Treatment and genetic analysis of 437 cases of pseudohypertrophic muscular dystrophy
10.3969/j.issn.1002-0152.2025.05.002
- VernacularTitle:假肥大型肌营养不良437例治疗及遗传分析
- Author:
Siyi GAN
1
;
Yizhi YE
1
;
Hongmei LIAO
1
;
Liwen WU
1
Author Information
1. 湖南省儿童医院,中南大学湘雅医学院附属儿童医院神经内科(长沙 410000)
- Publication Type:Journal Article
- Keywords:
Duchenne muscular dystrophy;
Loss of ambulation;
Dystrophin gene;
Genotype;
Glucocorticoid therapy;
Rehabilitation training;
Cox proportional hazards model
- From:
Chinese Journal of Nervous and Mental Diseases
2025;51(5):268-273
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the optimal timing for glucocorticoid therapy in Duchenne muscular dystrophy(DMD)and analyze the relationship between loss of ambulation(LoA)and dystrophin(DMD)gene mutation types.Methods Clinical and genetic data of DMD patients diagnosed at Hunan Children's Hospital from May 2008 to May 2021 were retrospectively analyzed.Cox proportional hazards model was used to evaluate the impact of glucocorticoid initiation age,rehabilitation duration,and genotype on independent ambulation time.Results A total of 437 patients(aged 3-6 years)were enrolled,with muscle weakness being the primary presenting symptom.Genetic testing revealed deletions(289 cases,61.1％),point mutations(148 cases,31.3％),and duplications(36 cases,7.6％)in the DMD gene.Nonsense mutations predominated among point mutations(72/148,64.3％).Patients initiating glucocorticoids at 3-5 years showed significantly delayed LoA versus untreated patients[P<0.1,HR=0.47,median age 13(13-NA)].Patients with exon 43(Exon43)deletions experienced significantly earlier LoA than other genotypes[P<0.1,HR=3.04,median age 10(10-NA)].Rehabilitation>1 year significantly delayed LoA compared to no rehabilitation.Conclusion Optimal glucocorticoid initiation occurs at 3-5 years of age;rehabilitation exceeding 1 year prolongs independent ambulation;Exon43 deletions predict earlier LoA,informing clinical trial design.
