Muscular Dystrophy and Molecular Genetic Analysis
Author Affiliations
- 1Head Department of Physical Education and Sports, Nehru Arts, Science and Commerce College Hubballi Karnataka, India
Res. J. of Physical Education Sci., Volume 13, Issue (1), Pages 1-6, November,23 (2025)
Abstract
Muscular dystrophy (MD) comprises a group of genetically inherited disorders characterized by progressive muscle weakness and degeneration. Understanding the underlying molecular genetic mechanisms associated with different forms of MD is essential for accurate diagnosis, prognosis, and the development of targeted therapeutic interventions. This research paper provides a comprehensive review of the current understanding of MD, focusing on the molecular genetic analysis techniques employed in its diagnosis and characterization. Various genetic testing methods, including next-generation sequencing (NGS), polymerase chain reaction (PCR), and multiplex ligation-dependent probe amplification (MLPA), are discussed in the context of identifying causative mutations and elucidating genotype-phenotype correlations. Advances in molecular genetic analysis have revolutionized the diagnosis and classification of MD, enabling the identification of specific gene mutations responsible for different subtypes of the disease. Through molecular genetic testing, clinicians can accurately diagnose MD, predict disease progression, and provide personalized treatment strategies tailored to individual patients' genetic profiles. Molecular genetic analysis plays a crucial role in the diagnosis, prognosis, and management of muscular dystrophy. By elucidating the underlying genetic abnormalities associated with MD, clinicians can provide timely and targeted interventions to improve patient outcomes and quality of life. Continued research efforts aimed at further understanding the molecular basis of MD hold promise for the development of novel therapeutic approaches and potential cures for this debilitating condition.
References
- Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Brumbaugh, D., ... & Weber, D. R. (2018)., Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management., The Lancet Neurology, 17(3), 251-267.
- Mendell, J. R., & LloydâPuryear, M. (2013)., Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy., Muscle & nerve, 48(1), 21-26.
- Bushby, K. M. D., Thambyayah, M., & Gardner-Medwin, D. (1991)., Prevalence and incidence of Becker muscular dystrophy., The Lancet, 337(8748), 1022-1024.
- Emery, A. E. (1983)., Elements of medical genetics.,
- Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987)., Dystrophin: the protein product of the Duchenne muscular dystrophy locus., Cell, 51(6), 919-928.
- Voet, D., Voet, J. G., & Pratt, C. W. (2016)., Fundamentals of biochemistry: life at the molecular level., John Wiley & Sons.
- Flanigan, K. M. (2012)., The muscular dystrophies., In Seminars in Neurology (Vol. 32, No. 03, pp. 255-263). Thieme Medical Publishers.
- Savarese, M., Di Fruscio, G., Torella, A., Fiorillo, C., Magri, F., Fanin, M., ... & Nigro, V. (2016)., The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients., Neurology, 87(1), 71-76.
- Disorders/Muscular-Dystrophy-Information-Page Kehne, J. H., Klein, B. D., Raeissi, S., & Sharma, S. (2017)., The national institute of neurological disorders and stroke (NINDS) epilepsy therapy screening program (ETSP)., Neurochemical research, 42(7), 1894-1903.
