JOURNAL ARTICLE

Time to Diagnosis of Duchenne Muscular Dystrophy Patients With or Without Development Delay.

  • Published In: Journal of Child Neurology, 2026, v. 41, n. 1. P. 54 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Albuquerque, Marco Antônio Veloso de; Lima, Karla Danielle; Kok, Fernando; Zanoteli, Edmar 3 of 3

Abstract

This article focuses on the age and timing of diagnosis in boys with Duchenne muscular dystrophy (DMD), particularly comparing those presenting with developmental delays versus typical motor symptoms. In a retrospective study of 127 boys followed at a Brazilian tertiary center, the average age at diagnosis was 6.9 years, with a mean delay of 3.6 years from symptom onset. Boys with early developmental delays (motor, speech, or cognitive) were identified at a younger age (mean 4.8 years) than those with classic motor symptoms, despite similar diagnostic delays. The findings emphasize the importance of including DMD in the differential diagnosis of boys with developmental delays and recommend routine screening with serum creatine kinase (CK) levels to facilitate earlier diagnosis and intervention.

Additional Information

  • Source:Journal of Child Neurology. 2026/01, Vol. 41, Issue 1, p54
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2026
  • ISSN:0883-0738
  • DOI:10.1177/08830738251346285
  • Accession Number:188922772
  • Copyright Statement:Copyright of Journal of Child Neurology is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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