A Comprehensive Review and Evaluation of Duchenne Muscular Dystrophy (DMD) in a Specific Medical Center: Neurological and Cardiac Implications with a Focus on Retrospective Analysis of 16 Cases

Authors

  • Amal AlQassmi
  • Huda Khaleel

DOI:

https://doi.org/10.47672/ejhs.2433

Abstract

Purpose: The study aimed to investigate the effectiveness of various diagnostic and treatment strategies for Duchenne Muscular Dystrophy (DMD) in a cohort of 16 patients, focusing on their long-term outcomes.

Material and Methods:   A retrospective analysis was conducted using SPSS tools, including descriptive statistics, correlation analysis, and regression analysis. The study explored the relationship between initial diagnostic findings (CK levels, genetic mutations, ECHO, ECG) and patient outcomes, such as mobility and cardiac health.

Findings: The study's findings revealed significant outcomes in the management of Duchenne Muscular Dystrophy (DMD). Notably, 85% of patients treated with corticosteroids experienced a 60% improvement in mobility, while 50% of those receiving physiotherapy were able to maintain ambulation. Regarding cardiac health, the mean age of onset for cardiomyopathy was 12.5 years, with a prevalence rate of 25%, which is lower than in previous studies, suggesting that earlier and more effective interventions were implemented in this cohort. Additionally, the study found that higher CK levels and specific genetic mutations were predictive of more severe disease progression. A comparative analysis with prior research indicated lower rates of wheelchair dependency and cardiomyopathy in this cohort, potentially due to differences in patient demographics and treatment protocols.

Implications to Theory, Practice and Policy: This study supports the use of a multidisciplinary approach in DMD management, incorporating early diagnosis, personalized treatment plans, and innovative therapies such as plasmapheresis and gene therapy. It contributes new insights into optimizing care strategies for DMD and underscores the need for further research to validate these findings and explore new treatment avenues.

Downloads

Download data is not yet available.

References

Angelini, G., Mura, G., & Messina, G. (2022). Therapeutic approaches to preserve the musculature in Duchenne Muscular Dystrophy: The importance of the secondary therapies. Experimental Cell Research, 410(2), 112968. https://doi.org/10.1016/j.yexcr.2021.112968

Birnkrant, D. J., Bello, L., Butterfield, R. J., Carter, J. C., Cripe, L., Cripe, T. P., McKim, D., Nandi, D., & Pegoraro, E. (2022). Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges. The Lancet. Respiratory Medicine, 10(4), 403–420. https://doi.org/10.1016/s2213-2600(21)00581-6

Elangkovan, N., & Dickson, G. (2021). Gene Therapy for Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases, 8(s2), S303–S316. https://doi.org/10.3233/jnd-210678

Filippelli, R. L., & Chang, N. C. (2021). Empowering Muscle Stem Cells for the Treatment of Duchenne Muscular Dystrophy. Cells Tissues Organs, 211(6), 641–654. https://doi.org/10.1159/000514305

Fortunato, F., Rossi, R., Falzarano, M. S., & Ferlini, A. (2021). Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. Journal of Clinical Medicine, 10(4), 820. https://doi.org/10.3390/jcm10040820

Gatto, F., Benemei, S., Piluso, G., & Bello, L. (2024). The complex landscape of DMD mutations: moving towards personalized medicine. Frontiers in Genetics, 15. https://doi.org/10.3389/fgene.2024.1360224

Jin, M., Lin, J., Li, H., Li, Z., Dong, Y., Yin, W., Yu, Y., Shao, Z., Chen, L., Wang, Z., Zhang, Y., Zhang, X., Wang, N., Xu, C., Yang, H., Chen, W., & Li, G. (2024). Correction of human non-sense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse. Molecular Therapy. Nucleic Acids, 35(2), 102165. https://doi.org/10.1016/j.omtn.2024.102165

Juříková, L., Masárová, L., Panovský, R., Pešl, M., Revendová, K. Ž., Volný, O., Feitová, V., Holeček, T., Kincl, V., Danhofer, P., Voháňka, S., Haberlová, J., & Podolská, K. (2024). Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment. Frontiers in Neurology, 15. https://doi.org/10.3389/fneur.2024.1360385

Kirschner, J. (2024). New therapeutic avenues for Duchenne muscular dystrophy. Lancet Neurology, 23(4), 330–331. https://doi.org/10.1016/s1474-4422(24)00082-6

Kuzenkova, L. M., Podkletnova, T. V., Uvakina, E. V., Popovich, S. G., & Andreenko, N. V. (2024). Clinical case of management of a patient with Duchenne muscular dystrophy caused by deletion of exons 50–52 of the DMD gene against the background of pathogenetic therapy with viltolarsen. Nevrologičeskij Žurnal Imeni L.O. Badalâna, 5(1), 38–44. https://doi.org/10.46563/2686-8997-2024-5-1-38-44

Łoboda, A., & Dulak, J. (2020). Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future. Pharmacological Reports, 72(5), 1227–1263. https://doi.org/10.1007/s43440-020-00134-x

Mackenzie, S., Nicolau, S., Connolly, A. M., & Mendell, J. R. (2021). Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New. Seminars in Pediatric Neurology, 37, 100877. https://doi.org/10.1016/j.spen.2021.100877

Markati, T., De Waele, L., Schara-Schmidt, U., & Servais, L. (2021). Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy. Frontiers in Pharmacology, 12. https://doi.org/10.3389/fphar.2021.735912

Mbakam, C. H., Lamothe, G., & Tremblay, J. P. (2022). Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy. Frontiers in Medicine, 9. https://doi.org/10.3389/fmed.2022.859930

Mendell, J. R., Proud, C. M., Zaidman, C., Mason, S., Darton, E., Wang, S., Wandel, C., Murphy, A. P., Mercuri, E., Muntoni, F., & McDonald, C. (2024). Practical considerations for delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy. Pediatric Neurology, 153, 11–18. https://doi.org/10.1016/j.pediatrneurol.2024.01.003

Ricci, G., Bello, L., Torri, F., Schirinzi, E., Pegoraro, E., & Siciliano, G. (2022). Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy. Neurological Sciences, 43(S2), 625–633. https://doi.org/10.1007/s10072-022-06085-w

Schultz, T., Raucci, F., & Salloum, F. N. (2022). Cardiovascular Disease in Duchenne Muscular Dystrophy. JACC. Basic to Translational Science, 7(6), 608–625. https://doi.org/10.1016/j.jacbts.2021.11.004

Shah, N. A., & Yokota, T. (2023). Cardiac therapies for Duchenne muscular dystrophy. Therapeutic Advances in Neurological Disorders, 16. https://doi.org/10.1177/17562864231182934

Szabo, S. M., Salhany, R. M., Deighton, A., Harwood, M., Mah, J. K., & Gooch, K. (2021). The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-01862-w

Villa, C., Auerbach, S. R., Bansal, N., Birnbaum, B., Conway, J., Esteso, P., Gambetta, K., Hall, E. K., Kaufman, B. D., Kirmani, S., Lal, A. K., Martinez, H. R., Nandi, D., O’Connor, M. J., Parent, J. J., Raucci, F., Shih, R., Shugh, S., Soslow, J. H., & Cripe, L. (2022). Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION. Pediatric Cardiology, 43(5), 977–985. https://doi.org/10.1007/s00246-021-02807-7

Yao, S., Chen, Z., Yu, Y., Zhang, N., Jiang, H., Zhang, G., Zhang, Z., & Zhang, B.-T. (2021). Current Pharmacological Strategies for Duchenne Muscular Dystrophy. Frontiers in Cell and Developmental Biology, 9. https://doi.org/10.3389/fcell.2021.689533

Downloads

Published

2024-09-17

How to Cite

AlQassmi, A., & Khaleel, H. (2024). A Comprehensive Review and Evaluation of Duchenne Muscular Dystrophy (DMD) in a Specific Medical Center: Neurological and Cardiac Implications with a Focus on Retrospective Analysis of 16 Cases. European Journal of Health Sciences, 8(5), 52–92. https://doi.org/10.47672/ejhs.2433

Issue

Section

Articles