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

anp Arquivos de Neuro-Psiquiatria Arq. Neuro-Psiquiatr. 0004-282X 1678-4227 Academia Brasileira de Neurologia - ABNEURO São Paulo, SP, Brazil 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. Doença de Segawa: distonia progressiva sensível à L-dopa. Relato de caso Segawa's disease: L-dopa responsive progressive dystonia, a case report Abelardo de Q-C. AraújoI; Silvia B. M. MirandaII 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. 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