Journal article
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
The Journal of pediatrics, Vol.155(3), pp.380-385
09/2009
DOI: 10.1016/j.jpeds.2009.02.007
PMCID: PMC5884059
PMID: 19394035
Abstract
To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history.
The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker muscular dystrophy boys to document the time course and steps taken to reach a definitive diagnosis.
Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years.
There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
Details
- Title: Subtitle
- Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
- Creators
- Emma Ciafaloni - Department of Neurology, University of Rochester, Rochester, NY, USA. Emma_ciafaloni@urmc.rochester.eduDeborah J FoxShree PandyaChristina P WestfieldSoman PuzhankaraPaul A RomittiKatherine D MathewsTimothy M Miller - University of ArizonaDennis J MatthewsLisa A MillerChristopher CunniffCharlotte M DruschelRichard T Moxley
- Resource Type
- Journal article
- Publication Details
- The Journal of pediatrics, Vol.155(3), pp.380-385
- DOI
- 10.1016/j.jpeds.2009.02.007
- PMID
- 19394035
- PMCID
- PMC5884059
- NLM abbreviation
- J Pediatr
- ISSN
- 0022-3476
- eISSN
- 1097-6833
- Publisher
- United States
- Grant note
- U01 DD000189 / NCBDD CDC HHS U01 DD000187 / NCBDD CDC HHS 5U01DD000187 / NCBDD CDC HHS
- Language
- English
- Date published
- 09/2009
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
- Record Identifier
- 9983995135902771
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