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

Lookup NU author(s): Dr Chiara Marini Bettolo



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2020 American Academy of Neurology. Purpose of review: Myotonic 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 findings: The 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. Summary: Children 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.

Publication metadata

Author(s): Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekstrom A-B, Sansone V, Tian C, Hellerstein L, Campbell C

Publication type: Review

Publication status: Published

Journal: Neurology: Clinical Practice

Year: 2019

Volume: 9

Issue: 5

Pages: 443-454

Print publication date: 01/10/2019

Online publication date: 24/04/2019

Acceptance date: 04/03/2019

ISSN (print): 2163-0402

ISSN (electronic): 2163-0933

Publisher: Lippincott Williams and Wilkins


DOI: 10.1212/CPJ.0000000000000646