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Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

Nascimento Osorio, A ; Medina Cantillo, J ; Camacho Salas, A ; Madruga Garrido, M ; Vilchez Padilla, J.J

Neurología (Barcelona, English ed. ), 2019-09, Vol.34 (7), p.469-481 [Periódico revisado por pares]

Elsevier España, S.L.U

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  • Título:
    Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy
  • Autor: Nascimento Osorio, A ; Medina Cantillo, J ; Camacho Salas, A ; Madruga Garrido, M ; Vilchez Padilla, J.J
  • Assuntos: Consenso ; Consensus ; Duchenne ; Gene therapy ; Individualised ; Individualizado ; Internal Medicine ; Management ; Manejo ; Multidisciplinar ; Multidisciplinary ; Neurology ; Terapia génica
  • É parte de: Neurología (Barcelona, English ed. ), 2019-09, Vol.34 (7), p.469-481
  • Descrição: AbstractIntroductionDuchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10 000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DevelopmentWe performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. ConclusionsDMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients’ quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.
  • Editor: Elsevier España, S.L.U
  • Idioma: Inglês

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