Department of Research, Parent Project Muscular Dystrophy, Hackensack, New Jersey.
Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, California.
Muscle Nerve. 2020 Jan;61(1):36-43. doi: 10.1002/mus.26720. Epub 2019 Nov 6.
In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD).
Data were collected from the Duchenne Registry from 2007 to 2019, and then used to assess the impact genotype, race/ethnicity, neighborhood poverty levels, and other sociodemographics factors have on the age of diagnosis of DMD patients without a known family history, using univariate and multivariable linear regression.
The mean age of diagnosis was 4.43 years. Non-Caucasian patients and patients from high-poverty neighborhoods were older at diagnosis (P < .01). Increased year of birth was associated with decreasing age of diagnosis (P < .001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = .005).
After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.
本研究旨在探讨基因型和社会人口学因素与杜氏肌营养不良症（DMD）诊断年龄之间的关系。
数据来自 2007 年至 2019 年的 Duchenne 登记处，然后用于评估基因型、种族/民族、邻里贫困水平等社会人口统计学因素对无家族史的 DMD 患者的诊断年龄的影响，采用单变量和多变量线性回归。
诊断的平均年龄为 4.43 岁。非白种人和来自高贫困社区的患者的诊断年龄较大（P <.01）。出生年份的增加与诊断年龄的降低相关（P <.001）。特定的基因突变亚型与症状发作和诊断的较晚年龄相关（P =.005）。
在调整基因型和出生年份后，传统高危患者的平均诊断年龄明显延迟。
