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. 2020 Jan;61(1):36-43.
doi: 10.1002/mus.26720. Epub 2019 Nov 6.

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

Kevin J Counterman  1 , Pat Furlong  1 , Richard T Wang  2   3 , Ann S Martin  1
Affiliations

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

Kevin J Counterman et al. Muscle Nerve. 2020 Jan.

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.

Keywords: Duchenne Registry; Duchenne muscular dystrophy; age of diagnosis; genetics; public health; social determinants of health.

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References

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