Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings.

C Adams, L E Becker, E G Murphy
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引用次数: 7

Abstract

Thirteen cases of arthrogryposis multiplex congenita without evidence of spinal muscular atrophy, congenital muscular dystrophy, or structural myopathy were reviewed. Family history, consanguinity, pregnancy, delivery, number and severity of contractures, and outcome were evaluated. Laboratory investigations had been performed and a biopsy of muscle from an affected limb had been examined histochemically and by electron microscopy. Five biopsies showed fiber type 1 predominance and three had type 2 predominance. Patterns of fiber-type predominance may have resulted from altered neural influence leading to impaired maturation of type 1 or 2 motor units. Nine patients had been followed up for 3-8 years. Two were still not walking at age 8 years. For the 6 who were walking, the mean age at ambulation was 4.7 years. There was no deterioration in power. Muscle biopsy is recommended in arthrogryposis multiplex congenita. Identification of a probable neurogenic arthrogryposis multiplex congenita is important because the condition is not progressive and is apparently not transmitted genetically.

神经源性多发性先天性关节挛缩:临床和肌肉活检结果。
本文回顾了13例无脊髓性肌萎缩、先天性肌营养不良或结构性肌病的多发性先天性关节挛缩症。评估家族史、血亲关系、妊娠、分娩、挛缩次数和严重程度及结局。进行了实验室检查,并对患肢的肌肉进行了组织化学和电子显微镜检查。5例活检显示1型纤维为主,3例为2型纤维为主。纤维型优势的模式可能是由于神经影响的改变导致1型或2型运动单元成熟受损。9例患者随访3 ~ 8年。其中两个8岁时还不会走路。在行走的6人中,行走的平均年龄为4.7岁。权力没有恶化。多发性先天性关节挛缩时建议进行肌肉活检。识别可能的神经源性多发性先天性关节挛缩是很重要的,因为这种疾病不是进行性的,显然也不会遗传。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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