliveira - Rua Botucatu 447 - 04023 São Paulo SP - Brasil.

1. Banker BQ, Victor M, Adams RD. Arthrogriposis multiplex due to congenital muscular distrophy. Brain 1957, 80:319-334.
2. Bethlem J, van Wijngaarden GK. Benign myopathy, with autossomal dominant inheritance: a report on three pedigrees. Brain 1976, 99:91-100.
3. Deffémenis-Rospide HA, Vicent O, Gaudin ES, Scarabino R, Médici M. Distrofia muscular congênita pura: ubicación nosológica, frecuencia, aspectos clínicos y evolutivos y classification. Acta Neurol Latino Amer 1972, 18:20-38.
4. Donner M, Rapola J, Somer H. Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropadiatrie 1975, 6:239-258.
5. Dubowitz V. Muscle Disorders in Childhood. London: W.B. Saunders, 1978, p 59-64.
6. Dubowitz V. Pseudomuscular dystrophy. Research Committee of the Muscular Dystrophy Group of Great Britain (eds) : Research in Muscular Dystrophy - Proceedings of the Third Symposium. London: J.B. Lippincott, 1965, p 57-73.
7. Echenne B, Astruc J, Brunei D. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983, 14:97-101.
8. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ Tokyo 1960, 4:5-8.
9. Gardner-Medwin D, Walton JN. The clinical examination of the voluntary muscles. In Walton JN (eds) : Disorders of Voluntary Muscle. Ed 3. Edinburgh: Churchill-Livingstone, 1974.
10. Goebel HH, Lenard HG, Langenbeck U, Mehl B. A form of congenital muscular dystrophy. Brain Dev 1980, 2:387-400.
11. Gubbay SS, Walton JN, Pearce GW. Clinical and pathological study of a case of congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 1966, 29:500-508.
12. Jones R, Khan R, Hughes S, Dubowitz V. Congenital muscular dystrophy: importance of early diagnosis and orthopaedic management in the long term prognosis. J. Bone Joint Surg 1979, B61:13-7.
13. Kihira S, Nonaka I. Congenital muscular dystrophy: a histochemical study with mor-phometric analysis on biopsied muscles. J Neurol Sci 1985, 70:139-149.
14. Lelong M, Canlorbe P, Le Tan-Vinh, Dalloz JC, Corbin JL, Vassal J. Myopathie chez une fille de 9 ans revélée à la naissance par une hypotonie musculaire generalisée. Arch Franc Péd 1962, 19:581-596.
15. Levy JA, Alegro MSC, Salum PNB, Brotto MW, Levy A. Distrofia muscular progressiva congênita tipo Fukuyama: Descrição de um caso. Arq Neuro-Psiquiat (São Paulo) 1987, 45:188-192.
16. McMenamin JB, Becker LE, Murphy EG. Congenital muscular dystrophy, a clinicopa-thologic report of 24 cases. J Pediatr 1982, 100:692-697.
17. Moerman P, Fryns JP, van Dijck H, Lauweryns JM. Congenital muscular dystrophy associated with letal arthrogryposis multiplex congenita. Virchows Arch (Pathol Anat) 1985, 408:343-348.
18. Nogen AG. Congenital muscle disease and abnormal findings on computerized tomography. Dev Med Child Neurol 1980, 22:658-663.
19. Oliveira ASB. Distrofia muscular congênita: estudo de 17 pacientes. Tese de Mestrado, Escola Paulista de Medicina. São Paulo, 1988.
20. Oliveira ASB, Schmidt B, Ferreira A Neto, Kiyomoto BH, Gabbai AA, Lima JGC. Distrofia muscular congênita: estudo histoquímico do músculo esquelético de 17 pacientes. Arq Neuro-Psiquiat (São Paulo) 1991, 49:185-191.
21. Otto HF, Lucking T. Congenitale muskeldystrophie: Licht und elektronnemikroskopische Befunde, Virchwos Arch (Path Anat) 1971, 352:324-329.
22. Pearson CM, Fowler WG. Hereditary non progressive muscular dystrophy inducing arthrogryposis syndrome. Brain 1963, 86:75-88.
23. Rotthauwe HW, Kowalewski S, Mumenthaler M. Kongenitale Muskeldystrophie. Z Kindern 1969, 106:131-162.
24. Serratrice G, Cros D, Pellissier JF, Gastaut JL, Pouget J. Distrophie musculaire congénitale. Rev Neurol (Paris) 1980, 136:445-472.
25. Spiller WG. General or localized hypotonia of the muscles in childhood (myotonia congenita). Med Bull Peoria 1904-1905, 17:342-346.
26. Turner JWA, Lees F. Congenital myopathy: a fifty year follow-up. Brain 1962, 85:733-740.
27. Vassella F, Mumenthaler M, Rossi E, Moser H, Wiesmann U. Die kongenitale Muskeldystrophie. Dtsch Z Nervenh 1967, 190:349-374.
28. Yoshioka M, Okuno T, Honda Y, Nakano Y. Central nervous system involvement in progressive muscular dystrophy. Arch Dis Childh 1980, 55:589-594.
29. Zellweger H, Afifi A, McCormick WF, Mergner W. Severe congenital muscular dystrophy. Am J Dis Child 1967, 114:591-602.
30. Zellweger H, Afifi A, McCormick WF, Mergner W. Benign congenital muscular dis-trophy: a special form of congenital hypotonia. Clin Pediatr 1967, 6:655-663.

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Set 1991

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

[1] 1. Banker BQ, Victor M, Adams RD. Arthrogriposis multiplex due to congenital muscular distrophy. Brain 1957, 80:319-334.

[2] 2. Bethlem J, van Wijngaarden GK. Benign myopathy, with autossomal dominant inheritance: a report on three pedigrees. Brain 1976, 99:91-100.

[3] 3. Deffémenis-Rospide HA, Vicent O, Gaudin ES, Scarabino R, Médici M. Distrofia muscular congênita pura: ubicación nosológica, frecuencia, aspectos clínicos y evolutivos y classification. Acta Neurol Latino Amer 1972, 18:20-38.

[4] 4. Donner M, Rapola J, Somer H. Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropadiatrie 1975, 6:239-258.

[5] 5. Dubowitz V. Muscle Disorders in Childhood. London: W.B. Saunders, 1978, p 59-64.

[6] 6. Dubowitz V. Pseudomuscular dystrophy. Research Committee of the Muscular Dystrophy Group of Great Britain (eds) : Research in Muscular Dystrophy - Proceedings of the Third Symposium. London: J.B. Lippincott, 1965, p 57-73.

[7] 7. Echenne B, Astruc J, Brunei D. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983, 14:97-101.

[8] 8. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ Tokyo 1960, 4:5-8.

[9] 9. Gardner-Medwin D, Walton JN. The clinical examination of the voluntary muscles. In Walton JN (eds) : Disorders of Voluntary Muscle. Ed 3. Edinburgh: Churchill-Livingstone, 1974.

[10] 10. Goebel HH, Lenard HG, Langenbeck U, Mehl B. A form of congenital muscular dystrophy. Brain Dev 1980, 2:387-400.

[11] 11. Gubbay SS, Walton JN, Pearce GW. Clinical and pathological study of a case of congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 1966, 29:500-508.

[12] 12. Jones R, Khan R, Hughes S, Dubowitz V. Congenital muscular dystrophy: importance of early diagnosis and orthopaedic management in the long term prognosis. J. Bone Joint Surg 1979, B61:13-7.

[13] 13. Kihira S, Nonaka I. Congenital muscular dystrophy: a histochemical study with mor-phometric analysis on biopsied muscles. J Neurol Sci 1985, 70:139-149.

[14] 14. Lelong M, Canlorbe P, Le Tan-Vinh, Dalloz JC, Corbin JL, Vassal J. Myopathie chez une fille de 9 ans revélée à la naissance par une hypotonie musculaire generalisée. Arch Franc Péd 1962, 19:581-596.

[15] 15. Levy JA, Alegro MSC, Salum PNB, Brotto MW, Levy A. Distrofia muscular progressiva congênita tipo Fukuyama: Descrição de um caso. Arq Neuro-Psiquiat (São Paulo) 1987, 45:188-192.

[16] 16. McMenamin JB, Becker LE, Murphy EG. Congenital muscular dystrophy, a clinicopa-thologic report of 24 cases. J Pediatr 1982, 100:692-697.

[17] 17. Moerman P, Fryns JP, van Dijck H, Lauweryns JM. Congenital muscular dystrophy associated with letal arthrogryposis multiplex congenita. Virchows Arch (Pathol Anat) 1985, 408:343-348.

[18] 18. Nogen AG. Congenital muscle disease and abnormal findings on computerized tomography. Dev Med Child Neurol 1980, 22:658-663.

[19] 19. Oliveira ASB. Distrofia muscular congênita: estudo de 17 pacientes. Tese de Mestrado, Escola Paulista de Medicina. São Paulo, 1988.

[20] 20. Oliveira ASB, Schmidt B, Ferreira A Neto, Kiyomoto BH, Gabbai AA, Lima JGC. Distrofia muscular congênita: estudo histoquímico do músculo esquelético de 17 pacientes. Arq Neuro-Psiquiat (São Paulo) 1991, 49:185-191.

[21] 21. Otto HF, Lucking T. Congenitale muskeldystrophie: Licht und elektronnemikroskopische Befunde, Virchwos Arch (Path Anat) 1971, 352:324-329.

[22] 22. Pearson CM, Fowler WG. Hereditary non progressive muscular dystrophy inducing arthrogryposis syndrome. Brain 1963, 86:75-88.

[23] 23. Rotthauwe HW, Kowalewski S, Mumenthaler M. Kongenitale Muskeldystrophie. Z Kindern 1969, 106:131-162.

[24] 24. Serratrice G, Cros D, Pellissier JF, Gastaut JL, Pouget J. Distrophie musculaire congénitale. Rev Neurol (Paris) 1980, 136:445-472.

[25] 25. Spiller WG. General or localized hypotonia of the muscles in childhood (myotonia congenita). Med Bull Peoria 1904-1905, 17:342-346.

[26] 26. Turner JWA, Lees F. Congenital myopathy: a fifty year follow-up. Brain 1962, 85:733-740.

[27] 27. Vassella F, Mumenthaler M, Rossi E, Moser H, Wiesmann U. Die kongenitale Muskeldystrophie. Dtsch Z Nervenh 1967, 190:349-374.

[28] 28. Yoshioka M, Okuno T, Honda Y, Nakano Y. Central nervous system involvement in progressive muscular dystrophy. Arch Dis Childh 1980, 55:589-594.

[29] 29. Zellweger H, Afifi A, McCormick WF, Mergner W. Severe congenital muscular dystrophy. Am J Dis Child 1967, 114:591-602.

[30] 30. Zellweger H, Afifi A, McCormick WF, Mergner W. Benign congenital muscular dis-trophy: a special form of congenital hypotonia. Clin Pediatr 1967, 6:655-663.