©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Nov 8, 2015; 4(4): 66-80
Published online Nov 8, 2015. doi: 10.5409/wjcp.v4.i4.66
Published online Nov 8, 2015. doi: 10.5409/wjcp.v4.i4.66
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions
Genevieve Ho, Michael Cardamone, Michelle Farrar, Discipline of Paediatrics, School of Women’s and Children’s Health, UNSW Medicine, the University of New South Wales, Sydney NSW 2031, Australia
Michael Cardamone, Michelle Farrar, Department of Neurology, Sydney Children’s Hospital, Randwick NSW 2031, Australia
Author contributions: Ho G contributed to literature searches and initial drafting and revision of the manuscript; Farrar M contributed to initial outline and revisions of the manuscript; Cardamone M contributed to revising the manuscript.
Conflict-of-interest statement: Ms Ho, Dr. Cardamone and Dr. Farrar report no disclosures or conflict of interests.
Correspondence to: Dr. Michelle Farrar, MBBS, FRACP, PhD, Department of Neurology, Sydney Children’s Hospital, High St, Randwick NSW 2031, Australia. m.farrar@unsw.edu.au
Telephone: +61-2-93821549 Fax: +61-2-93821580
Received: May 20, 2015
Peer-review started: May 20, 2015
First decision: August 4, 2015
Revised: August 7, 2015
Accepted: September 25, 2015
Article in press: September 28, 2015
Published online: November 8, 2015
Processing time: 174 Days and 2.7 Hours
Peer-review started: May 20, 2015
First decision: August 4, 2015
Revised: August 7, 2015
Accepted: September 25, 2015
Article in press: September 28, 2015
Published online: November 8, 2015
Processing time: 174 Days and 2.7 Hours
Core Tip
Core tip: Type 1 myotonic dystrophy is an often undetected neuromuscular disease in paediatric patients with variable clinical manifestations and burden of disease. We review the current understandings of disease pathogenesis, symptoms and management in congenital and childhood myotonic dystrophy with a particular focus on hypersomnolence and sleep disorders. Future directions should target standardised care and regular surveillance, understanding pathophysiology and new treatment strategies.