MYOTONIA CONGENITA (THOMSENS DISEASE) - EARLY DIAGNOSIS IN INFANCY

被引：6

作者：

HAREL, S ^{[1
]}

CHUI, LA ^{[1
]}

SHAPIRA, Y ^{[1
]}

机构：

[1] UNIV SO CALIF,LOS ANGELES CTY MED CTR,DEPT NEUROL,NEUROMUSCULAR UNIT,LOS ANGELES,CA 90033

来源：

ACTA PAEDIATRICA SCANDINAVICA | 1979年 / 68卷 / 02期

关键词：

congenital stridor; Myotonia; Thomsen's disease;

D O I：

10.1111/j.1651-2227.1979.tb04993.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Abstract. A family with myotonia congenita. (Thomsen's disease) is reported in which the father and his two offspring are affected. The course was characterized by the early onset of clinical manifestations in both the father and his two children. In one child, a clinical and electrical diagnosis of the disease was made as early as two weeks of age. Early manifestations were breathing difficulty and eye closure myotonia. The importance of early recognition of the disorder is emphasized. Copyright © 1979, Wiley Blackwell. All rights reserved

引用

页码：225 / 227

页数：3

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