Guarding the fading warriors: understanding and screening for Duchenne muscular dystrophy
10.3760/cma.j.cn113903-20240619-00449
- VernacularTitle:守护逐渐失去力量的勇者：杜氏肌营养不良症的认知与筛查之路
- Author:
Dongyang HONG
1
;
Zhilei ZHANG
;
Yun SUN
Author Information
1. 南京医科大学附属妇产医院（南京市妇幼保健院）遗传医学中心，南京 210004
- Keywords:
Duchenne muscular dystrophy;
Pathology;
Diagnosis;
Newborn screening
- From:
Chinese Journal of Perinatal Medicine
2024;27(10):876-880,F4
- CountryChina
- Language:Chinese
-
Abstract:
Duchenne muscular dystrophy (DMD) is a severe neuromuscular genetic disorder characterized by progressive muscle atrophy, with most patients succumbing to heart or respiratory failure around the age of 20. This article systematically reviews the discovery, pathological research, diagnosis, and development of newborn screening for DMD. Since the 19th century, pioneers such as Bell, Conte, Meryon, Duchenne, and Gowers have laid the foundation for understanding this disease through their discoveries and descriptions of DMD. In the 1980s, molecular biology research further elucidated the pathological mechanisms of DMD and established diagnostic methods. Since the 1970s, newborn screening for DMD has flourished, evolving through various stages including creatine kinase testing, muscle-type creatine kinase isoenzyme testing, and genetic screening. With ongoing research, early screening and diagnostic protocols for DMD have been continuously refined and gradually implemented in clinical practice.
