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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,先证者的母系重祖父母均患此病,但轻重不同.后代患者受到不同影响而分轻、重两型.先证者在用抗组胺药异丁嗪(Trimeprazine)后症状显著改善.此药未曾用于治疗肌强直,只是因为先证者的祖母曾在用一种老的抗组胺制剂安他唑啉后症状缓解.例V.1(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
This article reports a family of five generations of autosomal dominant congenital myotonia, probands of the maternal grandparents are suffering from the disease, but the severity of different offspring affected by different sub-light and heavy type. The symptoms were significantly improved after the trimeprazine was administered by the antihistamine.This drug has not been used to treat myotonia simply because the progenitor’s grandmother used an antihistamine, an antihistamine, After symptom relief.V1 (proband), 22-month-old baby girl, her mother at 39 weeks of gestation due to high blood pressure labor delivery, 6 feet