Clinical Characterization of 53 Egyptian children diagnosed as Duchenne Muscular Dystrophy in tertiary unit in upper Egypt

Abstract

Background: Muscular dystrophies, which are characterized by progressive muscle atrophy, are a heterogeneous group of inherited muscular diseases. Aim of work: Clinical aspects in children with Duchenne muscular dystrophy at Sohag University Hospital. Subjects and methods: This was cross-sectional research performed at the pediatric department and pediatric neurology unit, Sohag University Hospital over two years, from 2022 to 2023. Results: In our research, 53 children had a confirmed Duchenne diagnosis, divided into two groups according to ambulation: Group A: 33 (62.3%) ambulant children. Group B: 20 (37.7%) non-ambulant children. The verbal and total IQ tests were significantly higher in group A than group B. The EF (ejection fraction) and FS (fraction shortening) were significantly higher in group A than group B. All patients had hyporeflexia. Regarding muscle state, there was calf hypertrophy in 33 (100%) of group A and 3 (15%) in group B, and Muscle wasting in 17 (85%) of group B compared to no cases in group A, which was significantly different. As regard skeletal abnormalities, 27 (81.8%) patients in group A had lordosis compared to 4 (20%) patients in group B, while 4 (20%) had scoliosis, 5 (25% had scoliosis and joint stiffness), and 5 (25% had joint stiffness) in group B, with no cases in group A with a statistically significant difference. Functional ability (North Star score) was positively correlated with young age. Conclusion: Younger age and ambulant status were associated with better cardiac, muscular, skeletal, cognitive, functional outcomes and abilities in Duchenne muscular dystrophy patients.