Abstract
Background: Dystrophin-related muscular dystrophies are a group of diseases caused by mutations in the dystrophin gene that are inherited in an X-linked recessive manner. Objectives: We aimed to discuss the clinical, laboratory, genetic, treatment, and prognostic features, as well as diagnostic clues, of our DMD/BMD patients. Methods: The medical records of 39 children who were followed up with DMD/BMD diagnoses at Bursa Uludağ University Faculty of Medicine Child Neurology Clinic between August 2018 and September 2023 were evaluated retrospectively. DMD or BMD is diagnosed by genetic testing or muscle biopsy. Results: All patients were male, and the age of symptom onset was 3.44 ± 2.7 years (range: 1 - 12.2 years). Twenty-two cases were symptomatic, presenting with difficulty walking (N = 17), difficulty climbing stairs (N = 14), and getting tired quickly (N = 11). Seventeen cases were initially asymptomatic, identified through elevated CK, AST, and ALT levels. Conclusions: Early recognition that increased serum transaminase and CK levels reflect muscle disease accelerates the diagnosis of underlying conditions and protects patients from unnecessary, invasive, and costly diagnostic testing.
Published Version
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