Cunningham A, Procopis P G
Department of Neurology, Children's Hospital, Camperdown, New South Wales, Australia.
Aust Paediatr J. 1988;24 Suppl 1:74-6.
Six cases of congenital myotonic dystrophy are described. Only two survived the neonatal period. There were seven neonatal deaths in the immediate families and six reported miscarriages. Of the two survivors one is moderately retarded and the other at 9 months is at the developmental level of 5-6 months. Facial diplegia and depressed deep tendon reflexes are clues to the presence of neonatal myotonic dystrophy and the diagnosis is confirmed by examining the mother who will show some of the features of the disorder. Infants may also present with non-specific respiratory problems, hypotonia and poor sucking.
本文描述了6例先天性肌强直性营养不良病例。仅2例存活至新生儿期。直系亲属中有7例新生儿死亡，另有6例报告流产。两名幸存者中，一名中度智力发育迟缓，另一名9个月大的婴儿发育水平相当于5至6个月。面瘫和深部腱反射减弱是新生儿期肌强直性营养不良的线索，通过检查母亲来确诊，母亲会表现出该疾病的一些特征。婴儿也可能出现非特异性呼吸问题、肌张力减退和吸吮无力。
