Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Emma Ciafaloni, Deborah J. Fox, Shree Pandya, Christina P. Westfield, Soman Puzhankara, Paul A. Romitti, Katherine D. Mathews, Timothy M. Miller, Dennis J. Matthews, Lisa A. Miller, Christopher M Cunniff, Charlotte M. Druschel, Richard T. Moxley

Research output: Contribution to journalArticle

110 Citations (Scopus)

Abstract

Objective: To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history. Study design: 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. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)380-385
Number of pages6
JournalThe Journal of Pediatrics
Volume155
Issue number3
DOIs
StatePublished - Sep 2009

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Duchenne Muscular Dystrophy
Muscular Dystrophies
Delayed Diagnosis
Research
Creatine Kinase
Population Surveillance
Birth Order
Genetic Counseling
Signs and Symptoms
Medical Records
Primary Health Care
Adrenal Cortex Hormones

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Delayed Diagnosis in Duchenne Muscular Dystrophy : Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). / Ciafaloni, Emma; Fox, Deborah J.; Pandya, Shree; Westfield, Christina P.; Puzhankara, Soman; Romitti, Paul A.; Mathews, Katherine D.; Miller, Timothy M.; Matthews, Dennis J.; Miller, Lisa A.; Cunniff, Christopher M; Druschel, Charlotte M.; Moxley, Richard T.

In: The Journal of Pediatrics, Vol. 155, No. 3, 09.2009, p. 380-385.

Research output: Contribution to journalArticle

Ciafaloni, E, Fox, DJ, Pandya, S, Westfield, CP, Puzhankara, S, Romitti, PA, Mathews, KD, Miller, TM, Matthews, DJ, Miller, LA, Cunniff, CM, Druschel, CM & Moxley, RT 2009, 'Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)', The Journal of Pediatrics, vol. 155, no. 3, pp. 380-385. https://doi.org/10.1016/j.jpeds.2009.02.007
Ciafaloni, Emma ; Fox, Deborah J. ; Pandya, Shree ; Westfield, Christina P. ; Puzhankara, Soman ; Romitti, Paul A. ; Mathews, Katherine D. ; Miller, Timothy M. ; Matthews, Dennis J. ; Miller, Lisa A. ; Cunniff, Christopher M ; Druschel, Charlotte M. ; Moxley, Richard T. / Delayed Diagnosis in Duchenne Muscular Dystrophy : Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). In: The Journal of Pediatrics. 2009 ; Vol. 155, No. 3. pp. 380-385.
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abstract = "Objective: To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history. Study design: 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. Results: 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. Conclusions: 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.",
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AU - Pandya, Shree

AU - Westfield, Christina P.

AU - Puzhankara, Soman

AU - Romitti, Paul A.

AU - Mathews, Katherine D.

AU - Miller, Timothy M.

AU - Matthews, Dennis J.

AU - Miller, Lisa A.

AU - Cunniff, Christopher M

AU - Druschel, Charlotte M.

AU - Moxley, Richard T.

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