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Lookup NU author(s): Dr Henriette van Ruiten,
Dr Chiara Marini Bettolo,
Dr Timothy Cheetham,
Dr Michelle Eagle,
Professor Hanns Lochmuller,
Professor Volker Straub,
Emerita Professor Katherine Bushby,
Dr Michela Guglieri
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Introduction: Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease in children. Recent years have seen an increase in age of survival into adulthood following the introduction of proactive standards of care. We reviewed mortality in DMD in our population in order to identify potential underlying risk factors for premature death and improve clinical care.Method: A retrospective case note review of all deaths in the DMD population over the last 10 years in North East England. We identified 2 groups of patients: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly in the absence of underlying cardio-respiratory failure (group 2).Results: Detailed information was available on 21 patients. Mean age of death in group 1 (17 patients) was 23.9 (14.4-39.5) years, in group 2 (4 patients) 14 (12.7-14.9) years. Causes of death in group 2 were acute pneumonia, cardiac arrest, acute respiratory distress and multi-organ failure. Across both groups we identified concerns regarding respiratory failure, inadequate nutrition, non-attendance at appointments, suboptimal coordination of care and decreased psychological wellbeing. In group 2, fat embolism, cardiac arrhythmia and adrenal insufficiency were also potential contributing factors.Conclusions: The main cause of death in DMD in our population remains cardio-respiratory failure. Four patients (19%) died in their teenage years in the absence of severe cardiorespiratory failure. A more thorough understanding of the impact of DMD and its treatment on all organs systems is required to minimise the risk of an untimely death.
Author(s): Van Ruiten HJA, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M
Publication type: Article
Publication status: Published
Journal: European Journal of Paediatric Neurology
Print publication date: 01/11/2016
Online publication date: 30/07/2016
Acceptance date: 25/07/2016
ISSN (print): 1090-3798
ISSN (electronic): 1532-2130
Publisher: Elsevier Science Ltd.
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