Doença de Charcot-Marie-Tooth: estudos eletromiográficos em 45 pacientes

Freitas, Marcos R.G.; Nascimento, Osvaldo J.M.; Nevares, Maria T.; Escada, Tânia M.

doi:10.1590/S0004-282X1995000400002

Resumos

Foi realizada eletroneuromiografia em 45 pacientes com doença de Charcot-Marie-Tooth (CMT). A classificação em tipo I e tipo II da doença de CMT foi feita com base na neurocondução motora do mediano e do ulnar. Assim 11 pacientes eram do tipo I e 34 eram do tipo II. No tipo I não houve relação entre a queda da VCN motora do ulnar e mediano com o quadro clínico da doença. Devido a ausência do potencial de ação sensitivo (PAS) do nervo sural em muitos casos, achamos impossível a classificação da doença pela neurocondução deste nervo. Muitos pacientes com doença de CMT II, tinham neurocondução normal, porém a amplitude do PAS do sural estava ausente ou reduzida, mostrando tratar-se realmente de doença do nervo periférico e não da ponta anterior da medula. Achamos que o estudo da neurocondução é o mais importante na classificação da doença de CMT.

doença de Charcot-Marie-Tooth; neurocondução; eletromiografia

The electrophysiological studies of 45 patients with Charcot-Marie-Tooth disease (CMT) are presented. The nerve conduction of the motor median and ulnar nerves permitted us to separate our patients in two types: type I (demyelinating) with motor nerve conduction (MNC) below 38 m/s (11 cases) and type II with MNC normal or above 38 m/s (34 cases). In type I there was no correlation between reduction in MNC and clinical severity. It was not possible to classificate the disease on the sural nerve sensory action potential (SAP). They were unobtainable in most cases. In many patients with CMT type II the MNC was normal. In the cases the sural SAP was absent or reduced. We concluded that the MNC study is the best useful test to classify CMT disease in type I and type II.

Charcot-Marie-Tooth disease; nerve conduction velocity; electromyography

Doença de Charcot-Marie-Tooth. estudos eletromiográficos em 45 pacientes

Charcot-Marie-Tooth disease: electromyographic studies in 45 cases

Marcos R.G. Freitas^I; Osvaldo J.M. Nascimento^II; Maria T. Nevares^III; Tânia M. Escada^III

^IProfessor Titular e Chefe do Serviço; Setor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro, Niterói

^IIProfessor Titular; Setor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro, Niterói

^IIIMédica Neurofisiologista.Setor de Doenças Neuromusculares do Serviço de Neurologia do Hospital Universitário Antônio Pedro, Niterói

RESUMO

Foi realizada eletroneuromiografia em 45 pacientes com doença de Charcot-Marie-Tooth (CMT). A classificação em tipo I e tipo II da doença de CMT foi feita com base na neurocondução motora do mediano e do ulnar. Assim 11 pacientes eram do tipo I e 34 eram do tipo II. No tipo I não houve relação entre a queda da VCN motora do ulnar e mediano com o quadro clínico da doença. Devido a ausência do potencial de ação sensitivo (PAS) do nervo sural em muitos casos, achamos impossível a classificação da doença pela neurocondução deste nervo. Muitos pacientes com doença de CMT II, tinham neurocondução normal, porém a amplitude do PAS do sural estava ausente ou reduzida, mostrando tratar-se realmente de doença do nervo periférico e não da ponta anterior da medula. Achamos que o estudo da neurocondução é o mais importante na classificação da doença de CMT.

Palavras-chave:doença de Charcot-Marie-Tooth, neurocondução, eletromiografia.

SUMMARY

The electrophysiological studies of 45 patients with Charcot-Marie-Tooth disease (CMT) are presented. The nerve conduction of the motor median and ulnar nerves permitted us to separate our patients in two types: type I (demyelinating) with motor nerve conduction (MNC) below 38 m/s (11 cases) and type II with MNC normal or above 38 m/s (34 cases). In type I there was no correlation between reduction in MNC and clinical severity. It was not possible to classificate the disease on the sural nerve sensory action potential (SAP). They were unobtainable in most cases. In many patients with CMT type II the MNC was normal. In the cases the sural SAP was absent or reduced. We concluded that the MNC study is the best useful test to classify CMT disease in type I and type II.

Key words: Charcot-Marie-Tooth disease, nerve conduction velocity, electromyography.

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Aceite: 30-março-1995.

Dr. Marcos R.G. de Freitas - Rua Gastão Ruch 16 apto 1402 - 24220-100 Niterói RJ - Brasil.

1. Amick LD, Lemmi H. Electromyographic studies in peroneal muscular atrophy. Arch Neurol 1963, 9:273-284.
2. Berciano J, Combarros O, Figols J, Calleja A, Cabello A, Silos-Coria F. Hereditary motor and sensory neuropathy type II: clinicopathological study of a family. Brain 1986, 109:897-914.
3. Bouche P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P. Peroneal muscular atrophy: I. Clinical and electrophysiological study. J. Neurol Sci 1983, 61:389-399.
4. Buchthal F, Behse F. Peroneal muscular atrophy and related disorders: I. Clinical manifestations as related to biopsy findings, nerve conductions and electromyography. Brain 1977, 100:41-66.
5. Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteynant plus tard les mains. Rev Med 1886, 6:97.
6. Davis CJF, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsies studies. J. Génét Hum 1978, 26:311-349.
7. Déjérine J, Sottas J. Sur la névrite interstitielle, hypertrophique et progressive de l'enfance. CR Soc Biol 1893, 5:63-96.
8. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons In Dyck PJ, Thomas PK, Lambert EH, Bunge RWB (eds). Peripheral neuropathy. Ed 2. Philadelphia: Saunders, 1984, p. 1600-1655.
9. Dyck PJ, Karnes JL, Lambert EH. Longitudional study of neuropathic deficits and nerve conductions abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 1989, 39:1302-1308.
10. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal atrophy: I. Neurologic, genetic and eletrophysiologic findings in hereditary polineuropathies. Arch Neurol 1968, 18: 603-618.
11. Dyck PJ, Lambert EH. Lower motor and primary sensory neurons diseases with peroneal muscular atrophy: II. Arch Neurol 1968, 18:619-625.
12. Dych PJ, Lambert EH, Mulder EW. Charcot-Marie disease: nerve conduction and clinical studies of a large kinship. Neurology 1963, 13:1-11.
13. Earl WC, Johnson EW. Motor nerve conduction velocity in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 1963, 44:247-252.
14. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: estudo clínico em 45 pacientes. Arq Neuropsiquiatr, 1995,53: 545-551.
15. Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957, 4:104-106.
16. Hagberg B, Westerberg B. Hereditary motor and sensory neuropathies in Swedish children. Acta Paediatr Scand 1983, 72:379-383.
17. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy: a report on 34 cases and review of the literature. J Neurol Sci 1980, 45:337-348.
18. Harding AE, Thomas PK, Autossomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1980, 43:669-678.
19. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980, 17:329-336.
20. Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. Ed 2. Philadelphia: F.A. Davis, 1989.
21. Ljapcev R, Kiteva G. Hereditary motor and sensory neuropathy type I, II and V: neurophysiological findings. J Neurol Sci 1990, 98 (Suppl):401.
22. Oh, SJ, Chang CW. Conduction block and dispersion in hereditary motor sensory neuropathy. Muscle Nerve 1987, 10:656-657.
23. Pinelli P, Pisano F, Ceriani F, Miscio G. Chronic progressive multineuropathy with proximal block (a mild variant of HMSN?). J Neurol Sci 1990, 98 (Suppl):402.
24. Roussy G, Levy G. Sept cases d'une maladie familiale particulière. Rev Neurol 1926, 1:427-450.
25. Sachs B. The peroneal form of leg-type of progressive muscular atrophy. Brain 1890, 12:447-459.
26. Salisachs P. Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. J Neurol Sci 1974, 23:25-31.
27. Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974, 37:68-75.

Datas de Publicação

Publicação nesta coleção
21 Dez 2010
Data do Fascículo
Set 1995

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

[1] 1. Amick LD, Lemmi H. Electromyographic studies in peroneal muscular atrophy. Arch Neurol 1963, 9:273-284.

[2] 2. Berciano J, Combarros O, Figols J, Calleja A, Cabello A, Silos-Coria F. Hereditary motor and sensory neuropathy type II: clinicopathological study of a family. Brain 1986, 109:897-914.

[3] 3. Bouche P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P. Peroneal muscular atrophy: I. Clinical and electrophysiological study. J. Neurol Sci 1983, 61:389-399.

[4] 4. Buchthal F, Behse F. Peroneal muscular atrophy and related disorders: I. Clinical manifestations as related to biopsy findings, nerve conductions and electromyography. Brain 1977, 100:41-66.

[5] 5. Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteynant plus tard les mains. Rev Med 1886, 6:97.

[6] 6. Davis CJF, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsies studies. J. Génét Hum 1978, 26:311-349.

[7] 7. Déjérine J, Sottas J. Sur la névrite interstitielle, hypertrophique et progressive de l'enfance. CR Soc Biol 1893, 5:63-96.

[8] 8. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons In Dyck PJ, Thomas PK, Lambert EH, Bunge RWB (eds). Peripheral neuropathy. Ed 2. Philadelphia: Saunders, 1984, p. 1600-1655.

[9] 9. Dyck PJ, Karnes JL, Lambert EH. Longitudional study of neuropathic deficits and nerve conductions abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 1989, 39:1302-1308.

[10] 10. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal atrophy: I. Neurologic, genetic and eletrophysiologic findings in hereditary polineuropathies. Arch Neurol 1968, 18: 603-618.

[11] 11. Dyck PJ, Lambert EH. Lower motor and primary sensory neurons diseases with peroneal muscular atrophy: II. Arch Neurol 1968, 18:619-625.

[12] 12. Dych PJ, Lambert EH, Mulder EW. Charcot-Marie disease: nerve conduction and clinical studies of a large kinship. Neurology 1963, 13:1-11.

[13] 13. Earl WC, Johnson EW. Motor nerve conduction velocity in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 1963, 44:247-252.

[14] 14. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: estudo clínico em 45 pacientes. Arq Neuropsiquiatr, 1995,53: 545-551.

[15] 15. Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957, 4:104-106.

[16] 16. Hagberg B, Westerberg B. Hereditary motor and sensory neuropathies in Swedish children. Acta Paediatr Scand 1983, 72:379-383.

[17] 17. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy: a report on 34 cases and review of the literature. J Neurol Sci 1980, 45:337-348.

[18] 18. Harding AE, Thomas PK, Autossomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1980, 43:669-678.

[19] 19. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980, 17:329-336.

[20] 20. Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. Ed 2. Philadelphia: F.A. Davis, 1989.

[21] 21. Ljapcev R, Kiteva G. Hereditary motor and sensory neuropathy type I, II and V: neurophysiological findings. J Neurol Sci 1990, 98 (Suppl):401.

[22] 22. Oh, SJ, Chang CW. Conduction block and dispersion in hereditary motor sensory neuropathy. Muscle Nerve 1987, 10:656-657.

[23] 23. Pinelli P, Pisano F, Ceriani F, Miscio G. Chronic progressive multineuropathy with proximal block (a mild variant of HMSN?). J Neurol Sci 1990, 98 (Suppl):402.

[24] 24. Roussy G, Levy G. Sept cases d'une maladie familiale particulière. Rev Neurol 1926, 1:427-450.

[25] 25. Sachs B. The peroneal form of leg-type of progressive muscular atrophy. Brain 1890, 12:447-459.

[26] 26. Salisachs P. Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. J Neurol Sci 1974, 23:25-31.

[27] 27. Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974, 37:68-75.