Clinical and imaging study of dystrophinopathy in twins: a comparative analysis of 7 pairs of twin patients
10.3760/cma.j.cn113694-20241125-00759
- VernacularTitle:抗肌萎缩蛋白病双胞胎患者的临床和影像学研究：7对双胞胎的对比分析
- Author:
Miao HAN
1
;
Qingyue YUAN
;
Chang LIU
;
Xu HAN
;
Yanyu LU
;
Zhiying XIE
;
Xinsheng HAN
;
Wei ZHANG
;
Zhaoxia WANG
;
Yun YUAN
Author Information
1. 北京大学第一医院神经内科，北京100034
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy, Duchenne;
Muscular dystrophy, Becker;
Dystrophinopathy;
Twins
- From:
Chinese Journal of Neurology
2025;58(8):854-861
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.
