Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?

This study aimed to investigate whether the site of DMD gene mutations is linked to motor functions in children with Duchenne muscular dystrophy (DMD).A total of 58 children with DMD, aged between 7 and 16 years, were divided into two groups according to the site of mutation (proximal or distal). Motor functions of the groups were compared.The physical and demographic characteristics of two groups were similar (p > 0.05). Distal group had significantly worser Brooke Lower Extremity Functional Classification (BLEFC) (median 3) and D2 score of Motor Function Measure (MFM-32/D2) (mean 86.78 ± 19.83) than proximal group [BLEFC, median 1; MFM-32/D2, mean 93.77 ± 14.89] (p ≤ 0.05). There was no difference in timed performance tests and Four Square Step Test between two groups (p > 0.05).Considering that mutations in the distal site of the DMD gene may lead to poorer motor function, performance outcomes, dynamic balance and functional status compared to proximal mutations, it is important to take the mutation site into account in the evaluation and intervention of children with DMD. Early recognition of the mutation site may help professionals implement timely and proactive strategies to maintain motor functional abilities for a longer duration.