Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.
Muscle Nerve
; 61(1): 36-43, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31573675
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular de Duchenne
/
Diagnóstico Tardio
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Child
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Child, preschool
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Humans
/
Male
País como assunto:
America do norte
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article