Delays in diagnosis of Duchenne muscular dystrophy: an evaluation of genotypic and sociodemographic factors

Counterman KJ, Furlong P, Wang RT, Martin AS. Delays in diagnosis of Duchenne muscular dystrophy: an evaluation of genotypic and sociodemographic factors. Muscle & nerve 2019

Abstract

INTRODUCTION: This study investigates associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD).

METHODS: Data was collected from The Duchenne Registry from 2007 to 2019, and was 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-white patients and patients from high poverty neighborhoods were older at diagnosis (P = <0.01). Increased year of birth was associated with decreasing age of diagnosis (P = <0.001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = 0.005).

DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients. This article is protected by copyright. All rights reserved.

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