[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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000188:drug therapy; D000086:Acetazolamide / Q000627:therapeutic use*; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000188:drug therapy*; D013577:Syndrome
D000086:Acetazolamide
Sindrom Shvartsa--Dzhampela. Polozhitel'nyĭ terapevticheskiĭ éffekt diakarba.