Evaluation of patients diagnosed with Duschenne Muscular Dystrophy (DMD) who applied to the Pediatric Neurology outpatient clinic between January 2015 and January 2023

Objectives: We aimed to reveal the clinical, demographic, laboratory and treatment characteristics of patients diagnosed with Duchenne muscular dystrophy (DMD) who applied to the Child Neurology Polyclinic of Karadeniz Technical University Faculty of Medicine. Methods: It was planned as a single-center, retrospective, descriptive study. With ethics committee approval, patients who applied to the pediatric neurology outpatient clinic between January 2015 and January 2023 and were diagnosed with DMD between the ages of 0 and 18 were included. Cases that did not receive a genetically confirmed diagnosis were not included in the study. Data were obtained from hospital records, archive files, and case form records created according to criteria in line with international standards. Results: The average age of patients when they first applied to us was 3.69 (±3.25) years, and the average age at diagnosis was 3.84 (±3.54) years. The first presenting complaint of the patients was high serum CK level in 57.6% (n=34). Although a total of 14 patients had a history of total 18 operations under general anesthesia, none of the patients developed complications like malignant hyperthermia etc. In patients; Exon deletion (62.7%), exon duplication (5.1%), frameshift (15.3%) , nonsense (10.2%), insertion (1.7%), spliceside (1.7%), splicedonor mutation (1.7%) and missence mutation (1.7%) was detected. 41 (69.5%) of the patients had a history of steroid use. The average age of starting steroid treatment was 5.09 (±2.43) years. It was determined that long bone fractures developed in 6 of the patients. DMD-related cardiac involvement was detected in six (10.2%) patients. Conclusion: The genetic mutation map of our patients was drawn and the basic data pool was created for future treatments of DMD. DMD should be managed with a multidisciplinary approach at each stage of diagnosis, treatment and follow-up. Patients' data records should be kept orderly and completely.