Becker Muscular Dystrophy with Exon 27-43 Deletion: Clinical andGenetic Insights in a Pediatric Case: A Case Report

Information from the abstract

Introduction: Becker muscular dystrophy is an X-linked disorder of dystrophin that leads to gradually progressive muscle weakness, and cardiac abnormalities may appear regardless of the degree of skeletal muscle involvement. Case Presentation: An eight-year-old boy, born to non-consanguineous parents with an unremarkable birth and family history, began showing progressive lower-limb weakness at five years of age with troubles in activities of daily living. Examination revealed proximal weakness, hypotonia, and diminished reflexes, with no other systemic abnormalities with positive Gower’s sign, and bilateral calf hypertrophy. Creatine kinase was significantly raised. Genetic testing identified an in-frame deletion of exons 27-43 in the DMD gene, confirming Becker Muscular Dystrophy. The patient was managed with physiotherapy and corticosteroid therapy. Conclusions: The case emphasizes importance of early recognition, genetic diagnosis, and comprehensive long-term care in patients with Beckers muscular dystrophy. Keywords: frameshift mutation; genetic testing; muscular dystrophies.

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Related topics: Muscle Physiology and Disorders · Nuclear Structure and Function · Cardiomyopathy and Myosin Studies