Delayed Diagnosis of Duchenne Muscular Dystrophy

Abstract

Research Article| January 01 2010 Delayed Diagnosis of Duchenne Muscular Dystrophy AAP Grand Rounds (2010) 23 (1): 3. https://doi.org/10.1542/gr.23-1-3 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Delayed Diagnosis of Duchenne Muscular Dystrophy. AAP Grand Rounds January 2010; 23 (1): 3. https://doi.org/10.1542/gr.23-1-3 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search nav search search input Search input auto suggest search filter All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: delayed diagnosis, duchenne's muscular dystrophy Source: Ciafaloni E, Fox DJ, Mathews KD, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009; 155(3): 380– 385; doi: https://doi.org/10.1016/j.jpeds.2009.02.007Google Scholar Investigators from New York, Iowa, Arizona, and Colorado collaborated in a study to assess delay in diagnosis of Duchenne muscular dystrophy (DMD) in patients without a known family history. Study patients were identified using a four-state registry system established by the Muscular Dystrophy Surveillance, Tracking and Research Network. Initially, records of 453 children diagnosed with either Duchenne or Becker muscular dystrophy, born since 1982, were reviewed. Patients classified as having definite or probable DMD, without a known family history prior to birth, were included in the analysis. Abstracted information from patient records included place of birth; residential history; growth data; symptoms; diagnostic tests; disease effects on pulmonary, cardiac and musculoskeletal systems; clinical treatment; and changes in mobility and function over time. The final data set included a cohort of 156 boys with definite or probable DMD. The initial signs and symptoms (SS) of possible DMD in study patients were noted by parents or caregivers at a mean age of 2.5 years. In 28% of these boys the first SS were noted before 1.5 years of age; 58% had SS prior to the age of 3 years. The most frequent SS were motor delay and muscle weakness. There was an average delay of over one year before boys with SS were taken to a health care professional for evaluation. The mean age at which concerns about the initial SS led to a clinical evaluation of the child was 3.6 years. The initial evaluation of the SS by a health care provider included a serum creatine kinase (CK) test in only 35% of cases. For the entire cohort of nonfamilial patients with DMD, the mean age for obtaining the first serum CK was 4.7 years. Between 1982 and 2000, the age at which care providers obtained the first CK in boys with nonfamilial DMD remained unchanged. Overall, there was a delay of about 2.5 years between the onset of DMD symptoms and the time of diagnosis. The authors conclude that there is a significant time lag between onset of SS and diagnosis of DMD and recommend that a CK test be a standard tool in the assessment of developmental delay in boys. DMD, the most common muscular dystrophy in children, is an X-linked recessive disorder occurring in 1 of every 3,500 male newborns,1 resulting from an absence of an essential transmembrane muscle protein. Thirty percent of cases arise from spontaneous mutation in the dystrophin gene. The diagnosis should be suspected in boys with motor difficulties. Global developmental delay does not exclude the diagnosis of DMD as cognitive, behavioral, and language abnormalities are found in one third of cases.2 An elevated serum CK level is a sensitive marker for early detection of DMD.... You do not currently have access to this content.