Aver'ianov Iu N
Zh Nevropatol Psikhiatr Im S S Korsakova. 1978;78(10):1498-1502.
For the first time in Soviet literature a case of Schwartz--Jampel syndrome is described. In a 4 year old girl, besides skeletal abnormalities there were also muscular disturbances typical for this disease: myotonia, a syndrome of constant muscular contraction (rigidity) and expressed cramps. The paper contains a concise literary review concerning the Schwartz--Jampel syndrome and indicates absence of effective treatment. The author succeeded in attainment of a distinct improvement by administering diacarb, a drug previously not used in this disease.
苏联文学中首次描述了施瓦茨 - 扬佩尔综合征病例。一名4岁女孩，除骨骼异常外，还出现了该病典型的肌肉紊乱症状：肌强直、持续性肌肉收缩综合征（僵硬）和明显的痉挛。本文包含了关于施瓦茨 - 扬佩尔综合征的简要文献综述，并指出尚无有效治疗方法。作者通过使用双氯非那胺（一种此前未用于该病的药物）成功实现了明显改善。
