Pusponegoro H D, Zacharia J, Passat J
Department of Child Health, Medical Faculty University of Indonesia, Cipto Mangunkusumo Hospital, Jakarata.
Paediatr Indones. 1991 May-Jun;31(5-6):170-8.
This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations.
本报告描述了8名兄弟姐妹中的5名，他们是我院诊断出的首批先天性肌强直病例。父母是近亲。父母及其他家庭成员均无肌强直。受影响的兄弟姐妹有4名男孩和1名女孩，均表现出非常典型的肌强直，尤其是在长时间休息后，通过持续活动可缓解。他们身材肌肉发达或比例健壮。诊断基于家族史、叩击性肌强直的临床发现、握力性肌强直、明显的肌肉肥大，并经肌电图检查证实有肌强直放电。由于存在一些功能障碍，这些患者先接受苯妥英治疗，后用硫酸奎宁治疗，效果良好。这些患者的相关父母很可能是相同有害隐性基因的杂合子，因为他们有共同的祖先。在这种遗传性疾病中，婚姻咨询的作用很重要，以防止这种遗传性疾病在下一代中发生。
