Kevin J Counterman1, Pat Furlong1, Richard T Wang2,3, Ann S Martin1. 1. Department of Research, Parent Project Muscular Dystrophy, Hackensack, New Jersey. 2. Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, California. 3. Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, Los Angeles, California.
Abstract
INTRODUCTION: In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD). METHODS: 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. RESULTS: 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). DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.
INTRODUCTION: In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD). METHODS: 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 DMDpatients without a known family history, using univariate and multivariable linear regression. RESULTS: 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). DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.
Authors: Pangaja Paramsothy; Yinding Wang; Bo Cai; Kristin M Conway; Nicholas E Johnson; Shree Pandya; Emma Ciafaloni; Katherine D Mathews; Paul A Romitti; James F Howard; Catharine Riley Journal: Neuromuscul Disord Date: 2022-04-30 Impact factor: 3.538
Authors: Alison M Barnard; Samuel L Riehl; Rebecca J Willcocks; Glenn A Walter; Amber M Angell; Krista Vandenborne Journal: J Neuromuscul Dis Date: 2020