A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.


Objective: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.

Methods: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed.

Results: We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce.

Conclusions: The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Arrhythmias, Cardiac / epidemiology
  • Arrhythmias, Cardiac / etiology
  • Arrhythmias, Cardiac / physiopathology*
  • Child
  • Child, Preschool
  • Evidence-Based Medicine
  • Female
  • Foot Deformities / epidemiology
  • Foot Deformities / etiology
  • France / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscle Weakness / epidemiology
  • Muscle Weakness / etiology
  • Muscle Weakness / physiopathology*
  • Myotonic Dystrophy / complications
  • Myotonic Dystrophy / epidemiology
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / physiopathology*
  • Registries
  • Respiratory Insufficiency / epidemiology
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / physiopathology*
  • Severity of Illness Index
  • Trinucleotide Repeat Expansion