[Schwartz-Jampel syndrome. Positive therapeutic effect of diacarb]

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.