[Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy].

Der Nervenarzt
Guenther BernertMaggie C Walter

Abstract

Duchenne muscular dystrophy (DMD) is the most frequent genetic neuromuscular disease in childhood with loss of ambulation usually occurring around the age of 9-11 years. Based on current guidelines and clinical trials, neuropediatric and neurological experts developed recommendations for the treatment of nonambulatory DMD patients focusing on drug treatment of adults. This advisory board was sponsored by PTC Therapeutics, the distributers of the substance ataluren. Loss of ambulation is heterogeneously defined across clinical trials. Among others, the need of a wheelchair, ambulation without mobility aids or maximum walking distance can be suitable parameters for assessment. Treatment of DMD patients at any stage of the disease is based on supportive and symptomatic measures, which should be continued after loss of ambulation. In addition, disease-modifying drugs are available for the treatment of DMD and glucocorticoids are the usual standard of care treatment even beyond the loss of ambulation. Ataluren, a potentially dystrophin restorative, disease-modifying treatment, has been approved for patients with DMD due to a nonsense mutation (nmDMD), which applies to approximately 13% of DMD patients and is usually combined with st...Continue Reading

References

Dec 28, 2007·The New England Journal of Medicine·Judith C van DeutekomGert-Jan B van Ommen
Dec 1, 2009·Lancet Neurology·Katharine BushbyUNKNOWN DMD Care Considerations Working Group
Sep 17, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Véronique HumbertclaudeSylvie Tuffery-Giraud
Aug 16, 2012·Current Opinion in Neurology·Ingrid E C Verhaart, Annemieke Aartsma-Rus
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
Jul 25, 2014·Muscle & Nerve·Anne M ConnollyUNKNOWN MDA DMD Clinical Research Network
Aug 1, 2014·International Journal of Medical Sciences·Susana GarciaCarolina Gomez-Llorente
Nov 18, 2015·Annals of Neurology·Jerry R MendellUNKNOWN Eteplirsen Study Group and Telethon Foundation DMD Italian Network
May 31, 2016·Neuromuscular Disorders : NMD·Craig M McDonaldUNKNOWN DELOS Study Group
Jul 18, 2016·Neuromuscular Disorders : NMD·Eugenio MercuriUNKNOWN Trajectory Analysis Project (cTAP)
Apr 28, 2017·Orphanet Journal of Rare Diseases·S RyderJ Kleijnen
Feb 6, 2018·Lancet Neurology·David J BirnkrantUNKNOWN DMD Care Considerations Working Group
Mar 12, 2019·Journal of Neuromuscular Diseases·Navid KhanUNKNOWN Eteplirsen Investigators and the CINRG DNHS Investigators
May 31, 2019·Nature Reviews. Neurology·Ingrid E C Verhaart, Annemieke Aartsma-Rus
Dec 10, 2019·Neuromuscular Disorders : NMD·Laurent ServaisUNKNOWN SYROS and CINRG DNHS Investigators
Jan 31, 2020·Journal of Comparative Effectiveness Research·Eugenio MercuriUNKNOWN CINRG Duchenne Natural History Investigators
Mar 7, 2020·Neurology·Diane E FrankUNKNOWN SKIP-NMD Study Group

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Citations

Sep 24, 2021·Pflügers Archiv : European journal of physiology·Kay Ohlendieck, Dieter Swandulla

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Software Mentioned

MyoGrip
Idebenon
SYROS
MyoPinch
DELOS

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