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杜兴氏型肌营养不良症:问题、早期诊断与早期治疗(作者译)

[Duchenne-type muscular dystrophy: problems, early diagnosis, early treatment (author's transl)].

作者信息

Beckmann R

出版信息

Klin Padiatr. 1978 Nov;190(6):531-9.

PMID:362050
Abstract

The aetiology and pathogenesis of the Duchenne-type muscular dystrophy (pseudohypertrophic muscular dystrophy) are still largely unknown. The possibilities of treating the disease are rather limited. Treatment is the more successful, the earlier diagnosis was possible, and the earlier treatment is initiated. The CK-Screening Test is an important aid for early diagnosis. The CK-Screening Test is also valuable for genetic consultation and advice, because it helps to identify women who are conductors or carriers of the disease. Current hypotheses on aetiology and pathogenesis are mentioned. Progress made in the fields of biochemistry, including enzyme histochemistry, and electron microscopy, raise hopes of finding more efficient therapeutic possibilities in the future. The many interests of patients with muscular diseases are being looked after by the European Alliance of Muscular Dystrophy Associations (EAMDA). Thirteen European associations are members of this organisation, including the German association "Bekämpfung der Muskelkrankheiten e.V." The number of sponsoring members of the EAMDA is at present about 300,000. 3 international congresses have already been held on the problems of muscular diseases. The fourth congress is scheduled to take place in Montreal in 1978.

摘要

杜兴氏型肌营养不良症(假肥大型肌营养不良症)的病因和发病机制在很大程度上仍不清楚。治疗这种疾病的可能性相当有限。诊断越早且治疗开始得越早,治疗就越成功。肌酸激酶筛查试验是早期诊断的重要辅助手段。肌酸激酶筛查试验对于遗传咨询和建议也很有价值,因为它有助于识别疾病的传导者或携带者女性。文中提到了当前关于病因和发病机制的假说。生物化学领域(包括酶组织化学)和电子显微镜方面取得的进展,让人们对未来找到更有效的治疗方法充满希望。欧洲肌营养不良症协会联盟(EAMDA)关注着肌肉疾病患者的诸多权益。该组织有13个欧洲协会成员,其中包括德国的“德国肌肉疾病防治协会”。EAMDA目前的赞助成员数量约为30万。已经就肌肉疾病问题召开了3次国际大会。第四届大会定于1978年在蒙特利尔举行。

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