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Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England

Lookup NU author(s): Dr Henriette van Ruiten, Dr Chiara Marini Bettolo, Professor Timothy Cheetham, Dr Michelle Eagle, Professor Hanns Lochmuller, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Professor Michela GuglieriORCiD


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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.

Publication metadata

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

Year: 2016

Volume: 20

Issue: 6

Pages: 904-909

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.


DOI: 10.1016/j.ejpn.2016.07.020


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Funder referenceFunder name
98482Medical Research Council UK
G1002274Medical Research Council UK