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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?
Esra Aldırmaz1, Numan Bulut1, Öznur Tunca-Yılmaz1
1Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Altındağ, Ankara, Turkey.
Insights
Duchenne muscular dystrophy (DMD) patients with distal DMD gene mutations show worse motor function than those with proximal mutations. Understanding mutation site aids tailored interventions for better outcomes.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting muscle function.
- The location of DMD gene mutations may influence disease progression and clinical presentation.
Purpose of the Study:
- To investigate the association between the site of DMD gene mutations (proximal vs. distal) and motor function in children with DMD.
- To determine if mutation location impacts specific functional assessments.
Main Methods:
- A cohort of 58 children with DMD (aged 7-16) was divided into proximal and distal mutation groups.
- Motor function was assessed using the Brooke Lower Extremity Functional Classification (BLEFC) and the Motor Function Measure (MFM-32/D2).
- Timed performance tests and the Four Square Step Test were also administered.
Main Results:
- Groups showed no significant differences in physical and demographic characteristics.
- Children with distal DMD mutations had significantly poorer BLEFC and MFM-32/D2 scores compared to those with proximal mutations.
- No significant differences were observed in timed performance tests or the Four Square Step Test between the groups.
Conclusions:
- Distal DMD gene mutations may be associated with more severe motor impairments, affecting functional status and balance.
- Identifying the mutation site is crucial for personalized evaluation and intervention strategies in children with DMD.
- Proactive management based on mutation site can help preserve motor function longer.
Abstract:
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.
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