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家族性先天性肌无力的临床与仪器检查研究

[Clinical and instrumental study of familial congenital myasthenia].

作者信息

Bouquet F, Ventura A, Panizza G F

出版信息

Riv Patol Nerv Ment. 1978 May-Jun;99(3):141-9.

PMID:752906
Abstract

Congenital familial myasthenia occurred in two male brothers, born from non affected mother. The diagnosis was based on anamnestic and clinical data, on electromyographic features, and on the effect of specific therapy. The differential diagnosis and the classification of congenital familial myasthenia are discussed. This type of disease represent 1% of all cases of myasthenia, but--excluding the "transferred" myasthenia to the newborn by affected mother--the percentage raises to 3--4%. The possibility of identifying two distinct formes of familial myasthenia is emphasized, the first with "early onset" where the symptoms become evident before two years of age, the second "late onset" clinically evident later in life seems doubtful that the two forms of the disease might be due to the same underlying pathological condition.

摘要

先天性家族性肌无力发生在两名男性兄弟身上,他们的母亲未受影响。诊断基于既往史和临床资料、肌电图特征以及特异性治疗的效果。本文讨论了先天性家族性肌无力的鉴别诊断和分类。这类疾病占所有肌无力病例的1%,但排除受影响母亲“传递”给新生儿的肌无力情况后,这一比例升至3% - 4%。本文强调了识别两种不同类型家族性肌无力的可能性,第一种为“早发型”,症状在两岁前明显;第二种为“晚发型”,临床症状在生命后期才明显。这两种疾病形式是否由相同的潜在病理状况引起尚不确定。

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