Biópsia do nervo sural na distrofia muscular miotônica

Freitas, Gabriel R. de; Freitas, Marcos R. G. de; Nascimento, Osvaldo J. M.

doi:10.1590/S0004-282X1996000100003

Resumos

Foram estudados 12 pacientes com distrofia muscular miotônica com o objetivo de verificar o comprometimento do sistema nervoso periférico. Todos apresentavam os sinais e sintomas principais da doença. Nenhum tinha outras causas que pudessem justificar uma polineuropatia. Todos foram submetidos a biópsia do nervo sural com contagem de fibras mielínicas e realização de histograma. Dois não apresentavam histograma bimodal. Os pacientes mostraram redução do número de fibras mielínicas. Concluímos que a polineuropatia pode fazer parte do quadro clínico polimorfo da distrofia muscular miotônica.

distrofia muscular miotônica; sistema nervoso periférico; polineuropatia; nervo sural; biópsia

Twelve patients with myotonic dystrophy were studied to look for the involvement of the peripheral nervous system in this disease. All of them showed the main signs and symptoms of the disease. They did not have another causes to justify a polineuropathy. They were submitted to sural nerve biopsy with counting of myelinated fibers and histogram. Patients showed a reduction in the number of myelinated fibers and in two patients the histogram was unimodal. We concluded that polineuropathy may be another multisystemic manifestation of myotonic dystrophy.

myotonic dystrophy; peripheral nervous system; polineuropathy; sural nerve; biopsy

Gabriel R. de Freitas^I; Marcos R. G. de Freitas^II; Osvaldo J. M. Nascimento^III

^IServiço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense (UFF): Interno

^IIServiço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense (UFF): Professor Titular, Chefe do Serviço

^IIIServiço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense (UFF): Professor Titular

RESUMO

Foram estudados 12 pacientes com distrofia muscular miotônica com o objetivo de verificar o comprometimento do sistema nervoso periférico. Todos apresentavam os sinais e sintomas principais da doença. Nenhum tinha outras causas que pudessem justificar uma polineuropatia. Todos foram submetidos a biópsia do nervo sural com contagem de fibras mielínicas e realização de histograma. Dois não apresentavam histograma bimodal. Os pacientes mostraram redução do número de fibras mielínicas. Concluímos que a polineuropatia pode fazer parte do quadro clínico polimorfo da distrofia muscular miotônica.

Palavras-chave: distrofia muscular miotônica, sistema nervoso periférico, polineuropatia, nervo sural, biópsia.

ABSTRACT

Twelve patients with myotonic dystrophy were studied to look for the involvement of the peripheral nervous system in this disease. All of them showed the main signs and symptoms of the disease. They did not have another causes to justify a polineuropathy. They were submitted to sural nerve biopsy with counting of myelinated fibers and histogram. Patients showed a reduction in the number of myelinated fibers and in two patients the histogram was unimodal. We concluded that polineuropathy may be another multisystemic manifestation of myotonic dystrophy.

Key words:myotonic dystrophy, peripheral nervous system, polineuropathy, sural nerve, biopsy.

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Agradecimentos - Gostaríamos de agradecer a colaboração da Professora Maria Eugênia Duarte pelo empréstimo do equipamento necessário à contagem de fibras, a Guilherme Moraes de Azeredo e Marcela Rodriguez de Freitas pela análise e entrada dos dados no computador.

Aceite: 1-setembro-1995.

Serviço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense (UFF)

Dr. Gabriel Rodriguez de Freitas - Rua Gastão Ruch, 16/1402 - 24220-100 Niterói RJ - Brasil

1. Adams RD, Victor M. Principles of neurology. Ed 4. New York: McGraw-Hill, 1989: 1117-1132. (The muscular dystrophies).
2. Brook JD, McCurrach ME, Harley HG et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3'end of a transcript encoding a protein kinase family member. Cell 1992, 68:799-808.
3. Brunner HG, Spaans F, Smeets HJM, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology 1991, 41:80-84.
4. Cros D, Harnden P, Pouget J, Pellisier JF, Gastaut JL, Serratrice G. Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 1988, 23:470-476.
5. Dyck PJ, Giannini C, Lais A. Pathological alterations of nerves. In Dyck PJ, Thomas PK (eds). Peripheral neuropathy. Ed 3. Philadelphia: Saunders, 1993; 514-595.
6. Hawley RJ, Gottdiener JS, Gay JA, Engel WK. Families with myotonic dystrophy with and without cardiac involvement. Arch Intern Med 1983, 143:2134-2135.
7. Jamal GA, Weir AI, Hansen S, Ballantyne JP. Myotonic dystrophy: a reassessment by conventional and more recently introduced neurophysiological techniques. Brain 1986, 109:1279-1296.
8. Jaspert A, Fahsold R, Grehl H, Claus D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 1995, 242:99-104.
9. Jozefowicz RF, Griggs RC. Myotonic dystrophy. Neurol Clin 1988, 6:455-472.
10. La Spada AR, Baulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological diseases. Ann Neurol 1994, 36:814-822.
11. Mastrogiacomo I, Pagani E, Novelli G, Angelini C, Menegazzo E, Bonanni G, Dallapiccola B. Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation. J Endocrinol Invest 1994, 17:381-383.
12. Mondelli M, Rossi A, Malandrini A, Delia Porta P, Guazzi GC. Axonal motor and sensory neuropathy in myotonic dystrophy. Acta Neurol Scand 1993, 88:141-148.
13. Pollock M, Dyck PJ. Peripheral nerve morphometry in myotonic dystrophy. Arch Neurol 1976, 33:33-39.
14. Von Giesen HJ, Stoll G, Koch MC, Benecke R. Mixed axonal-demyelinating polyneuropathy as predominant manifestation of myotonic dystrophy. Muscle Nerve 1994, 17:701-703.
15. Turnpenny P, Clark C, Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Gen 1994, 31:300-305.
16. Yoshida MM, Krishnamurthy S, Wattchow DA, Furness JB, Schuffler MD. Megacolon in myotonic dystrophy caused by a degenerative neuropathy of the myenteric plexus. Gastroenterology 1988, 95:820-827.

Biópsia do nervo sural na distrofia muscular miotônica

Sural nerve biopsy in myotonic dystrophy

Datas de Publicação

Publicação nesta coleção
07 Dez 2010
Data do Fascículo
Mar 1996

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

[1] 1. Adams RD, Victor M. Principles of neurology. Ed 4. New York: McGraw-Hill, 1989: 1117-1132. (The muscular dystrophies).

[2] 2. Brook JD, McCurrach ME, Harley HG et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3'end of a transcript encoding a protein kinase family member. Cell 1992, 68:799-808.

[3] 3. Brunner HG, Spaans F, Smeets HJM, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology 1991, 41:80-84.

[4] 4. Cros D, Harnden P, Pouget J, Pellisier JF, Gastaut JL, Serratrice G. Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 1988, 23:470-476.

[5] 5. Dyck PJ, Giannini C, Lais A. Pathological alterations of nerves. In Dyck PJ, Thomas PK (eds). Peripheral neuropathy. Ed 3. Philadelphia: Saunders, 1993; 514-595.

[6] 6. Hawley RJ, Gottdiener JS, Gay JA, Engel WK. Families with myotonic dystrophy with and without cardiac involvement. Arch Intern Med 1983, 143:2134-2135.

[7] 7. Jamal GA, Weir AI, Hansen S, Ballantyne JP. Myotonic dystrophy: a reassessment by conventional and more recently introduced neurophysiological techniques. Brain 1986, 109:1279-1296.

[8] 8. Jaspert A, Fahsold R, Grehl H, Claus D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 1995, 242:99-104.

[9] 9. Jozefowicz RF, Griggs RC. Myotonic dystrophy. Neurol Clin 1988, 6:455-472.

[10] 10. La Spada AR, Baulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological diseases. Ann Neurol 1994, 36:814-822.

[11] 11. Mastrogiacomo I, Pagani E, Novelli G, Angelini C, Menegazzo E, Bonanni G, Dallapiccola B. Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation. J Endocrinol Invest 1994, 17:381-383.

[12] 12. Mondelli M, Rossi A, Malandrini A, Delia Porta P, Guazzi GC. Axonal motor and sensory neuropathy in myotonic dystrophy. Acta Neurol Scand 1993, 88:141-148.

[13] 13. Pollock M, Dyck PJ. Peripheral nerve morphometry in myotonic dystrophy. Arch Neurol 1976, 33:33-39.

[14] 14. Von Giesen HJ, Stoll G, Koch MC, Benecke R. Mixed axonal-demyelinating polyneuropathy as predominant manifestation of myotonic dystrophy. Muscle Nerve 1994, 17:701-703.

[15] 15. Turnpenny P, Clark C, Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Gen 1994, 31:300-305.

[16] 16. Yoshida MM, Krishnamurthy S, Wattchow DA, Furness JB, Schuffler MD. Megacolon in myotonic dystrophy caused by a degenerative neuropathy of the myenteric plexus. Gastroenterology 1988, 95:820-827.