{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T13:35:38Z","timestamp":1780493738491,"version":"3.54.1"},"reference-count":29,"publisher":"Scientific Scholar","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ruralneuropractice.com"],"crossmark-restriction":true},"short-container-title":["JNRP"],"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>\n<jats:bold>Background<\/jats:bold>\u2003The diagnosis of muscular dystrophies involves clinical discretion substantiated by dystrophic changes on muscle biopsy. The different subtypes of muscular dystrophy can be diagnosed using techniques to identify the loss of protein or molecular alterations.<\/jats:p>\n<jats:p>\n<jats:bold>Materials and Methods<\/jats:bold>\u2003Clinically suspicious cases confirmed to have muscular dystrophy on muscle biopsy seen at two tertiary care centers in North India were enrolled for the study. Immunohistochemistry (IHC) for dystrophin, merosin, sarcoglycan, emerin, and dysferlin proteins was performed. The spectrum of muscular dystrophies diagnosed was analyzed. Cost of diagnosing the cases using IHC was estimated and compared with that of standard molecular tests available for the diagnosis of muscular dystrophies.<\/jats:p>\n<jats:p>\n<jats:bold>Statistics<\/jats:bold>\u2003Descriptive statistics were used for data analysis. Mean and standard deviations were used for continuous variables, whereas categorical variables were analyzed using frequency percentage.<\/jats:p>\n<jats:p>\n<jats:bold>Results<\/jats:bold>\u2003A total of 47 cases of muscular dystrophies were studied. This included nine cases of Duchenne, three cases of Becker\u2019s dystrophy, and one dystrophinopathy carrier. One case of \u03b1, seven cases of \u03b2, and two cases of \u03b4 sarcoglycanopathy, along with two cases of facioscapulohumeral dystrophy and a single case of dysferlinopathy were detected. Genetic studies were required for a subset of 16 cases. The cost of using muscle biopsy and IHC was substantially lower than that of molecular methods for the identification of muscular dystrophy subtypes.<\/jats:p>\n<jats:p>\n<jats:bold>Conclusion<\/jats:bold>\u2003We detailed an algorithmic approach for diagnosing muscular dystrophies using muscle biopsy. The prevalence of biopsy proven muscular dystrophies from two tertiary care centers in North India is compared with that from other centers. Genetic studies are currently of limited availability in India and are more expensive as compared with biopsy and IHC. Using these methodologies sequentially with a \u201cbiopsy first approach\u201d may be the prudent approach for low-income countries.<\/jats:p>","DOI":"10.1055\/s-0040-1713301","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T22:41:02Z","timestamp":1592001662000},"page":"420-429","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study"],"prefix":"10.25259","volume":"11","author":[{"given":"Pallavi","family":"Srivastava","sequence":"first","affiliation":[{"name":"Department of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran Preet","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dr. Ram Manohar Lohia Institute of 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