TY - JOUR
T1 - Delayed Diagnosis in Duchenne Muscular Dystrophy
T2 - Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
AU - Ciafaloni, Emma
AU - Fox, Deborah J.
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
AU - Druschel, Charlotte M.
AU - Moxley, Richard T.
N1 - Funding Information:
The study cohort of 156 patients with DMD without a family history of DMD comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) supported by the Centers for Disease Control and Prevention (CDC). MD STARnet identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy (DBMD) born since 1982 and residing within Arizona, Colorado, Iowa, or Western New York State. The MD STARnet study population and surveillance methodology have been published previously. 21
PY - 2009/9
Y1 - 2009/9
N2 - 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.
AB - 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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U2 - 10.1016/j.jpeds.2009.02.007
DO - 10.1016/j.jpeds.2009.02.007
M3 - Article
C2 - 19394035
AN - SCOPUS:69249230932
SN - 0022-3476
VL - 155
SP - 380
EP - 385
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 3
ER -