Diagnostic, clinical and therapeutic challenges in patients with Duchenne muscular dystrophy – patient series reports

The aim of the study was to assess timely recognition of clinical characteristics and implementation of a multidisciplinary approach according to the latest guidelines, and to analyse clinical course in patients on gene therapy. The research was designed as a crosssectional and retrospective study. Patients with dystrophinopathies and their contacts were singled out by retrospective analysis of medical documentation. Data on current age, age at diagnosis, type of mutations, methods of confi rming the diagnosis, clinical picture and therapy administered were extracted. Nine subjects were included in the study, eight with the diagnosis of Duchenne muscular dystrophy (DMD) and one with the diagnosis of Becker muscular dystrophy (BDM). The age at diagnosis of DMD ranged between two and six and a half years, while in the subject with BMD it was set at the age of eleven. Considering types of mutations, four patients had deletions, three of them duplications and two of them point mutations. Six subjects were mobile independently, while three subjects were dependent on wheelchair use. Pulmonary function was normal in seven subjects, while two developed chronic pulmonary insuffi ciency and used non-invasive ventilation methods. Six subjects were on glucocorticoid therapy and all were using defl azacort. In conclusion, patients with DMD, in addition to basic progressive muscle weakness, also develop complications of other organ systems, which requires multidisciplinary care. The advent of gene therapy as a causal therapy for DMD has placed additional emphasis on diagnosing the disease as early as possible. This achieves an additional prolongation of life expectancy and increase in the quality of life in patients with DMD.
Keywords: MUSCULAR DYSTROPHY, DUCHENNE; CHILDREN; GENETIC THERAPY; ATALUREN
Category: Case report
Volume: Vol. 64, No 4, october - december 2020
Authors: Radenka Kuzmanić Šamija, Marta Plejić
Reference work: Paediatr Croat. 2020;64:282-8
DOI: http://dx.doi.org/10.13112/PC.2020.41

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