The spectrum of myopathies in the city of São Paulo.

Q4 Medicine Neurologia-Neurocirugia Psiquiatria Pub Date : 1977-01-01
J A Levy, A Topczewski, L I de Mendonça, M Zatz, R B Levisky
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引用次数: 0

Abstract

A fifteen-year study was made in the neurologic clinic of the school of medicine, of the City of Sao Paulo; 466 patients were examined clinically and with EMG determination of enzymes, biopsies and genetic counsel. The diagnosis varied much and some important findings at heart level, with overload, were discovered in some cases. In the cases in which the diagnosis was not confirmed; CPK was determined, which was increased in all cases, but was not so with GOT, GPT and LDH. A family pattern was found in the Duchenne Becker distrophy, limb-girdle syndrome, fascioscapulohumeral and oculopharyngeal. The biopsy exposed 15 of the 18 polymyositis cases. Genetic counsel was given to heterozygotes with PMD genes of great risk of presentation. An acute stage, detected by CPK dosage, was foreseen for adolescent heterozygotes.

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圣保罗市的肌病谱。
圣保罗市医学院的神经病学诊所进行了一项为期15年的研究;466例患者进行了临床检查,肌电图测定酶,活检和遗传咨询。诊断差异很大,在一些病例中发现了一些心脏水平的重要发现,并伴有超载。未确诊的病例;测定CPK,所有病例CPK均升高,而GOT、GPT和LDH均无升高。Duchenne - Becker症候群、肢带症候群、筋膜肩肱部及眼咽部呈家族型。活检显示18例多发性肌炎病例中有15例。遗传建议给予具有高表现风险的PMD基因的杂合子。通过CPK剂量检测,可以预见青春期杂合子的急性期。
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来源期刊
Neurologia-Neurocirugia Psiquiatria
Neurologia-Neurocirugia Psiquiatria Psychology-Clinical Psychology
CiteScore
0.10
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