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Paediatrics
Longitudinal management in Duchenne muscular dystrophy with exon 63 duplication
  1. Inggar Armytasari1,2,
  2. Retno Sutomo1,2 and
  3. Agung Triono1,2
  1. 1Department of Child Health, Public Hospital Dr Sardjito, Sleman, Indonesia
  2. 2Department of Child Health, Gadjah Mada University, Faculty of Medicine Public Health and Nursing, Sleman, Indonesia
  1. Correspondence to Dr Inggar Armytasari; i.armyta{at}gmail.com

Abstract

A boy with nonambulatory Duchenne muscular dystrophy (DMD) tested positive for exon 63 duplication and exhibited intellectual disability, overweight and dyslipidaemia. The patient underwent a comprehensive multidisciplinary approach involving pharmacological and non-pharmacological interventions. Despite challenges, such as socioeconomic constraints and limited access to advanced therapies, the patient received tailored care. The management included prednisone medication, dietary modifications and psychological support. The patient’s journey highlighted the complex interplay of medical and psychosocial factors affecting DMD patients in resource-limited settings. Regular monitoring and the involvement of the patient’s family in a peer group were arranged to improve overall quality of life. The case underscores the need for accessible and holistic care for DMD patients, addressing both medical and psychosocial challenges.

  • Developmental paediatrocs
  • Neuromuscular disease
  • Neuro genetics
  • Paediatrics

https://doi.org/10.1136/bcr-2024-260706

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: IA, RS and AT. The following authors gave final approval of the manuscript: IA, RS and AT.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.