title: Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors.affiliation: Great North Children's Hospital, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, New Victoria Wing, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK; The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: H J A
authors.initials: HJ
authors.lastname: Van Ruiten
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: C
authors.initials: C
authors.lastname: Marini Bettolo
authors.affiliation: Great North Children's Hospital, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, New Victoria Wing, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
authors.forename: T
authors.initials: T
authors.lastname: Cheetham
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: M
authors.initials: M
authors.lastname: Eagle
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: H
authors.initials: H
authors.lastname: Lochmuller
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.affiliation: The John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. Electronic address: michela.guglieri@ncl.ac.uk.
authors.forename: M
authors.initials: M
authors.lastname: Guglieri
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D001007:Anxiety / Q000209:etiology / Q000523:psychology; D002423:Cause of Death; D002648:Child; D003863:Depression / Q000209:etiology / Q000523:psychology; D004739:England / Q000453:epidemiology; D005260:Female; D006333:Heart Failure / Q000209:etiology / Q000401:mortality; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000188:drug therapy / Q000401:mortality*; D012131:Respiratory Insufficiency / Q000209:etiology / Q000401:mortality; D012189:Retrospective Studies; D012307:Risk Factors; D014797:Vital Capacity; D055815:Young Adult
chemical_list: D000305:Adrenal Cortex Hormones
keywords: Corticosteroids; Duchenne muscular dystrophy; Mortality; Premature death