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Abstract：
Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle contractions or cold temperatures. Pregnancy has been reported to increase symptoms of myotonia; however, there is limited information in the literature regarding the possible effects of paramyotonia congenita on pregnancy and labour. We present a successful case of a 20-year-old primigravida with confirmed paramyotonia congenita and review the literature regarding paramyotonia congenita during pregnancy.
摘要：
先天性副肌强直是由SNC4A基因突变引起的一种罕见的常染色体显性遗传非营养不良性肌病,它编码骨骼肌中的电压门控钠通道。症状通常发生在儿童早期，其特征是肌强直，然后是弛缓性麻痹或虚弱，通常因反复的肌肉收缩或低温而加剧。据报道，怀孕会增加肌强直的症状；然而，关于先天性副肌强直对妊娠和分娩的可能影响的文献信息有限。我们介绍了一个成功的20岁primigravida病例，证实了先天性副肌强直，并回顾了有关怀孕期间先天性副肌强直的文献。
