Expert consensus on the genetic counseling for Dystrophinopathies
10.3760/cma.j.cn511374-20240122-00062
- VernacularTitle:DMD相关肌营养不良病的遗传咨询专家共识
- Author:
Xiaoliang LIU
1
;
Yanyan ZHAO
;
Hua WANG
;
Jesse Ling LI
;
Lingqian WU
;
Yanping LU
;
Qingxian CHANG
Author Information
1. 中国医科大学附属盛京医院临床遗传科，沈阳 110004
- Keywords:
Duchenne muscular dystrophy;
Becker muscular dystrophy;
DMD-associated dilated cardiomyopathy;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2024;41(6):651-660
- CountryChina
- Language:Chinese
-
Abstract:
Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.
