Doença de Charcot-Marie-Tooth: estudo clínico em 45 pacientes

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

doi:10.1590/S0004-282X1995000400001

Resumos

A doença de Charcot-Marie-Tooth (CMT) é uma das moléstias mais frequentes do sistema nervoso periférico e ocupa o primeiro lugar dentre as afecções neuromusculares hereditárias. Estudamos 45 pacientes com doença de CMT atendidos no Hospital Universitário Antônio Pedro da Universidade Federal Fluminense. Foram classificados de acordo com a neurocondução em: tipo I (desmielinizante), 11 casos; e tipo II (anoxal), 34 casos. Vinte e três tinham herança autossômica dominante, 7 casos eram do tipo autossômico recessivo e 15 eram esporádicos. A maioria teve o início dos sintomas na 1ª ou 2ª décadas. Todos tiveram paresia distal dos membros inferiores. Nos membros superiores a paresia foi vista em 38,2%. A amiotrofia distal ocorreu em 80% nos membros inferiores e em 50% nos superiores. A arreflexia patelar e aquiliana foi elevada. Abolição dos reflexos profundos nos membros superiores ocorreu em 28%. As alterações sensitivas limitaram-se a discreta hipoestesia nos membros inferiores. Em 7 enfermos encontramos hipertrofia dos troncos nervosos. Os pés cavos e a escoliose foram vistos em 21 casos e 7 casos respectivamente. Tremor nas mãos foi encontrado em 6 pacientes. Outros sinais mais raros, como oligofrenia e atrofia óptica, foram vistos excepcionalmente. A evolução da doença foi quase sempre benigna. Somente 7 casos evoluíram rapidamente.

doença de Charcot-Marie-Tooth; quadro clínico; hereditariedade

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.

Charcot-Marie-Tooth disease; clinical features; inheritance

Doença de Charcot-Marie-Tooth. Estudo clínico em 45 pacientes

Charcot-Marie-Tooth disease: clinical features in 45 cases

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

^IProfessor Titular e Chefe do Serviço; Setor de Doenças Neuromusculares do Serviço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense

^IIProfessor Titular; Setor de Doenças Neuromusculares do Serviço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense

^IIIMonitor; Setor de Doenças Neuromusculares do Serviço de Neurologia da Faculdade de Medicina da Universidade Federal Fluminense

RESUMO

A doença de Charcot-Marie-Tooth (CMT) é uma das moléstias mais frequentes do sistema nervoso periférico e ocupa o primeiro lugar dentre as afecções neuromusculares hereditárias. Estudamos 45 pacientes com doença de CMT atendidos no Hospital Universitário Antônio Pedro da Universidade Federal Fluminense. Foram classificados de acordo com a neurocondução em: tipo I (desmielinizante), 11 casos; e tipo II (anoxal), 34 casos. Vinte e três tinham herança autossômica dominante, 7 casos eram do tipo autossômico recessivo e 15 eram esporádicos. A maioria teve o início dos sintomas na 1ª ou 2ª décadas. Todos tiveram paresia distal dos membros inferiores. Nos membros superiores a paresia foi vista em 38,2%. A amiotrofia distal ocorreu em 80% nos membros inferiores e em 50% nos superiores. A arreflexia patelar e aquiliana foi elevada. Abolição dos reflexos profundos nos membros superiores ocorreu em 28%. As alterações sensitivas limitaram-se a discreta hipoestesia nos membros inferiores. Em 7 enfermos encontramos hipertrofia dos troncos nervosos. Os pés cavos e a escoliose foram vistos em 21 casos e 7 casos respectivamente. Tremor nas mãos foi encontrado em 6 pacientes. Outros sinais mais raros, como oligofrenia e atrofia óptica, foram vistos excepcionalmente. A evolução da doença foi quase sempre benigna. Somente 7 casos evoluíram rapidamente.

Palavras-chave: doença de Charcot-Marie-Tooth, quadro clínico, hereditariedade.

SUMMARY

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.

Key-words: Charcot-Marie-Tooth disease, clinical features, inheritance.

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Aceite 29-março-1995.

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

1. Bady B, Clauplannaz G, Brunon AM. La marche en ballerine, symptome révélateur d'une maladie de Charcot-Marie à forme hypertrophique avec transmission dominante. Rev Neurol 1982, 138:827-838.
2. Berciano J. Combarros O, Figols J, Calejja J, 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. Boveri P. De la névrite hypertrophique familiale (type Pierre Marie). Sem Med 1910, 30:145-150
5. Brooks AP, Emery AEH. A family study of Charcot-Marie-Tooth disease. J Med Gen 1982, 19:88-93.
6. Brust JCM, Lovelace RE, Devi S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand 1978; 58 (suppl):l-42.
7. 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.
8. Charcot JM, Marie P. Sur une forme particullière d'atrophie musculaire progressive souvent familiale debutant par les pieds et les jambes et atteynant plus tard les mains. Rev Med 1886, 6:97.
9. Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987, 75:9-12.
10. Davis CJF, Bradley WG, Madrid. The peroneal muscular atrophy syndrome: clinical genetic, electrophysiological and nerve biopsies studies. J Génét Hum 1978, 26:311-349.
11. 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.
12. Dyck PJ, Change P, Lebo R, Carney JR. Hereditary motor and sensory neuropathy. In Dyck PJ, Thomas PK (eds) Peripheral neuropathy. Ed 3. Philadelphia: Saunders, p.1094-1136.
13. Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromusc Dis 1991, 1:19-29.
14. Freitas MRG. Doença de Charcot-Marie-Tooth: estudo de 45 pacientes. Tese. Rio de Janeiro, 1993.
15. Freitas MRG, Nascimento OJM, Chimelli L, Marques HJA. Polineuropatia: estudo de 407 casos atendidos no Hospital Universitário Antonio Pedro de 1978 a 1889. Rev Bras Neurol 1990. 26:165-169.
16. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: epidemiologia, genética e fisiopatogenia. Rev Bras Neurol 1995, 31:11-21.
17. Gabreels-Festen AAWM, Gabreels FJM, Jennekens FGI, Joosten EMG, Jansen-Van Kempen TW. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology 1992, 42:1755-1761.
18. Hagberg B, Westerberg B. Hereditary motor and sensory neuropathies in Swedish children. Acta Paediatr Scand 1983, 72:379-383.
19. Hagberg B, Westerberg B, Hagne I, Sellden U. Hereditary motor and sensory neuropathies in Swedish children: III. De and remielinating type in 10 sporadic cases. Acta paediatr Scand 1983, 72:537-544.
20. Hamida MB. Genetic neuropathies: Charcot-Marie-Tooth disease In Assai JPH, Liniger C. (eds). Peripheral neuropathies 1988: What is significantly new? Vol 21 Geneva: Livrarie Press, Springer-Verlag. 1988, p.572-578.
21. Hamida MGB, Letaief F, Hamida CB, Samoud S. Les atrophies péronières in Tunisie: étude de 70 observations purês ou associées à d'outres affections hérédodégénératives. J Neurol Sci 1981, 50:335-356.
22. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.
23. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980, 17:329-336.
24. Harding AE, Thomas PK. Genetically determined neuropathies. In Asbury AK and Gilliatt RW (eds) Peripheral nerve disorders. London: Butterworths, 1984, p. 205-242.
25. Lupski JR, Garcia CA, Parry GJ, Patel PI. Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiologic and genetic aspets. In Appel SH (ed). Current Neurology St Louis: Mosby Year Book, 1991, Vol 11, p.1-25.
26. McLeod JG, Low PA, Morgan JA. Charcot-Marie-Tooth disease with Leber optic atrophy. Neurology 1978, 28:179-184.
27. Ouvrier RA, McLeod JG, Pollard JD. The historical perspective: overview of pediatric aspects of the neuropathies: In Peripheral neuropathy in children. New York: Raven Press, 1990 p.1-12.
28. Ouvrier RA, McLeod JG, Pollard JD. The peroneal muscular atrophy syndrome. In Peripheral neuropathy in children. New York: Raven Press, 1990, p 63-103.
29. Rosemberg RN, Chutorian A. Familial opticoacustic nerve degeneration and polyneuropathy. Neurology 1967, 17:827-832.
30. Sakashita Y, Sakato S, Komai K, Takamori M. Hereditary motor and sensory neuropathy with calf muscle enlargement. J Neurol Sci 1992, 113:118-122.
31 Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 1974, 6:98-118.
32. Thomas PK. Peripheral neuropathies and neoplasic disorders. Curr Opinion Neurol Neurosurg 1991, 4:667-682.

Datas de Publicação

Publicação nesta coleção
20 Dez 2010
Data do Fascículo
Set 1995

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

[1] 1. Bady B, Clauplannaz G, Brunon AM. La marche en ballerine, symptome révélateur d'une maladie de Charcot-Marie à forme hypertrophique avec transmission dominante. Rev Neurol 1982, 138:827-838.

[2] 2. Berciano J. Combarros O, Figols J, Calejja J, 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. Boveri P. De la névrite hypertrophique familiale (type Pierre Marie). Sem Med 1910, 30:145-150

[5] 5. Brooks AP, Emery AEH. A family study of Charcot-Marie-Tooth disease. J Med Gen 1982, 19:88-93.

[6] 6. Brust JCM, Lovelace RE, Devi S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand 1978; 58 (suppl):l-42.

[7] 7. 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.

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

[9] 9. Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987, 75:9-12.

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

[11] 11. 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.

[12] 12. Dyck PJ, Change P, Lebo R, Carney JR. Hereditary motor and sensory neuropathy. In Dyck PJ, Thomas PK (eds) Peripheral neuropathy. Ed 3. Philadelphia: Saunders, p.1094-1136.

[13] 13. Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromusc Dis 1991, 1:19-29.

[14] 14. Freitas MRG. Doença de Charcot-Marie-Tooth: estudo de 45 pacientes. Tese. Rio de Janeiro, 1993.

[15] 15. Freitas MRG, Nascimento OJM, Chimelli L, Marques HJA. Polineuropatia: estudo de 407 casos atendidos no Hospital Universitário Antonio Pedro de 1978 a 1889. Rev Bras Neurol 1990. 26:165-169.

[16] 16. Freitas MRG, Nascimento OJM, Freitas GR. Doença de Charcot-Marie-Tooth: epidemiologia, genética e fisiopatogenia. Rev Bras Neurol 1995, 31:11-21.

[17] 17. Gabreels-Festen AAWM, Gabreels FJM, Jennekens FGI, Joosten EMG, Jansen-Van Kempen TW. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology 1992, 42:1755-1761.

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

[19] 19. Hagberg B, Westerberg B, Hagne I, Sellden U. Hereditary motor and sensory neuropathies in Swedish children: III. De and remielinating type in 10 sporadic cases. Acta paediatr Scand 1983, 72:537-544.

[20] 20. Hamida MB. Genetic neuropathies: Charcot-Marie-Tooth disease In Assai JPH, Liniger C. (eds). Peripheral neuropathies 1988: What is significantly new? Vol 21 Geneva: Livrarie Press, Springer-Verlag. 1988, p.572-578.

[21] 21. Hamida MGB, Letaief F, Hamida CB, Samoud S. Les atrophies péronières in Tunisie: étude de 70 observations purês ou associées à d'outres affections hérédodégénératives. J Neurol Sci 1981, 50:335-356.

[22] 22. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.

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

[24] 24. Harding AE, Thomas PK. Genetically determined neuropathies. In Asbury AK and Gilliatt RW (eds) Peripheral nerve disorders. London: Butterworths, 1984, p. 205-242.

[25] 25. Lupski JR, Garcia CA, Parry GJ, Patel PI. Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiologic and genetic aspets. In Appel SH (ed). Current Neurology St Louis: Mosby Year Book, 1991, Vol 11, p.1-25.

[26] 26. McLeod JG, Low PA, Morgan JA. Charcot-Marie-Tooth disease with Leber optic atrophy. Neurology 1978, 28:179-184.

[27] 27. Ouvrier RA, McLeod JG, Pollard JD. The historical perspective: overview of pediatric aspects of the neuropathies: In Peripheral neuropathy in children. New York: Raven Press, 1990 p.1-12.

[28] 28. Ouvrier RA, McLeod JG, Pollard JD. The peroneal muscular atrophy syndrome. In Peripheral neuropathy in children. New York: Raven Press, 1990, p 63-103.

[29] 29. Rosemberg RN, Chutorian A. Familial opticoacustic nerve degeneration and polyneuropathy. Neurology 1967, 17:827-832.

[30] 30. Sakashita Y, Sakato S, Komai K, Takamori M. Hereditary motor and sensory neuropathy with calf muscle enlargement. J Neurol Sci 1992, 113:118-122.

[31] 31 Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 1974, 6:98-118.

[32] 32. Thomas PK. Peripheral neuropathies and neoplasic disorders. Curr Opinion Neurol Neurosurg 1991, 4:667-682.