Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M
Institut für Humangenetik der Universität, Bonn, Federal Republic of Germany.
J Neurol. 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207.
We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years. In 4 females the SMA clearly followed an autosomal recessive mode of inheritance. The disease was autosomal dominantly inherited in 2 patients; the other 6 were sporadic cases. Ages of onset of SMA ranged from 8 months to 29 years; all the females learned to walk, and 10 out of 12 are still ambulatory aged 30-60 years. Pregnancy and delivery were complicated in 10 out of 12 patients by premature labour (4), prolonged labour (3) and delayed postpartum recovery (6). Caesarean section was performed in 3 cases. No deleterious effects on fetal outcome could be detected. Exacerbation of muscle weakness after the second trimester of pregnancy was experienced by 8 females: 5 noticed a persistent deterioration of SMA; in 3 muscle weakness worsened temporarily during pregnancy and was followed by marked improvement in the puerperium. The psychological perceptions, in retrospect, of 10 females concerning their decision to have children were evaluated.
我们调查了12名近端脊髓性肌萎缩症（SMA）女性患者的妊娠过程及结局，以及妊娠对其肌肉无力的影响。这些女性年龄在18至32岁之间，共分娩17名婴儿。其中4名女性的SMA明显遵循常染色体隐性遗传模式。2例患者的疾病为常染色体显性遗传；另外6例为散发病例。SMA的发病年龄在8个月至29岁之间；所有女性都学会了走路，12名中有10名在30至60岁时仍能行走。12例患者中有10例妊娠和分娩出现并发症，包括早产（4例）、产程延长（3例）和产后恢复延迟（6例）。3例行剖宫产。未发现对胎儿结局有不良影响。8名女性在妊娠中期后出现肌肉无力加重：5名注意到SMA持续恶化；3名在妊娠期间肌肉无力暂时加重，产后明显改善。回顾性评估了10名女性对生育决定的心理认知。
