{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:06:36Z","timestamp":1790863596074,"version":"4.1.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"S1","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1007\/s12098-025-05975-z","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T04:47:55Z","timestamp":1772599675000},"page":"81-90","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Status of Clinical Care of Duchenne Muscular Dystrophy: Global Perspective and Situation in India"],"prefix":"10.1007","volume":"93","author":[{"given":"Aradhana","family":"Rohil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautam","family":"Kamila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheffali","family":"Gulati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"5975_CR1","unstructured":"NORD (National Organization for Rare Disorders). Duchenne Muscular Dystrophy [Internet]. Last updated 15 Jul 2024. Available at: https:\/\/rarediseases.org\/rare-diseases\/duchenne-muscular-dystrophy\/. Accessed 17 Dec 2025."},{"key":"5975_CR2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00248-3","volume":"7","author":"D Duan","year":"2021","unstructured":"Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7:13.","journal-title":"Nat Rev Dis Primers"},{"key":"5975_CR3","doi-asserted-by":"publisher","first-page":"e2304","DOI":"10.1212\/WNL.0000000000012910","volume":"97","author":"J Broomfield","year":"2021","unstructured":"Broomfield J, Hill M, Guglieri M, Crowther M, Abrams K. Life expectancy in Duchenne muscular dystrophy: reproduced individual patient data meta-analysis. Neurology. 2021;97:e2304\u201314.","journal-title":"Neurology"},{"key":"5975_CR4","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1093\/hmg\/1.1.19","volume":"1","author":"JT Den Dunnen","year":"1992","unstructured":"Den Dunnen JT, Grootscholten PM, Dauwerse JG, et al. Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum Mol Genet. 1992;1:19\u201328.","journal-title":"Hum Mol Genet"},{"key":"5975_CR5","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","volume":"51","author":"EP Hoffman Jr","year":"1987","unstructured":"Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919\u201328.","journal-title":"Cell"},{"key":"5975_CR6","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/mus.20586","volume":"34","author":"A Aartsma-Rus","year":"2006","unstructured":"Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006;34:135\u201344.","journal-title":"Muscle Nerve"},{"key":"5975_CR7","doi-asserted-by":"publisher","first-page":"282","DOI":"10.4103\/ijmr.IJMR_290_18","volume":"150","author":"S Aravind","year":"2019","unstructured":"Aravind S, Ashley B, Mannan A, et al. Targeted sequencing of the DMD locus: a comprehensive diagnostic tool for all mutations. Indian J Med Res. 2019;150:282\u20139.","journal-title":"Indian J Med Res"},{"key":"5975_CR8","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1002\/humu.22758","volume":"36","author":"CL Bladen","year":"2015","unstructured":"Bladen CL, Salgado D, Monges S, et al. The TREAT-NMD DMD global database: analysis of more than 7000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36:395\u2013402.","journal-title":"Hum Mutat"},{"key":"5975_CR9","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1007\/s13312-024-3333-7","volume":"61","author":"A Singh","year":"2024","unstructured":"Singh A, Sidar M, Ali A, Abhinay A, Prasad R, Mishra OP. Clinical and molecular profile of Duchenne muscular dystrophy (DMD): case-record analysis from Uttar Pradesh, India. Indian Pediatr. 2024;61:1119\u201322.","journal-title":"Indian Pediatr"},{"key":"5975_CR10","doi-asserted-by":"publisher","first-page":"873","DOI":"10.4103\/aian.AIAN_126_21","volume":"24","author":"M Goyal","year":"2021","unstructured":"Goyal M, Gupta A, Agarwal K, Kapoor S, Kumar S. Duchenne muscular dystrophy: genetic and clinical profile in the population of Rajasthan, India. Ann Indian Acad Neurol. 2021;24:873\u20138.","journal-title":"Ann Indian Acad Neurol"},{"key":"5975_CR11","doi-asserted-by":"publisher","first-page":"303","DOI":"10.4103\/0972-2327.138508","volume":"17","author":"MV Rao","year":"2014","unstructured":"Rao MV, Sindhav GM, Mehta JJ. Duchenne\/Becker muscular dystrophy: a report on clinical, biochemical, and genetic study in Gujarat population, India. Ann Indian Acad Neurol. 2014;17:303\u20137.","journal-title":"Ann Indian Acad Neurol"},{"key":"5975_CR12","doi-asserted-by":"publisher","first-page":"77","DOI":"10.4103\/0028-3886.222881","volume":"66","author":"RJ Singh","year":"2018","unstructured":"Singh RJ, Manjunath M, Preethish-Kumar V, et al. Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: an observational study from South India. Neurol India. 2018;66:77\u201382.","journal-title":"Neurol India"},{"key":"5975_CR13","doi-asserted-by":"publisher","first-page":"734","DOI":"10.4103\/0028-3886.59468","volume":"57","author":"B Swaminathan","year":"2009","unstructured":"Swaminathan B, Shubha GN, Shubha D, et al. Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in southern India. Neurol India. 2009;57:734\u20138.","journal-title":"Neurol India"},{"key":"5975_CR14","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1038\/jhg.2016.152","volume":"62","author":"A Nakamura","year":"2017","unstructured":"Nakamura A, Shiba N, Miyazaki D, et al. Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy. J Hum Genet. 2017;62:459\u201363.","journal-title":"J Hum Genet"},{"key":"5975_CR15","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","volume":"53","author":"A Aartsma-Rus","year":"2016","unstructured":"Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016;53:145\u201351.","journal-title":"J Med Genet"},{"key":"5975_CR16","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","volume":"13","author":"T Lalic","year":"2005","unstructured":"Lalic T, Vossen RH, Coffa J, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet. 2005;13:1231\u20134.","journal-title":"Eur J Hum Genet"},{"key":"5975_CR17","doi-asserted-by":"publisher","DOI":"10.3390\/genes11080837","volume":"11","author":"C Sun","year":"2020","unstructured":"Sun C, Shen L, Zhang Z, Xie X. Therapeutic strategies for Duchenne muscular dystrophy: an update. Genes. 2020;11:837.","journal-title":"Genes"},{"key":"5975_CR18","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1016\/j.clineuro.2009.01.011","volume":"111","author":"N Tanveer","year":"2009","unstructured":"Tanveer N, Sharma MC, Sarkar C, et al. Diagnostic utility of skin biopsy in dystrophinopathies. Clin Neurol Neurosurg. 2009;111:496\u2013502.","journal-title":"Clin Neurol Neurosurg"},{"key":"5975_CR19","doi-asserted-by":"publisher","first-page":"58","DOI":"10.4103\/0028-3886.152635","volume":"63","author":"M Manjunath","year":"2015","unstructured":"Manjunath M, Kiran P, Preethish-Kumar V, Nalini A, Singh RJ, Gayathri N. A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study. Neurol India. 2015;63:58\u201362.","journal-title":"Neurol India"},{"key":"5975_CR20","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1016\/j.nmd.2018.04.005","volume":"28","author":"M Ishizaki","year":"2018","unstructured":"Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E. Female dystrophinopathy: review of current literature. Neuromuscul Disord. 2018;28:572\u201381.","journal-title":"Neuromuscul Disord"},{"key":"5975_CR21","doi-asserted-by":"publisher","first-page":"689","DOI":"10.4103\/ijmr.IJMR_1788_15","volume":"146","author":"SR Phadke","year":"2017","unstructured":"Phadke SR, Puri RD, Ranganath P. Prenatal screening for genetic disorders: suggested guidelines for the Indian scenario. Indian J Med Res. 2017;146:689\u201399.","journal-title":"Indian J Med Res"},{"key":"5975_CR22","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1007\/s12098-017-2397-y","volume":"85","author":"R Suthar","year":"2018","unstructured":"Suthar R, Sankhyan N. Duchenne muscular dystrophy: a practice update. Indian J Pediatr. 2018;85:276\u201381.","journal-title":"Indian J Pediatr"},{"key":"5975_CR23","doi-asserted-by":"crossref","unstructured":"Bushby K, Finkel R, Birnkrant DJ, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77\u201393.","DOI":"10.1016\/S1474-4422(09)70271-6"},{"key":"5975_CR24","doi-asserted-by":"crossref","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17:347\u201361.","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"5975_CR25","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1007\/BF02731732","volume":"72","author":"S Gulati","year":"2005","unstructured":"Gulati S, Saxena A, Kumar V, Kalra V. Duchenne muscular dystrophy: prevalence and patterns of cardiac involvement. Indian J Pediatr. 2005;72:389\u201393.","journal-title":"Indian J Pediatr"},{"key":"5975_CR26","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.689533","volume":"9","author":"S Yao","year":"2021","unstructured":"Yao S, Chen Z, Yu Y, et al. Current pharmacological strategies for Duchenne muscular dystrophy. Front Cell Dev Biol. 2021;9:689533.","journal-title":"Front Cell Dev Biol"},{"key":"5975_CR27","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1007\/s00415-006-0212-1","volume":"253","author":"S Pradhan","year":"2006","unstructured":"Pradhan S, Ghosh D, Srivastava NK, et al. Prednisolone in Duchenne muscular dystrophy with imminent loss of ambulation. J Neurol. 2006;253:1309\u201316.","journal-title":"J Neurol"},{"key":"5975_CR28","volume":"5","author":"E Matthews","year":"2016","unstructured":"Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016;5:CD003725.","journal-title":"Cochrane Database Syst Rev"},{"key":"5975_CR29","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1212\/WNL.0000000000002337","volume":"86","author":"D Gloss","year":"2016","unstructured":"Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy [RETIRED]: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016;86:465\u201372. Retraction in: Neurology. 2025;104;e213572.","journal-title":"Neurology"},{"key":"5975_CR30","first-page":"80","volume":"84","author":"NC Sattenapalli","year":"2022","unstructured":"Sattenapalli NC, Areti AR, Gudhanti SNKR, Kulandivelu U, Alavala RR. Steroid versus non-steroid regimen in treating Duchenne muscular dystrophy: an observational study from South India. Indian J Pharm Sci. 2022;84:80\u20136.","journal-title":"Indian J Pharm Sci"},{"key":"5975_CR31","doi-asserted-by":"publisher","first-page":"S1847","DOI":"10.1212\/WNL.96.15_supplement.1847","volume":"96","author":"C Reddy","year":"2021","unstructured":"Reddy C, Suthar R, Patil A, et al. Randomized, double-blind controlled trial assessing the dose response and safety of deflazacort in boys with Duchenne muscular dystrophy (1847). Neurology. 2021;96:S1847.","journal-title":"Neurology."},{"key":"5975_CR32","doi-asserted-by":"crossref","unstructured":"Shieh PB, Elfring G, Trifillis P, et al; Members of the Ataluren Phase IIb Study Group; Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group; Members of the ACT DMD Study Group; Members of the ACT DMD C linical Evaluator Training Group. Meta-analyses of deflazacort versus prednisone\/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2021;10:1337\u201347.","DOI":"10.2217\/cer-2021-0018"},{"key":"5975_CR33","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1212\/WNL.0000000000003217","volume":"87","author":"RC Griggs","year":"2016","unstructured":"Griggs RC, Miller JP, Greenberg CR, et al. Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology. 2016;87:2123\u201331.","journal-title":"Neurology."},{"key":"5975_CR34","doi-asserted-by":"publisher","first-page":"463","DOI":"10.3233\/JND-210776","volume":"9","author":"WD Biggar","year":"2022","unstructured":"Biggar WD, Skalsky A, McDonald CM. Comparing deflazacort and prednisone in Duchenne muscular dystrophy. J Neuromuscul Dis. 2022;9:463\u201376.","journal-title":"J Neuromuscul Dis"},{"key":"5975_CR35","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1093\/hmg\/ddad173","volume":"33","author":"G Liu","year":"2024","unstructured":"Liu G, Lipari P, Mollin A, et al. Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models. Hum Mol Genet. 2024;33:211\u201323.","journal-title":"Hum Mol Genet"},{"key":"5975_CR36","doi-asserted-by":"publisher","first-page":"S70","DOI":"10.1016\/j.nmd.2022.07.119","volume":"32","author":"L Ward","year":"2022","unstructured":"Ward L, Rao V, Leinonen M, et al. For-DMD and CINRG Investigators.P.71 Vamorolone has less impact than daily prednisone or deflazacort on height and body mass index in patients with Duchenne muscular dystrophy (DMD). Neuromuscul Disord. 2022;32:S70.","journal-title":"Neuromuscul Disord"},{"key":"5975_CR37","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1001\/jamaneurol.2022.2480","volume":"79","author":"M Guglieri","year":"2022","unstructured":"Guglieri M, Clemens PR, Perlman SJ, et al. Efficacy and safety of vamorolone vs placebo and prednisone among boys with Duchenne muscular dystrophy: a randomized clinical trial. JAMA Neurol. 2022;79:1005\u201314.","journal-title":"JAMA Neurol"},{"key":"5975_CR38","volume-title":"DUVYZAT (Givinostat) Oral suspension prescribing information","author":"U.S. Food and Drug Administration","year":"2024","unstructured":"U.S. Food and Drug Administration. DUVYZAT (Givinostat) Oral Suspension Prescribing Information. Silver Spring, MD: FDA; 2024. Available at: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2024\/217865Orig1s000lbl.pdf. Accessed 17 Dec 2025."},{"key":"5975_CR39","unstructured":"U.S. Food and Drug Administration. ELEVIDYS (Delandistrogene Moxeparvovec-Rokl) prescribing information. Silver Spring, MD: FDA; 2023. Available at: https:\/\/www.fda.gov\/media\/169679\/download. Accessed 17 Dec 2025"},{"key":"5975_CR40","volume-title":"Sarepta and Roche announce positive topline results from EMBARK, the first double-blind, placebo-controlled phase 3 trial of gene therapy for Duchenne muscular dystrophy","author":"Sarepta Therapeutics","year":"2024","unstructured":"Sarepta Therapeutics. Sarepta and Roche Announce Positive Topline Results from EMBARK, the First Double-Blind, Placebo-Controlled Phase 3 Trial of Gene Therapy for Duchenne Muscular Dystrophy [Internet]. 2024. Available at: https:\/\/www.roche.com\/media\/releases\/med-cor-2025-01-27. Accessed 4 Aug\u00a0 2025."},{"key":"5975_CR41","unstructured":"Reuters. FDA Investigates Patient Deaths after Treatment with Sarepta's Gene Therapy [Internet]. 2025. Available at: https:\/\/www.reuters.com\/business\/healthcarepharmaceuticals\/fda-investigates-patient-deaths-after-treatment-with-sareptas-gene-therapy-2025-06-24. Accessed 4 Aug 2025."},{"key":"5975_CR42","volume-title":"REGENXBIO Initiates Pivotal Phase of AFFINITY DUCHENNE\u00ae Trial of RGX-202 Gene Therapy and Reports Positive Functional Data","author":"REGENXBIO; Parent Project Muscular Dystrophy","year":"2024","unstructured":"REGENXBIO; Parent Project Muscular Dystrophy. REGENXBIO Initiates Pivotal Phase of AFFINITY DUCHENNE\u00ae Trial of RGX-202 Gene Therapy and Reports Positive Functional Data [Internet]. REGENXBIO; 2024. Available at: https:\/\/regenxbio.gcs-web.com\/news-releases\/news-release-details\/regenxbio-initiates-pivotal-phase-affinity-duchenner-trial-rgx-202-gene-therapy-and-reports-positive-functional-data-302307989.html. Accessed 4 Aug 2025."},{"key":"5975_CR43","volume-title":"Evidence-based status of stem cell therapy for autism Spectrum disorder","author":"Indian Council of Medical Research (ICMR)","year":"2024","unstructured":"Indian Council of Medical Research (ICMR). Evidence-Based Status of Stem Cell Therapy for Autism Spectrum Disorder. New Delhi: ICMR; 2024. Available at: https:\/\/www.icmr.gov.in\/icmrobject\/custom_data\/pdf\/resource-guidelines\/Evidence_Based_Status_of_SCT_for_Autism_Spectrum_Disorder.pdf"},{"key":"5975_CR44","volume-title":"Indian Researchers Developing Treatment for Rare Genetic Disorder 'Duchenne Muscular Dystrophy'","author":"The Hindu","year":"2023","unstructured":"The Hindu. Indian Researchers Developing Treatment for Rare Genetic Disorder 'Duchenne Muscular Dystrophy'. The Hindu: Chennai; 2023. Available at: https:\/\/www.thehindu.com\/sci-tech\/science\/indian-researchers-developing-treatment-for-rare-genetic-disorder-duchenne-muscular-dystrophy\/article66352754.ece. Accessed 4 Aug 2025."},{"key":"5975_CR45","unstructured":"Ministry of Health and Family Welfare, Government of India. National Policy for Rare Diseases (NPRD) 2021. 2021. Available at: https:\/\/rarediseases.mohfw.gov.in\/uploads\/Content\/1624967837_Final-NPRD-2021.pdf. Accessed 14 Mar 2025."}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-025-05975-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-025-05975-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-025-05975-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T20:01:45Z","timestamp":1785614505000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-025-05975-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,4]]},"references-count":45,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["5975"],"URL":"https:\/\/doi.org\/10.1007\/s12098-025-05975-z","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,4]]},"assertion":[{"value":"8 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"None.","order":1,"name":"Ethics","label":"Conflict of Interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}