Abstract
Objectives
This study aimed to investigate whether the site of DMD gene mutations is linked to motor functions in children with Duchenne muscular dystrophy
(DMD).
Methods
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.
Result
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).
Conclusion
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.
Keywords
Duchenne muscular dystrophy - DMD gene - dystrophin isoforms - motor functions - physical
therapy - rehabilitation
