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Duchenne Muscular Dystrophy (DMD) is a progressive X-linked neuromuscular disorder characterized by muscle degeneration, pseudohypertrophy, and declining functional mobility. This cross-sectional observational study investigates the relationship between gastrocnemius muscle architecture and functional ability in ambulatory children with DMD. Muscle thickness and fascicle length were assessed using ultrasonography and correlated with motor function and ankle plantarflexion during gait.
Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disorder characterized by progressive muscle degeneration, fatty infiltration, fibrosis, and loss of functional capacity during childhood. Although pseudohypertrophy may cause apparent enlargement of calf muscles, structural changes do not necessarily reflect muscle quality or functional performance.
This cross-sectional observational study included 26 ambulatory male children aged 6 to 12 years diagnosed with DMD. Participants underwent a single comprehensive assessment session.
Muscle architecture of the medial gastrocnemius muscle was evaluated using 2-dimensional ultrasonography (Mindray DP-10, 7.5 MHz probe) to measure muscle thickness and fascicle length.
Functional ability was assessed using:
Ankle plantarflexion range of motion during gait was measured using Kinovea motion analysis software with 2D digital video analysis.
Correlation analysis was performed to determine the relationship between muscle architectural parameters and functional ability measures.
No therapeutic intervention, randomization, or group allocation was performed.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Ambulatory Children With Duchenne Muscular Dystrophy | Male children aged 6 to 12 years diagnosed with Duchenne Muscular Dystrophy and able to ambulate. Participants underwent assessment of gastrocnemius muscle architecture using ultrasonography and evaluation of functional ability using standardized outcome measures during a single assessment session. No intervention was administered. |
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| Measure | Description | Time Frame |
|---|---|---|
| Gastrocnemius Muscle Thickness and Fascicle Length | Measured using 2-dimensional ultrasonography (Mindray DP-10, 7.5 MHz probe). | Single Assessment Session |
| Functional Ability (Motor Function Measure-32) | Functional performance was assessed using the Motor Function Measure-32 scale. | Single Assessment Session |
| Ankle Plantarflexion Range of Motion During Gait | Measured using Kinovea 2D motion analysis software. | Single Assessment Session |
| Timed 10-Meter Walk Test | Time required to walk 10 meters is used to assess ambulatory performance. | Single Assessment Session |
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Inclusion Criteria:
Exclusion Criteria:
This study includes male participants only because Duchenne Muscular Dystrophy is an X-linked recessive genetic disorder that primarily affects males. Female carriers are typically asymptomatic or present with milder manifestations and were not included in this study population.
Male children aged 6 to 12 years diagnosed with Duchenne Muscular Dystrophy who were ambulatory and recruited from outpatient pediatric physical therapy clinics. Participants met specific inclusion criteria including Vignos Scale grades 1 to 7 and presence of calf pseudohypertrophy. All participants underwent a single assessment session to evaluate gastrocnemius muscle architecture and functional ability. No therapeutic intervention was administered.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Deraya university, faculty of physical therapy | Minya | Menia Governorate | Egypt |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20599384 | Background | Gaudreault N, Gravel D, Nadeau S, Houde S, Gagnon D. Gait patterns comparison of children with Duchenne muscular dystrophy to those of control subjects considering the effect of gait velocity. Gait Posture. 2010 Jul;32(3):342-7. doi: 10.1016/j.gaitpost.2010.06.003. | |
| 23602884 | Background | de Lattre C, Payan C, Vuillerot C, Rippert P, de Castro D, Berard C, Poirot I; MFM-20 Study Group. Motor function measure: validation of a short form for young children with neuromuscular diseases. Arch Phys Med Rehabil. 2013 Nov;94(11):2218-26. doi: 10.1016/j.apmr.2013.04.001. Epub 2013 Apr 18. |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009468 | Neuromuscular Diseases |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| Background | Darras, B. T., et al. (2014). Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach, Elsevier. |
| 35195227 | Background | Bulut N, Karaduman A, Alemdaroglu-Gurbuz I, Yilmaz O, Topaloglu H, Ozcakar L. Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy. Arq Neuropsiquiatr. 2022 May;80(5):475-481. doi: 10.1590/0004-282X-ANP-2021-0038. |
| 16106528 | Background | Berard C, Payan C, Hodgkinson I, Fermanian J; MFM Collaborative Study Group. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005 Jul;15(7):463-70. doi: 10.1016/j.nmd.2005.03.004. |
| 37955832 | Background | Akat A, Karaoz E. Cell Therapy Strategies on Duchenne Muscular Dystrophy: A Systematic Review of Clinical Applications. Stem Cell Rev Rep. 2024 Jan;20(1):138-158. doi: 10.1007/s12015-023-10653-8. Epub 2023 Nov 13. |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |