Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

Nicholas E. Johnson, Eugenio Zapata Aldana, Nathalie Angeard, Tetsuo Ashizawa, Kiera N. Berggren, Chiara Marini-Bettolo, Tina Duong, Anne Berit Ekström, Valeria Sansone, Cuixia Tian, Leah Hellerstein, Craig Campbell

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) or in the pediatric age range (childhood-onset myotonic dystrophy). These children have a range of disabilities that reduce the lifespan and cause significant morbidity. Currently, there are no agreed upon recommendations for caring for these children.Recent findingsThe Myotonic Dystrophy Foundation recruited 11 international clinicians who are experienced with congenital and childhood-onset myotonic dystrophy to create consensus-based care recommendations. The experts used a 2-step methodology using elements of the single text procedure and nominal group technique. Completion of this process has led to the development of clinical care recommendations for this population.SummaryChildren with myotonic dystrophy often require monitoring and interventions to improve the lifespan and quality of life. The resulting recommendations are intended to standardize and improve the care of children with myotonic dystrophy.

Original languageEnglish (US)
Pages (from-to)443-454
Number of pages12
JournalNeurology: Clinical Practice
Issue number5
StatePublished - Oct 1 2019

ASJC Scopus subject areas

  • Clinical Neurology


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