Significant progress has been achieved in understanding Duchenne muscular dystrophy (DMD) mechanisms and developing treatments to slow disease progression. This review article thoroughly assesses primary and secondary DMD therapies, focusing on innovative modalities. The primary therapy addresses the genetic abnormality causing DMD, specifically the absence or reduced expression of dystrophin. Gene replacement therapies, such as exon skipping, readthrough, and gene editing technologies, show promise in restoring dystrophin expression. Adeno-associated viruses (AAVs), a recent advancement in viral vector-based gene therapies, have shown encouraging results in preclinical and clinical studies. Secondary therapies aim to maintain muscle function and improve quality of life by mitigating DMD symptoms and complications. Glucocorticoid drugs like prednisone and deflazacort have proven effective in slowing disease progression and delaying loss of ambulation. Supportive treatments targeting calcium dysregulation, histone deacetylase, and redox imbalance are also crucial for preserving overall health and function. Additionally, the review includes a detailed table of ongoing and approved clinical trials for DMD, exploring various therapeutic approaches such as gene therapies, exon skipping drugs, utrophin modulators, anti-inflammatory agents, and novel compounds. This highlights the dynamic research field and ongoing efforts to develop effective DMD treatments.

Background: Meralgia paresthetica (MP), a common entrapment syndrome, presents with paresthesias in the anterolateral aspect of the thigh. Clinical tests used to diagnose MP are the pelvic compression test, neurodynamic testing, and Tinel’s sign. The diagnostic accuracy of these three tests has not been analyzed to date. Hence, this study aims to analyze the sensitivity and specificity of these clinical tests.Case Study: This study was a hospital‐based case‐control study that included 30 electrophysiologically proven patients with MP. The data were gathered over a period of 6 months after obtaining institutional ethics committee clearance. Demographics and risk factors among our cases are in keeping with the global scenario. The sensitivity and specificity of the pelvic compression test were 86.7% and 93.0%, the Tinsel sign was 85.1% and 87.5%, and neurodynamic testing was 86.7% and 93.0%, respectively.Conclusion: Our study proves that these tests are a simple and accurate aid in the diagnosis of MP. These bedside clinical tests can be utilized to establish a diagnosis of MP in a setting of conflicting differentials such as lumbar canal stenosis or thoracolumbar junction disc pathologies and guide in choosing the next line of investigation.

Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality. Although corticosteroids and gene therapies have improved disease management, they are limited by significant side effects, mutation specificity and delivery challenges, underscoring the need for an alternative or an adjunctive strategy. Emerging evidence identifies autophagy dysregulation as a critical secondary pathological mechanism in DMD, contributing to impaired clearance of damaged organelles and toxic protein aggregates, exacerbating muscle atrophy and fibrosis. This review aims to acknowledge current insights into autophagy regulation in healthy muscle and its disruption in DMD, explore its crosstalk with key pathological pathways such as nuclear factor kappa B signalling, mitochondrial dysfunction and endoplasmic reticulum stress and critically evaluate emerging therapeutic strategies targeting autophagy. Autophagy, a fundamental cellular recycling process, is suppressed in DMD by hyperactivation of the Akt-mTOR pathway and dysregulated calcium homeostasis. This leads to mitochondrial dysfunction, oxidative stress and activation of inflammatory cascades. Recent preclinical studies highlight the therapeutic potential of pharmacological and dietary autophagy modulators, including rapamycin, 5-aminoimidazole-4-carboxamide ribonucleotide, low protein diets, SRT2104 and Givinostat, which improve autophagic flux, restore mitochondrial integrity and attenuate fibrosis. Lifestyle interventions and combinatorial approaches further underscore the importance of integrating multimodal strategies. Further research should focus on longitudinal studies to optimise therapeutic timing, validate dynamic biomarkers (LC-II, p62, miRNAs) and leverage artificial intelligence with multiomics integration for precision therapies. Targeting autophagy and its interconnected pathways holds promise for transforming DMD management and improving patient outcomes.

Rare diseases affect an estimated 350 million people worldwide, over 80% of which have a genetic basis. In India, diverse genetic backgrounds, high consanguinity and uneven access to healthcare complicate diagnosis and management. This review highlights the expanding role of genetic counselling in addressing these challenges through risk assessment, patient education and psychosocial support. It also discusses technological enablers such as artificial intelligence, telemedicine and digital counselling tools that can extend access to underserved populations and assist counsellors in variant interpretation, data management and patient communication. The manuscript focuses on strengthening India’s genetic counselling framework through culturally sensitive practices, improved training and responsible integration of emerging technologies. It underscores the importance of interdisciplinary collaboration, policy reform and public awareness to achieve equitable and sustainable rare disease care in low-resource settings.