Journal article
Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015
Muscle & nerve, Vol.66(2), pp.193-197
08/2022
DOI: 10.1002/mus.27532
PMCID: PMC9308714
PMID: 35312090
Abstract
With current and anticipated disease-modifying treatments including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009 a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) showed an average diagnosis age of five years among males with DMD born from 1/1/1982 to 12/31/2000. Initiatives were implemented by the Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow up study in a surveillance cohort born after 1/1/2000 to determine whether there has been an improvement in time to diagnosis.
We assessed the age of diagnosis among males with DMD born from 1/1/2000-12/31/2015 using data collected by six US MD STARnet surveillance sites (Colorado, Iowa, Western New York State, Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency counts and percentages for categorical variables; and means, medians, and standard deviations (SD) for continuous variables.
The mean [median] ages in years of diagnostic milestones were: first signs 2.7 [2.0], first creatine kinase (CK) 4.6 [4.6], DNA/muscle biopsy testing 4.9 [4.8], and time from first signs to diagnostic confirmation 2.2 [1.4].
The time interval between first signs of DMD and diagnosis remains unchanged at 2.2 years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids and participation in clinical trials. This article is protected by copyright. All rights reserved.
Details
- Title: Subtitle
- Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015
- Creators
- Shiny Thomas - New York State Department of Health, Albany, New YorkKristin M Conway - University of IowaOlushola Fapo - New York State Department of Health, Albany, New YorkNatalie Street - National Center on Birth Defects and Developmental DisabilitiesKatherine D Mathews - University of IowaJoshua Mann - University of Mississippi Medical CenterPaul A Romitti - University of IowaAida Soim - New York State Department of Health, Albany, New YorkChristina Westfield - New York State Department of Health, Albany, New YorkDeborah J Fox - New York State Department of Health, Albany, New YorkEmma Ciafaloni - University of RochesterMuscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.66(2), pp.193-197
- DOI
- 10.1002/mus.27532
- PMID
- 35312090
- PMCID
- PMC9308714
- NLM abbreviation
- Muscle Nerve
- eISSN
- 1097-4598
- Grant note
- US Centers for Disease Control and Prevention, Cooperative Agreement Numbers: DD001126, DD001119, DD001123, DD001116, DD001117, DD001108, DD001120, DD001054; National Institutes of Health, Grant Numbers: P50 NS053672 (NIAMS) and U24 NS-107181 (NINDS), Friedreich′s Ataxia Research Alliance; Italfarmaco; PTC; Sarepta; Pfizer; Retrotope; Reata; AMO (all to K.D.M.).
- Language
- English
- Electronic publication date
- 03/21/2022
- Date published
- 08/2022
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
- Record Identifier
- 9984230138802771
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