Muscular Dystrophies: An Update Review


Authors : Devarakonda Shalini; Jahangir Alam

Volume/Issue : Volume 9 - 2024, Issue 5 - May


Google Scholar : https://tinyurl.com/4dzask28

Scribd : https://tinyurl.com/2n6kv3jh

DOI : https://doi.org/10.38124/ijisrt/IJISRT24MAY507

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Abstract : A broad group of illnesses known as muscular dystrophies are defined by pathologic alterations found in muscle tissue following biopsy. A progressive weakening of the skeletal muscles characterises the clinical appearance of these disorders. The most common type of muscular dystrophy is Duchenne Muscular Dystrophy, an X-linked recessive disease. Distal muscular dystrophy is most common in people between the ages of 40 and 60 and primarily affects the lower limbs, such as the hands, feet, arms, and legs. The development of muscle weakness during infancy or early childhood, usually before the age of two, is a common symptom of congenital muscular dystrophy. The majority of MD types frequently result in respiratory issues that affect the diaphragm and other breathing muscles. Several MD subtypes are linked to cardiac arrhythmias or cardiomyopathy. This class of disorders is the main target of gene transfer and gene repair therapies.

Keywords : Muscular Dystrophy, Immunosuppressant, Duchenne Muscular Dystrophy, Electrocardiogram, Facioscapulohumeral Muscular Dystrophy

References :

  1. Sahay, K. M., Smith, T., Conway, K. M., Romitti, P. A., Lamb, M. M., Andrews, J., Pandya, S., Oleszek, J., Cunniff, C., Valdez, R., & on behalf of the MD STARnet. (2018). A review of MD STARnet’s research contributions to pediatric-onset dystrophinopathy in the United States; 2002-2017. Journal of Child Neurology34(1), 088307381880170.
  2. Hilbert, J. E., Ashizawa, T., Day, J. W., Luebbe, E. A., Martens, W. B., McDermott, M. P., Tawil, R., Thornton, C. A., & Moxley, R. T., 3rd. (2013). Diagnostic odyssey of patients with myotonic dystrophy. Journal of Neurology260(10), 2497–2504.
  3. Khadilkar, S. V., Patel, B. A., & Lalkaka, J. A. (2018). Making sense of the clinical spectrum of limb girdle muscular dystrophies. Practical Neurology18(3), 201–210.
  4. Mercuri, E., Bonnemann, C. G., & Muntoni, F. (2019). Comprehensive overview of the clinical and genetic aspects of muscular dystrophies. Lancet394, 2025–2038.
  5. Kieny, P. (2012). Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011. Annals of Physical and Rehabilitation Medicine55, e206.
  6. Kesari, A., Pirra, L. N., Bremadesam, L., McIntyre, O., Gordon, E., Dubrovsky, A. L., Viswanathan, V., & Hoffman, E. P. (2008). Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Human Mutation29(5), 728–737.
  7. Bradley, W. G., Hudgson, P., Larson, P. F., Papapetropoulos, T. A., & Jenkison, M. (1972). Structural changes in the early stages of Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery, and Psychiatry35(4), 451–455.
  8. Kang, M. J., Yim, H. B., & Hwang, H. B. (2016). Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation. Indian Journal of Ophthalmology64(7), 535–537.
  9. Andrews, J. G., & Wahl, R. A. (2018). Duchenne and Becker muscular dystrophy in adolescents: current perspectives. Adolescent Health, Medicine and Therapeutics9, 53–63.
  10. Khaitan, T., Sinha, R., Sarkar, S., & Dutta, S. (2017). Duchenne muscular dystrophy: Case report and review. Journal of Family Medicine and Primary Care6(3), 654.
  11. Bertini, E., D’Amico, A., Gualandi, F., & Petrini, S. (2011). Congenital muscular dystrophies: a brief review. Seminars in Pediatric Neurology18(4), 277–288.
  12. Chawla, J. (2011). Stepwise approach to myopathy in systemic disease. Frontiers in Neurology2, 49.
  13. Olivé, M., Kley, R. A., & Goldfarb, L. G. (2013). Myofibrillar myopathies: new developments. Current Opinion in Neurology26(5), 527–535.
  14. Gupta, A., Nalini, A., Arya, S. P., Vengalil, S., Khanna, M., Krishnan, R., & Taly, A. B. (2017). Ankle-Foot orthosis in Duchenne Muscular Dystrophy: A 4 year experience in a multidisciplinary Neuromuscular disorders clinic. Indian Journal of Pediatrics84(3), 211–215.
  15. Mercuri, Eugenio, Bönnemann, C. G., & Muntoni, F. (2019). Muscular dystrophies. Lancet394(10213), 2025–2038.
  16. Mah, J. K., Selby, K., Campbell, C., Nadeau, A., Tarnopolsky, M., McCormick, A., Dooley, J. M., Kolski, H., Skalsky, A. J., Smith, R. G., Buckley, D., Ray, P. N., & Yoon, G. (2011). A population-based study of dystrophin mutations in Canada. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques38(3), 465–474.
  17. Laing, N. G. (1993). Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy. Molecular and Cell Biology of Human Diseases Series3, 37–84.
  18. Roberts, R. G., Cole, C. G., Hart, K. A., Bobrow, M., & Bentley, D. R. (1989). Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Research17(2), 811.
  19. Eagle, M., Baudouin, S. V., Chandler, C., Giddings, D. R., Bullock, R., & Bushby, K. (2002). Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscular Disorders: NMD12(10), 926–929.
  20. Talkop, U.-A., Kahre, T., Napa, A., Talvik, I., Sööt, A., Piirsoo, A., Sander, V., & Talvik, T. (2003). A descriptive epidemiological study of Duchenne muscular dystrophy in childhood in Estonia. European Journal of Paediatric Neurology: EJPN: Official Journal of the European Paediatric Neurology Society7(5), 221–226.
  21. Hoffman, E. P., Brown, R. H., Jr, & Kunkel, L. M. (1987). Dystrophin: The protein product of the duchenne muscular dystrophy locus. Cell51(6), 919–928.
  22. Klingler, W., Jurkat-Rott, K., Lehmann-Horn, F., & Schleip, R. (2012). The role of fibrosis in Duchenne muscular dystrophy. Acta Myologica: Myopathies and Cardiomyopathies31(3), 184–195.
  23. Villalta, S. A., Nguyen, H. X., Deng, B., Gotoh, T., & Tidball, J. G. (2008). Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy. Human Molecular Genetics18(3), 482–496.
  24. Yao, S., Chen, Z., Yu, Y., Zhang, N., Jiang, H., Zhang, G., Zhang, Z., & Zhang, B. (2021). Current pharmacological strategies for duchenne muscular dystrophy. Frontiers in Cell and Developmental Biology9.
  25. Sun, C., Shen, L., Zhang, Z., & Xie, X. (2020). Therapeutic strategies for Duchenne muscular dystrophy: An update. Genes11(8), 837.
  26. Min, Y.-L., Li, H., Rodriguez-Caycedo, C., Mireault, A. A., Huang, J., Shelton, J. M., McAnally, J. R., Amoasii, L., Mammen, P. P. A., Bassel-Duby, R., & Olson, E. N. (2019). CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells. Science Advances5(3).
  27. The Lancet. (2019). Muscular dystrophy: new treatments, new hopes. Lancet394(10213), 1966.
  28. Mercuri, E. (n.d.). The ever expanding spectrum of congenital muscular dystrophies.
  29. Bushby K Finkel R Birnkrant, D. J. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol9, 177–189.

30. Wang, C. H., Bonnemann, C. G., Rutkowski, A., Sejersen, T., Bellini, J., Battista, V., Florence, J. M., Schara, U., Schuler, P. M., Wahbi, K., Aloysius, A., Bash, R. O., Béroud, C., Bertini, E., Bushby, K., Cohn, R. D., Connolly, A. M., Deconinck, N., Desguerre, I., … International Standard of Care Committee for Congenital Muscular Dystrophy. (2010). Consensus statement on standard of care for congenital muscular dystrophies. Journal of Child Neurology25(12), 1559–1581.

A broad group of illnesses known as muscular dystrophies are defined by pathologic alterations found in muscle tissue following biopsy. A progressive weakening of the skeletal muscles characterises the clinical appearance of these disorders. The most common type of muscular dystrophy is Duchenne Muscular Dystrophy, an X-linked recessive disease. Distal muscular dystrophy is most common in people between the ages of 40 and 60 and primarily affects the lower limbs, such as the hands, feet, arms, and legs. The development of muscle weakness during infancy or early childhood, usually before the age of two, is a common symptom of congenital muscular dystrophy. The majority of MD types frequently result in respiratory issues that affect the diaphragm and other breathing muscles. Several MD subtypes are linked to cardiac arrhythmias or cardiomyopathy. This class of disorders is the main target of gene transfer and gene repair therapies.

Keywords : Muscular Dystrophy, Immunosuppressant, Duchenne Muscular Dystrophy, Electrocardiogram, Facioscapulohumeral Muscular Dystrophy

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