Duchenne Muscular Dystrophy: Therapies, Challenges and Research Frontiers
Tajuddin Shaik
Department of Pharmacology, Malla Reddy College of Pharmacy, Hyderabad, Telangana, India.
S.N.V.L Sirisha
Department of Pharmacology, Malla Reddy College of Pharmacy, Hyderabad, Telangana, India.
Padi Akhila *
Department of Pharmacology, Malla Reddy College of Pharmacy, Hyderabad, Telangana, India.
*Author to whom correspondence should be addressed.
Abstract
Background: Duchenne Muscular Dystrophy (DMD), a severe X-linked neuromuscular disease caused by mutation of DMD gene that results in progressive muscle degradation and loss of ambulation. Although it mainly affects men, female carriers may also exhibit a range of symptoms.
Methods: Evaluation of the literature was carried out using up-to-date clinical and scientific sources. Studies that addressed important facets of DMD, such as diagnosis, treatment approaches, connections between genotype and phenotype, and new therapeutic advancements, were accepted. Peer-reviewed publications, regulatory databases, and published clinical guidelines served as the sources.
Results: DMD usually manifests as delayed milestones, calf hypertrophy, and proximal muscular weakness in children aged 2 to 5. Elevated serum creatine kinase (CK), genetic testing for DMD mutations, and dystrophin protein analysis are the three main methods used to make the diagnosis. The cornerstone of treatment is still corticosteroids like prednisone, deflazacort, and vamorolone, which have been shown to help postpone the loss of ambulation and maintain cardiac and pulmonary function. Eteplirsen, golodirsen, viltolarsen, and casimersen are examples of exon-skipping medicines that target particular mutations in the DMD gene and encourage the synthesis of a shortened but functional dystrophin protein. Although gene therapy with adeno-associated virus (AAV) vectors to deliver microdystrophin has obstacles such as immunological response and dosage limits, it also offers the possibility of longer-term benefit.
Conclusion: Advances in corticosteroid therapy and molecular approaches such as exon skipping and gene therapy are reshaping the DMD treatment landscape. While clinical outcomes are improving, variability in therapeutic response, mutation-specific limitations, and access to novel therapies remain key challenges.
Further research is needed to assess long-term safety, cardiac efficacy, and real-world effectiveness of emerging treatments.
Keywords: Duchenne muscular dystrophy, corticosteroids, exon skipping, gene therapy, microdystrophin, neuromuscular disorders