Duchenne muscular dystrophy

Journal of Paediatrics and Child Health
Eppie M Yiu, Andrew J Kornberg

Abstract

Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non-invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies.

References

Mar 1, 1990·International Journal of Cardiology·G NigroR J Bain
Oct 1, 1981·Developmental Medicine and Child Neurology·D Leibowitz, V Dubowitz
Jul 17, 1999·Neuromuscular Disorders : NMD·E M HoogerwaardM de Visser
Dec 26, 2001·American Journal of Respiratory and Critical Care Medicine·M F PhillipsP M Calverley
Mar 8, 2002·Archives of Disease in Childhood. Fetal and Neonatal Edition·E P ParsonsD M Bradley
Feb 5, 2003·Neuromuscular Disorders : NMD·M A NolanH M Johnston
Apr 24, 2004·The Cochrane Database of Systematic Reviews·A Y ManzurA Swan
Sep 10, 2005·Journal of Paediatrics and Child Health·Sadasivam SureshDavid Gus M Cooper
Oct 26, 2005·American Journal of Physical Medicine & Rehabilitation·Birol BalabanTerri Carry
Dec 3, 2005·Pediatrics·UNKNOWN American Academy of Pediatrics Section on Cardiology and Cardiac Surgery
Jul 28, 2006·The European Respiratory Journal·M ToussaintP Soudon
Dec 13, 2006·Pediatric Neurology·Nicolas Deconinck, Bernard Dan
Jan 30, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·M KinaliF Muntoni
Apr 24, 2007·Nature·Ellen M WelchH Lee Sweeney
Sep 12, 2009·Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association·Z E Davidson, H Truby
Dec 1, 2009·Lancet Neurology·Katharine BushbyUNKNOWN DMD Care Considerations Working Group
Dec 1, 2009·Lancet Neurology·Katharine BushbyUNKNOWN DMD Care Considerations Working Group
Apr 7, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Christophe PichavantJacques P Tremblay
Mar 28, 2012·Annals of Neurology·Jerry R MendellRobert B Weiss
Jan 24, 2013·European Journal of Human Genetics : EJHG·Stuart J MoatLouise Hartley
Jul 10, 2013·Pediatric Pulmonology·Sonia KhiraniBrigitte Fauroux
Aug 3, 2013·Annals of Neurology·Jerry R MendellUNKNOWN Eteplirsen Study Group
Jul 22, 2014·Muscle & Nerve·Katharine BushbyUNKNOWN PTC124-GD-007-DMD STUDY GROUP

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Citations

Jan 6, 2016·Journal of Muscle Research and Cell Motility·C J MalavakiC Karatzaferi
Nov 16, 2018·Journal of Clinical Neuromuscular Disease·Sabrina PoonjaSteven C Greenway
Mar 19, 2019·Journal of Pediatric Rehabilitation Medicine·Yuan HongSuzanne McDermott
Aug 8, 2019·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·Rupeng ZhangChen Zhang
Feb 6, 2020·The Annals of Pharmacotherapy·Mary ByloDinesh Yogaratnam
May 21, 2020·Journal of Clinical Pharmacology·Xiaonan LiWilliam J Jusko
Jun 17, 2020·Molecular Genetics & Genomic Medicine·Edmond Wonkam-TingangAmbroise Wonkam
Sep 2, 2020·Connective Tissue Research·Claire YuanRobert W Grange
Aug 16, 2017·Glycobiology·M Osman SheikhLance Wells
Mar 16, 2018·Journal of Neuroengineering and Rehabilitation·Mohammad Nauzef MahmoodJaap H van Dieën
Jun 19, 2018·Frontiers in Physiology·Flavia F BloiseTania M Ortiga-Carvalho
Sep 22, 2018·Current Heart Failure Reports·Khatia Gabisonia, Fabio A Recchia
Mar 19, 2019·Journal of Pediatric Rehabilitation Medicine·Emily S HoF Virginia Wright
Sep 25, 2018·Frontiers in Physiology·Babette MaleinerChristiane Fuchs
Dec 14, 2018·Therapeutic Advances in Neurological Disorders·Lucia RuggieroFiore Manganelli
Sep 13, 2020·Proceedings of the National Academy of Sciences of the United States of America·Xu LiuEric A Ortlund
Aug 31, 2017·Journal of Neuroengineering and Rehabilitation·Joan Lobo-PratImelda J M de Groot
Nov 7, 2019·International Journal of Molecular Sciences·Daniela Gois BeghiniAndrea Henriques-Pons
Jun 25, 2018·Current Treatment Options in Neurology·Megan Crone, Jean K Mah
Nov 18, 2018·Journal of Exercise Rehabilitation·Hakan Atamturk, Arda Atamturk
May 31, 2019·The Journal of Immunology : Official Journal of the American Association of Immunologists·Albert C SekHelene F Rosenberg

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