Marík I, Schejbalová A, Kuklík M, Kraus J
Ortopedická klinika 2. lékarské fakulty KU, Praha.
Acta Chir Orthop Traumatol Cech. 1992;59(1):11-8.
In part I the authors deal with the present possibilities of the diagnostics and therapy of arthrogryposis multiplex congenita. They proceed from the classification after Hall of 1982 (classification of the so-called distal arthrogryposis) and of 1983 where congenital contractures are divided into three groups according to associated system anomalies. On the basis of their own experience they deal in details with distal arthrogryposis - amyoplasia which differs from spinal degenerative diseases by 3 symptoms: 1. it does not deteriorate after the birth, 2. nerves are not affected, 3. intelligence is normal. Differential diagnostics is carried out on the basis of clinical-genetic examination. Dermatoglyphic examination contributes to an early diagnosis mainly in distal arthrogryposis. The seriousness of neurogenic or myogenetic affection is determined by EMG examination. The authors compare therapeutical literary aspects with their own methods of treatment. The evaluation of diagnostic and therapeutical results is presented in part II of the communication. Key words: arthrogryposis multiplex congenita, amyoplasia, distal arhtrogryposis, electromyography, dermatoglyphes, surgical treatment.
在第一部分中，作者探讨了先天性多发性关节挛缩症的诊断和治疗的当前可能性。他们依据1982年霍尔的分类（所谓远端关节挛缩症的分类）以及1983年的分类展开论述，在1983年的分类中，先天性挛缩根据相关系统异常被分为三组。基于自身经验，他们详细探讨了远端关节挛缩症——肢体肌肉发育不全，该病症与脊髓退行性疾病在三个症状方面存在差异：1. 出生后病情不会恶化；2. 神经未受影响；3. 智力正常。鉴别诊断基于临床遗传学检查进行。皮纹检查主要对早期诊断远端关节挛缩症有帮助。神经源性或肌源性病变的严重程度通过肌电图检查来确定。作者将治疗方面的文献内容与他们自己的治疗方法进行了比较。诊断和治疗结果的评估在该论文的第二部分呈现。关键词：先天性多发性关节挛缩症、肢体肌肉发育不全、远端关节挛缩症、肌电图、皮纹、外科治疗
