英国的先天性肌强直性营养不良。I. 临床方面
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
作者信息
Harper P S
出版信息
Arch Dis Child. 1975 Jul;50(7):505-13. doi: 10.1136/adc.50.7.505.
Abstract
A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period.
摘要
在英国，对来自54个同胞家族的70例先天性肌强直性营养不良患者进行了一项临床和遗传学研究。本文分析了临床方面的情况，并证实存在一种临床上与迟发性肌强直性营养不良不同的综合征。其特征包括新生儿肌张力减退、运动和智力发育迟缓以及双侧面瘫。出生时马蹄内翻足的发生率很高，同时伴有羊水过多和孕期胎动减少，这些因素表明在许多情况下该疾病在产前就已发病。婴儿期后通常能长期存活，但同胞家族中众多新生儿死亡的情况表明存在未被识别的在新生儿期死亡的病例。
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