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Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors
Author(s) -
Counterman Kevin J.,
Furlong Pat,
Wang Richard T.,
Martin Ann S.
Publication year - 2020
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26720
Subject(s) - duchenne muscular dystrophy , medicine , pediatrics , genotype , family history , univariate analysis , muscular dystrophy , newborn screening , age of onset , demography , multivariate analysis , disease , genetics , biology , sociology , gene
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.