Araújo A de Q, Miranda S B
Neurologista-pesquisador da Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brasil.
Arq Neuropsiquiatr. 1993 Dec;51(4):532-6. doi: 10.1590/s0004-282x1993000400019.
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 (Strumpell's familiar spastic paraplegia) who had no benefit on a recent L-dopa trial. Due to this family history our patient had been misdiagnosed as Strumpell'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.
Segawa病（SD）是一种遗传性进行性肌张力障碍，具有明显的日波动现象，起病于儿童期或青春期，对左旋多巴有显著反应。在此，我们描述一名28岁女性的典型SD病例，其疾病始于18岁。该患者有一个二级表亲可能患有遗传性痉挛性截瘫（Strumpell家族性痉挛性截瘫），近期左旋多巴试验对其无效。由于这一家族病史，我们的患者被误诊为Strumpell病长达10多年。家族中无其他明显的SD病例。她的父亲步态异常，但其他方面正常。她的女儿因肌张力低下出现运动发育迟缓。高弓足是该患者、她的父亲和她的表亲的共同特征。
