Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Mathew Stokes, Natasha Varughese, Susan Iannaccone, Diana Castro

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Introduction: Myotonic dystrophy type 1 (DM1) is caused by a CTG (cytosine-thymine-guanine) trinucleotide repeat expansion. Congenital DM (CDM) presents in the first month of life, whereas individuals with infantile and juvenile DM1 have later onset of symptoms. Methods: We performed a retrospective chart review of patients with childhood-onset DM1 seen at one of three locations in Dallas, Texas between 1990 and 2018. Symptoms, disease course, cognitive features, and family history were reviewed. Results: Seventy-four patients were included; CDM was diagnosed in 52 patients. There was maternal inheritance in 74% of patients. CTG repeat number ranged from 143 to 2300. Neuropsychiatric and cognitive deficits were common. Over half of the patients had GI disturbances, and orthopedic complications were common. Discussion: Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.

Original languageEnglish (US)
Pages (from-to)732-738
Number of pages7
JournalMuscle and Nerve
Issue number6
StatePublished - Dec 1 2019


  • congenital myotonic dystrophy
  • infantile juvenile myotonic dystrophy
  • myotonic dystrophy
  • myotonic dystrophy type 1
  • trinucleotide repeat

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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