中国肢带型肌营养不良携带者筛查专家共识《中国肢带型肌营养不良携带者筛查专家共识》制订组

Expert consensus on carrier screening for limb-girdle muscular dystrophy in China

摘要:

肢带型肌营养不良（LGMD）是一组以近端肌（骨盆带肌和肩胛带肌）肌无力为主要表现的遗传性肌病，有常染色体显性、常染色体隐性和X连锁3种遗传方式。LGMD具有高度遗传和临床异质性，极易漏诊误诊。LGMD至今仍缺乏特效的治疗药物，其预后较差，给家庭及社会均带来巨大负担。为指导LGMD携带者高风险人群的筛查，并提供生育相关遗传咨询，在综合考虑国内外相关研究和指南基础上，特制定适合我国现状的LGMD携带者筛查的中国专家共识，以期进一步促进LGMD的规范化防控。

Abstract:

Limb-girdle muscular dystrophy （LGMD） is a group of hereditary myopathies characterized by weakness of proximal muscles （pelvic and scapular muscles） and has three inheritance patterns of autosomal dominant inheritance， autosomal recessive inheritance， and X-linked inheritance. LGMD is highly inheritable and has high clinical heterogeneity， which often leads to missed diagnosis and misdiagnosis. At present， there is still a lack of effective drugs for LGMD， leading to poor prognosis and bringing huge burdens to the family and society. In order to guide the screening for high-risk LGMD carriers and provide related genetic counseling， the Chinese expert consensus on LGMD carrier screening suitable for the situations in China has been formulated based on related studies and guidelines in China and globally， so as to further promote the standardized prevention and control of LGMD. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 61-67］