Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet)

Details

• Alternative Title:
  J Neuromuscul Dis
• Personal Author:
  Andrews, Jennifer G. ; Lamb, Molly M. ; Conway, Kristin M. ; Street, Natalie ; Westfield, Christina ; Ciafaloni, Emma ; Matthews, Dennis ; Pandya, Shree
• Corporate Authors:
  MD STARnet
• Description:
  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) phenotypes are used to describe disease progression in affected individuals. However, considerable heterogeneity has been observed across and within these two phenotypes, suggesting a spectrum of severity rather than distinct conditions. Characterizing the phenotypes and subphenotypes aids researchers in the design of clinical studies and clinicians in providing anticipatory guidance to affected individuals and their families. Using data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), we used K-means cluster analysis to group phenotypically similar males with pediatric-onset dystrophinopathy. We identified four dystrophinopathy clusters: Classical BMD, Classical DMD, late ambulatory DMD, and severe DMD. The clusters that we identified align with both 'classical' and 'non-classical' dystrophinopathy described in the literature. Individuals with dystrophinopathies have heterogenous clinical presentations that cluster into phenotypically similar groups. Use of clinically-derived phenotyping may provide a clearer understanding of disease trajectories, reduce variability in study results, and prevent exclusion of certain cohorts from analysis. Findings from studying subphenotypes may ultimately improve our ability to predict disease progression.
• Subjects:
  Age Of Onset Child Child, Preschool Cluster Analysis Humans Male Muscular Dystrophy, Duchenne Phenotype
• Source:
  J Neuromuscul Dis. 9(1):171-178
• Pubmed ID:
  34776418
• Pubmed Central ID:
  PMC9059491
• Document Type:
  Journal Article
• Funding:
  U01 DD000830/DD/NCBDD CDC HHSUnited States/ ; U01 DD001247/DD/NCBDD CDC HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; U01 DD001248/DD/NCBDD CDC HHSUnited States/ ; U01 DD001250/DD/NCBDD CDC HHSUnited States/ ; U01 DD000835/DD/NCBDD CDC HHSUnited States/ ; U01 DD000836/DD/NCBDD CDC HHSUnited States/ ; U01 DD000831/DD/NCBDD CDC HHSUnited States/
• Volume:
  9
• Issue:
  1
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:97a8fbae874ce9a8ac6c9cab79c4688603f9447191caec02c401bf21f9ae5ecc
• Download URL:
  https://stacks.cdc.gov/view/cdc/116943/cdc_116943_DS1.pdf
• File Type:
  [PDF - 363.66 KB ]