The research was aimed on the study of motor capabilities on the Motor Function Measure (MFM) scale in ambulant and non-ambulant patients with Duchenne muscular dystrophy, and to conduct a correlation analysis between the results of the MFM scale and Magnetic Resonance Imaging (MRI) data. A total of 46 boys who had genetically confirmed Duchenne muscular dystrophy (age from 2.1 to 16.7 years) and were in clinical rehabilitation were investigated. An assessment was performed according to the Motor Function Measure scale (subsections D1, D2, D3, and the total score), an MRI obtaining T1-VI of the muscles of the pelvic girdle was conducted, and the thighs and lower legs were further assessed in terms of the severity of fibrous-fat degeneration according to the Mercuri scale. In ambulant patients, the ability to stand up and move (D1) was 74.4%, axial and proximal motor functions (D2)—97.6%, distal motor functions (D3)—96.2%, and total score was 87.9%. In non-ambulant patients, the ability to stand up and move (D1) was 1.7%, axial and proximal motor functions (D2)—47%, distal motor functions (D3)—67.5%, and the total score—33.1%. A high inverse correlation (r = −0.7, p < 0.05) of the MRI data of the pelvic girdle and thighs with tasks D1, as well as a noticeable inverse correlation with tasks D2 (r = −0.6, p < 0.05) of the scale MFM, were revealed in the ambulant group of patients. In the non-ambulant group of patients, the MRI data of the lower legs muscles were characterized by a high inverse correlation (r = −0.7, p < 0.05) with tasks D3 and a noticeable inverse correlation (r = −0.6, p < 0.05) with tasks D1 of the MFM scale. Conclusion: The Motor Function Measure scale allows effective assessment of the motor capabilities of patients with Duchenne muscular dystrophy at different stages of the disease, which is confirmed by visualization of fibro-fatty muscle replacement.
Duchenne muscular dystrophy (DMD) is one of the most common forms of hereditary muscular dystrophies in childhood and is characterized by steady progression and early disability. It is known that physical therapy can slow down the rate of progression of the disease. According to global recommendations, pool exercises, along with stretching, are preferable for children with DMD, as these types of activities have a balanced effect on skeletal muscles and allow simultaneous breathing exercises. The present study aimed to evaluate the effectiveness of regular pool exercises in patients with Duchenne muscular dystrophy who are capable of independent movement during 4 months of training. 28 patients with genetically confirmed Duchenne muscular dystrophy, who were aged 6.9 ± 0.2 years, were examined. A 6-min distance walking test and timed tests, namely, rising from the floor, 10-meter running, and stair climbing and descending, muscle strength of the upper and lower extremities were assessed on the baseline and during dynamic observation at 2 and 4 months. Hydrorehabilitation course lasted 4 months and was divided into two stages: preparatory and training (depend on individual functional heart reserve (IFHR)). Set of exercises included pool dynamic aerobic exercises. Quantitative muscle MRI of the pelvic girdle and thigh was performed six times: before training (further BT) and after training (further AT) during all course. According to the results of the study, a statistically significant improvement was identified in a 6-min walking test, with 462.7 ± 6.2 m on the baseline and 492.0 ± 6.4 m after 4 months (p < 0.001). The results from the timed functional tests were as follows: rising from the floor test, 4.5 ± 0.3 s on the baseline and 3.8 ± 0.2 s after 4 months (p < 0.001); 10 meter distance running test, 4.9 ± 0.1 s on the baseline and 4.3 ± 0.1 s after 4 months (p < 0.001); 4-stair climbing test, 3.7 ± 0.2 s on the baseline and 3.2 ± 0.2 s after 4 months (p < 0.001); and 4-stair descent test, 3.9 ± 0.1 s on the baseline and 3.2 ± 0.1 s after 4 months (p < 0.001). Skeletal muscle quantitative MRI was performed in the pelvis and the thighs in order to assess the impact of the procedures on the muscle structure. Muscle water T2, a biomarker of disease activity, did not show any change during the training period, suggesting the absence of deleterious effects and negative impact on disease activity. Thus, a set of dynamic aerobic exercises in water can be regarded as effective and safe for patients with DMD.
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and cardiac functions. At various stages of the disease, different methods of care and treatment of patients with DMD are used. The clinical effect of new methods of DMD target therapy may depend on the stage of development of the disease (ambulatory or non‑ambulatory). To date, there are no unified criteria for assessing the status of a patient in terms ambulatory. In clinical trials and real clinical practice, different approaches are used to assess the patient’s status. However, the conclusion about the functional capabilities is critical for patients with DMD as approaches in management of patients in ambulatory and non‑ambulatory stages differ significantly. This necessitates expert consensus to achieve consistency and avoid any of discrepancies on that issue.The paper reviews the available published data on the concepts of “ambulatory” and “non‑ambulatory” used in clinical trials, real clinical practice, international standards and recommendations. As a conclusion of this analysis, it is proposed in real clinical practice to interpret “ambulation” in DMD patients as ability to walk without the use of assistive devices and without specifying the distance and time, and “non‑ambulation” as condition in which the patient is forced to constantly use a wheelchair both indoors and outdoors.
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