Doença de Segawa: distonia progressiva sensível à L-dopa. Relato de caso

Araújo, Abelardo de Q-C.; Miranda, Silvia B. M.

doi:10.1590/S0004-282X1993000400019

Resumos

Tipo peculiar de distonia generalizada progressiva, de natureza hereditária, com início, principalmente, na infância e adolescência, a doença de Segawa (DS) distingue-se pela notável variação de intensidade sintomatológica no decorrer do dia e pela excelente resposta terapêutica à levodopa. Descrevemos, no presente relato caso de paciente com quadro clássico de DS, previamente diagnosticada como possuindo paraplegia espástica familial de Strümpell-Lorrain. O principal objetivo deste relato é o de alertar para a existência desta enfermidade, talvez a única distonia que pode ser tratada com sucesso mantido. Este fato justifica o uso rotineiro da prova terapêutica com levodopa em todas as distonias idiopáticas de início na infância ou adolescência.

distonia; doença de Segawa; L-dopa; paraplegia espástica de Strümpell-Lorrain

Segawa's disease (SD) is a hereditary progressive dystonia with marked diurnal fluctuation with onset in childhood or adolescence and a striking responsiveness to L-dopa. Here we describe a typical case of SD in a 28 year old woman whose disease begun at the age of 18 years. This patient had a second cousin with probable hereditary spastic paraplegia (Strümpell's familiar spastic paraplegia) who had no benifit on a recent L-dopa trial. Due to this family history our patient had been misdiagnosed as Strümpell's disease for more than 10 years. There was no other apparent case of SD in the family. Her father had an atypical gait but was otherwise normal. Her daughter had motor developmental delay due to hypotonia. Pes cavus was a common feature to the patient, her father and her cousin.

dystonia; Segawa's disease; L-dopa; Strumpell's familiar spastic paraplegia

Abelardo de Q-C. Araújo^I; Silvia B. M. Miranda^II

^INeurologista-pesquisador da Fundação Oswaldo Cruz (FIOCRUZ)

^IINeurologista Infantil

RESUMO

Tipo peculiar de distonia generalizada progressiva, de natureza hereditária, com início, principalmente, na infância e adolescência, a doença de Segawa (DS) distingue-se pela notável variação de intensidade sintomatológica no decorrer do dia e pela excelente resposta terapêutica à levodopa. Descrevemos, no presente relato caso de paciente com quadro clássico de DS, previamente diagnosticada como possuindo paraplegia espástica familial de Strümpell-Lorrain. O principal objetivo deste relato é o de alertar para a existência desta enfermidade, talvez a única distonia que pode ser tratada com sucesso mantido. Este fato justifica o uso rotineiro da prova terapêutica com levodopa em todas as distonias idiopáticas de início na infância ou adolescência.

Palavras-chave: distonia, doença de Segawa, L-dopa, paraplegia espástica de Strümpell-Lorrain.

SUMMARY

Segawa's disease (SD) is a hereditary progressive dystonia with marked diurnal fluctuation with onset in childhood or adolescence and a striking responsiveness to L-dopa. Here we describe a typical case of SD in a 28 year old woman whose disease begun at the age of 18 years. This patient had a second cousin with probable hereditary spastic paraplegia (Strümpell's familiar spastic paraplegia) who had no benifit on a recent L-dopa trial. Due to this family history our patient had been misdiagnosed as Strümpell's disease for more than 10 years. There was no other apparent case of SD in the family. Her father had an atypical gait but was otherwise normal. Her daughter had motor developmental delay due to hypotonia. Pes cavus was a common feature to the patient, her father and her cousin.

Key words: dystonia, Segawa's disease. L-dopa, Strumpell's familiar spastic paraplegia.

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

Aceite: 3-junho-1993.

Dr. Abelardo de Q-C. Araújo Hospital Evandro Chagas, FIOCRUZ - Avenida Brasil 4365 - 21040-361 Rio de Janeiro RJ - Brasil.

1. Fletcher NA, Holt IJ, Harding AE, Nygaard TG, Mallet J, Marsden CD. Tyrosine hydroxylase and L-dopa-responsive dystonia. J Neurol Neurosurg Psychiatry 1989, 52:112-114.
2. Harding AE. Inherited disorders of the central nervous system. Curr Opin Neurol Neurosurg 1990, 3:333-336.
3. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman LM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, Fahn S, Kramer PL. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of Dopa-responsive dystonia in a large kindred. Am J Hum Genet 1991, 48:121-128.
4. Lang AE. The dystonias: experimental, clinical and therapeutic aspects. Curr Opin Neurol Neurosurg 1991, 4:345-361.
5. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988, 50: 377-385.
6. Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990, 40:66-69.
7. Sawle GV, Leenders KL, Brooks DJ, Harwood G, Lees AJ, Frackowiak RS, Marsden CD. Dopa-responsive dystonia: [18F] Dopa positron emission tomography. Ann Neurol 1991, 30: 24-30.
8. Segawa M, Ohmi K, Itoh S, Aoayama M, Hayakawa H. Childhood basal ganglia disease with remarkable response to L-Dopa, «hereditary basal ganglia disease with marked diurnal fluctuations». Shinryo (Tokyo) 1972, 24:667-672.
9. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Nagatsu T, Narabayashi H, Yoshida M (eds). Parkinson's disease: from clinical aspects to molecular basis. Berlin: Springer-Verlag, 1991, p 167-177.

Doença de Segawa: distonia progressiva sensível à L-dopa. Relato de caso

Segawa's disease: L-dopa responsive progressive dystonia, a case report

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Nov 1993

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

[1] 1. Fletcher NA, Holt IJ, Harding AE, Nygaard TG, Mallet J, Marsden CD. Tyrosine hydroxylase and L-dopa-responsive dystonia. J Neurol Neurosurg Psychiatry 1989, 52:112-114.

[2] 2. Harding AE. Inherited disorders of the central nervous system. Curr Opin Neurol Neurosurg 1990, 3:333-336.

[3] 3. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman LM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, Fahn S, Kramer PL. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of Dopa-responsive dystonia in a large kindred. Am J Hum Genet 1991, 48:121-128.

[4] 4. Lang AE. The dystonias: experimental, clinical and therapeutic aspects. Curr Opin Neurol Neurosurg 1991, 4:345-361.

[5] 5. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988, 50: 377-385.

[6] 6. Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990, 40:66-69.

[7] 7. Sawle GV, Leenders KL, Brooks DJ, Harwood G, Lees AJ, Frackowiak RS, Marsden CD. Dopa-responsive dystonia: [18F] Dopa positron emission tomography. Ann Neurol 1991, 30: 24-30.

[8] 8. Segawa M, Ohmi K, Itoh S, Aoayama M, Hayakawa H. Childhood basal ganglia disease with remarkable response to L-Dopa, «hereditary basal ganglia disease with marked diurnal fluctuations». Shinryo (Tokyo) 1972, 24:667-672.

[9] 9. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Nagatsu T, Narabayashi H, Yoshida M (eds). Parkinson's disease: from clinical aspects to molecular basis. Berlin: Springer-Verlag, 1991, p 167-177.