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本文报告一家族五个世代都患常染色体显性遗传的先天性肌强直,先证者在用抗组胺药异丁嗪(Trimeprazine)后症状显著改善。此药并不曾用于治疗肌强直,只是因为先证者的祖母过去在用一种老的抗组胺制剂盐酸安他唑啉(Antazoline)后症状缓解。病例报告:例Ⅵ(先证者),22个月女婴;其母在妊娠39周时因高血压引产分娩,6足月时才发现患儿打喷嚏后眼闭合延缓和拿玩具时手指僵硬,检查:有特征性肌肉肥大,步态僵硬,清晨时肢体僵硬较明显。例Ⅳ.5,先证者之母,26岁;4岁时因在咳嗽和打喷嚏时有肋间肌痉挛,以及握笔写字困
This article reports the congenital myotonia of a family with autosomal dominant inheritance for five generations, with probands significantly improving their symptoms after using the antihistamine trimeprazine. The drug was not used to treat muscle rigidity simply because the progenitor’s grandmother used to relieve symptoms after using Antazoline, an old antihistamine. Case report: case VI (proband), 22-month-old baby girl; her mother at 39 weeks of gestation due to high blood pressure labor delivery, 6 full-month when they were found sneezing in children with delayed eye closure and fingers stiff with toys , Check: a characteristic muscle hypertrophy, stiff gait, limb stiffness early in the more obvious. Example IV.5, mother of proband, 26 years old; 4 years old due to intercostal muscle spasms during coughing and sneezing, and writing pen