Beyond the Diagnosis: A Comprehensive Case Report on Duchenne Muscular Dystrophy.

Abstract

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder characterized by the absence of dystrophin, leading to progressive muscle degeneration and generalized weakness. It primarily affects males in early childhood and progresses to loss of ambulation and cardiac and respiratory complications.

Case report: This case report describes a 26-year-old male with terminal-stage DMD who was admitted to the surgical intensive care unit (SICU) in a critically ill state with multiple-organ failure. He was ventilator-dependent via tracheostomy, hypotensive, anemic, and required cardiovascular support. He also had multiple pressure ulcers, including a Stage IV ulcer with associated edema, acute renal failure managed with continuous renal replacement therapy (CRRT), and sepsis due to mixed bacterial and fungal infections. Broad-spectrum antimicrobial therapy and intensive wound care were provided. This case highlights that advanced-stage DMD is a severe multisystem condition requiring intensive, specialized, and multidisciplinary care.

Conclusion: This case underscores the critical importance of a multidisciplinary approach in managing complex patient conditions, emphasizing the prevention of secondary complications such as pressure ulcers and pulmonary infections. Adherence to evidence-based guidelines, coupled with psychosocial and ethical considerations related to quality of life, remains essential. Establishing standardized care protocols, enhancing healthcare team training on the specific needs of these patients, and promoting home-based and palliative care services are strongly recommended to ensure comprehensive, coordinated, and patient-centered management.