Sarnat H B, O'Connor T, Byrne P A
Arch Neurol. 1976 Jul;33(7):459-65. doi: 10.1001/archneur.1976.00500070001001.
The article describes pregnancies and labors of five women with myotonic muscular dystrophy and their four severely involved infants, and reviews the pertinent literature. Three of the four neonatal cases died by 3 weeks of age of respiratory failure or aspiration; the fourth infant is now 4 months old and has respiratory and swallowing difficulties. The symptoms of myotonic dystrophy worsen during pregnancy. A high rate of fetal loss occurs due to spontaneous abortion, prematurity, and neonatal involvement with the disease. Prolonged labor has been described as a consistent complication, but the evidence does not justify this conclusion. Although many neonates with myotonic dystrophy are asymptomatic, severely affected newborns have a recognizable disorder unrelated to the severity of the maternal disease. The most common clinical manifestations in the neonate are arthrogryposis involving predominantly the lower extremilies, generalized hypotonia and weakness, and pharyngeal weakness. Less constant features include polyhydramnios, facial diplegia, diaphragmatic paralysis, respiratory failure, decreased motility of the gastrointestinal tract, congenital cataracts, and electrocardiographic abnormalities.
本文描述了5例强直性肌营养不良女性的妊娠及分娩情况以及她们4例受累严重的婴儿，并对相关文献进行了综述。4例新生儿病例中有3例在3周龄时死于呼吸衰竭或误吸；第4例婴儿现4个月大，有呼吸和吞咽困难。强直性肌营养不良的症状在孕期会加重。由于自然流产、早产以及新生儿患该病，胎儿丢失率很高。产程延长一直被描述为一种持续存在的并发症，但现有证据并不支持这一结论。虽然许多患强直性肌营养不良的新生儿无症状，但受累严重的新生儿有可识别的病症，且与母亲疾病的严重程度无关。新生儿最常见的临床表现是主要累及下肢的关节挛缩、全身肌张力减退和肌无力以及咽部肌无力。较少见的特征包括羊水过多、面瘫、膈肌麻痹、呼吸衰竭、胃肠道蠕动减弱、先天性白内障以及心电图异常。
