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Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

  • Gadaleta, Giulio1
  • Urbano, Guido1
  • Brusa, Chiara1, 2, 3
  • D'Alessandro, Rossella2
  • Rolle, Enrica1, 2
  • Cavallina, Ilaria1, 2
  • Mattei, Alessio4
  • Ribolla, Fulvia5
  • Raineri, Claudia6
  • Pidello, Stefano6
  • Vercelli, Liliana1
  • Ricci, Federica S2
  • Mongini, Tiziana E1
  • 1 Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy. , (Italy)
  • 2 Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy. , (Italy)
  • 3 Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health, London, UK.
  • 4 SC Pneumology, S. Croce and Carle Hospital, Cuneo, Italy. , (Italy)
  • 5 Pneumology Unit, Department of Cardiovascular and Thoracic Medicine, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy. , (Italy)
  • 6 Division of Cardiology, Department of Cardiovascular and Thoracic Medicine, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy. , (Italy)
Published Article
European journal of neurology
Publication Date
Jan 01, 2024
DOI: 10.1111/ene.16060
PMID: 37724986


Advances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease. Nineteen individuals aged 25-48 years (median 34 years) with a confirmed diagnosis of out-of-frame DMD gene mutation were selected. All patients were mechanically ventilated (5/19 via tracheostomy), with different patterns of cardiomyopathy. Swallowing and nutritional issues were frequent (median body mass index 18.95), with six cases requiring artificial enteral feeding (median age at start 29 years), as well as bone density alterations (11/19, 58%). Only 2/19 had been on long-term prednisone therapy. Issues requiring at-home/hospital assistance were respiratory infections (15/19, 79%), gastroenterological symptoms (9/19, 47%, including toxic megacolon and rectal perforation after repeated enemas), metabolic acidosis (2/19, 11%) and recurrent ischaemic strokes (1/19, 5%). From a social perspective, augmented-alternative communication devices were necessary for 7/19 (37%), with most of the patients being assisted at home and 2/19 institutionalized. Eight/19 (42%) patients experienced psychiatric symptoms (median age at presentation 16 years) and 9/19 (47%) chronic pain (median age at onset 23 years), in both cases treated with psychoactive/analgesic drugs without major adverse events. The patients' subjective perception of physical health resulted in unfavourable scores, whilst the subjective assessment of mental health unexpectedly showed more positive values compared to other chronic neurological conditions. The analysis of adults living with DMD reveals several new health-related issues, such as the management of emergencies and safety of pharmacological treatments for psychiatric symptoms, chronic pain management, as well as an increasing caregivers burden. © 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.

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