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一种伴有主要关节多处挛缩的家族性进行性肌营养不良症

[A familial form of progressive muscular dystrophy with multiple contractures of the major joints].

作者信息

Iadgarov I S, Badalian L O, Temin P A, Arkhipov B A, Bulaeva N V, Amanova Z A

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1991;91(9):89-93.

PMID:1664624
Abstract

The paper treats of a case of progressive myodystrophy coupled with multiple contractures of the large joints. In an Uzbek family placed under observation and living in the Uzbek SSR, the disease was revealed in 3 members of the family (in mother and two children). Contractures of the large joints grew on parallel with the myodystrophic process. The pattern of myodystrophy seen in the family was characterized by a number of unusual clinical features and by pronounced clinical pleomorphism. The differences of the clinical manifestations within the family lay in variability of the debut, localization and intensity of the contractures, and in the rate of the myodystrophy course.

摘要

本文论述了一例进行性肌营养不良合并大关节多处挛缩的病例。在乌兹别克苏维埃社会主义共和国接受观察的一个乌兹别克家庭中,该疾病在3名家庭成员(母亲和两个孩子)身上被发现。大关节挛缩与肌营养不良过程同时出现。该家庭中所见的肌营养不良模式具有一些不寻常的临床特征和明显的临床多形性。家族内临床表现的差异在于挛缩的首发、定位和强度的变异性,以及肌营养不良病程的速率。

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