[Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)].

Q4 Medicine
Obstetrics And Gynecology Ultrasound Group Ultrasound Medical Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lei Zhu
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引用次数: 0

Abstract

Arthrogryposis multiplex congenita (AMC) is a clinical syndrome with complex etiology. It is a non-progressive syndrome characterized by joint deformity and stiffness, muscle atrophy, reduction of skin folds and subcutaneous tissue, and contracture of periarticular tissue, and can affect children in whom there are at least 2 or more joint contractures in multiple areas. AMC may be divided into amyoplasia, distal arthrogryposis, central nervous system and neuromuscular diseases which can be diagnosed by prenatal ultrasound and genetic testing, as well as by clinical evaluation, genetic examination, neuromuscular electrophysiological examination, imaging examination and special laboratory examination after birth. The goal of treatment is to improve the self-care ability of children, and the methods mainly include rehabilitation therapy, splint support and orthotic fixation, as well as orthopedic surgery. The Obstetrics and Gynecology Ultrasound Group of the Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of the Medical Genetics Branch of Chinese Medical Association, and the Genetic Disease Prevention and Control Group of Birth Defects Prevention and Control Professional Committee of Chinese Preventive Medicine Association have organized experts to develop this consensus through multiple rounds of discussions, with an aim to provide reference for clinicians to better understand and standardize the diagnosis and treatment of this disease, and promote the development of related industries.

【多发性先天性关节挛缩症临床诊断与治疗专家共识(2025年版)】。
多发性先天性关节挛缩症(AMC)是一种病因复杂的临床综合征。它是一种以关节畸形和僵硬、肌肉萎缩、皮肤褶皱和皮下组织减少、关节周围组织挛缩为特征的非进行性综合征,可发生在至少2个或更多的多部位关节挛缩的儿童身上。AMC可分为肌增生症、远端关节挛缩症、中枢神经系统和神经肌肉疾病,可通过产前超声和基因检测诊断,也可通过临床评价、遗传检查、神经肌肉电生理检查、影像学检查和出生后的特殊实验室检查进行诊断。治疗的目的是提高儿童的自理能力,治疗方法主要包括康复治疗、夹板支持和矫形固定以及骨科手术。中华医学会超声分会妇产科超声组、中华医学会医学遗传学分会临床遗传学组、中华预防医学会出生缺陷防治专业委员会遗传病防治组,组织专家经过多轮讨论,形成了这一共识。旨在为临床医生更好地了解和规范本病的诊治提供参考,促进相关产业的发展。
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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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