TY - JOUR
T1 - Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
AU - Johnson, Nicholas E.
AU - Aldana, Eugenio Zapata
AU - Angeard, Nathalie
AU - Ashizawa, Tetsuo
AU - Berggren, Kiera N.
AU - Marini-Bettolo, Chiara
AU - Duong, Tina
AU - Ekström, Anne Berit
AU - Sansone, Valeria
AU - Tian, Cuixia
AU - Hellerstein, Leah
AU - Campbell, Craig
N1 - Funding Information:
The Article Processing Charge was funded by the Myotonic Dystrophy Foundation.
Publisher Copyright:
© 2020 American Academy of Neurology.
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
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U2 - 10.1212/CPJ.0000000000000646
DO - 10.1212/CPJ.0000000000000646
M3 - Review article
AN - SCOPUS:85079495546
SN - 2163-0402
VL - 9
SP - 443
EP - 454
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
IS - 5
ER -