{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,6]],"date-time":"2023-08-06T04:03:20Z","timestamp":1691294600565},"reference-count":18,"publisher":"Scientific Scholar","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"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>\u2003Duchene muscular dystrophy (DMD) is an X-linked progressive muscle disorder that is characterized by proximal muscle weakness followed by a premature death in young boys. There is a low index of reports on diagnosis ratio and clinical features in Southern India.<\/jats:p>\n<jats:p>\n<jats:bold>Objective<\/jats:bold>\u2003The present study aimed to conduct an observational survey on preliminary analysis, family history, associated complaints, and diagnosis ratio of DMD in southern regions of India.<\/jats:p>\n<jats:p>\n<jats:bold>Materials and Methods<\/jats:bold>\u2003A systematic observation and survey were conducted on clinically confirmed DMD patients registered between 2019 and 2021 through the questionnaire. The questionnaire and pattern of study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians. Preliminary analysis such as onset criteria, motor difficulties, milestone delay; family history and consanguinity analysis; chief complaints (ambulatory status, lordosis, respiratory, and cardiac outcomes), associated complaints such as enlarged tongue, oral hygiene, behavioral problems; and other similar parameters were studied. An assessment of the diagnosis rate and pattern was performed.<\/jats:p>\n<jats:p>\n<jats:bold>Statistical analysis<\/jats:bold>\u2003The data were reviewed and interpreted through statistical methods mean\u2009\u00b1\u2009standard deviation represented as a percentage.<\/jats:p>\n<jats:p>\n<jats:bold>Results<\/jats:bold>\u2003In total, 400 DMD patients were included and 250 participated in the study. The onset age group was 2 to 5 years in 37% of the population. Milestone delay was seen in 86%; consanguinity marriage of parents was reported in 39%. Frequent falls were reported in 62% in 5 to 8 years old group. Wheelchair status was reported in 65% in 9 to 12 years old. Cervical and lumbar lordoses were seen in 57 and 69%, respectively, in above 13 years old. Respiratory and cardiac complications were 88 and 78% reported in above 13 years old, respectively. Other major associated complaints such as enlarged tongue were reported in 79%. Fifty-one percent underwent genetic diagnosis and 79% of the population underwent serum creatine phosphokinase (CPK) analysis for the confirmation of DMD.<\/jats:p>\n<jats:p>\n<jats:bold>Conclusion<\/jats:bold>\u2003In this study population of South India, milestone delay was a major observation. Although there was a slight margin, family history shows \u201cno blood relation among parents\u201d in the majority of the study population. Chief complaints were predominantly severe above 13-year age group population. Serum CPK was the first choice for the first investigation, which is followed by a genetic diagnosis.<\/jats:p>","DOI":"10.1055\/s-0041-1740614","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T23:50:36Z","timestamp":1641426636000},"page":"43-49","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India"],"prefix":"10.25259","volume":"13","author":[{"given":"Nigama Chandra","family":"Sattenapalli","sequence":"first","affiliation":[{"name":"Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anka Rao","family":"Areti","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.N. Koteswara Rao","family":"G.","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uma Sankar","family":"Kulandaivelu","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajasekhar Reddy","family":"Alavala","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Manne","sequence":"additional","affiliation":[{"name":"Department of QA and QC, Chemtex Environmental Lab 3082, Port Arthur, Texas, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"10.1055\/s-0041-1740614\/ref-1","first-page":"10","article-title":"A pilot survey study of adherence to care considerations for Duchenne muscular dystrophy","volume":"10","author":"Conway","year":"2018","journal-title":"PLoS Curr"},{"issue":"3","key":"10.1055\/s-0041-1740614\/ref-2","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and Becker muscular dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol Clin"},{"issue":"3","key":"10.1055\/s-0041-1740614\/ref-3","doi-asserted-by":"crossref","first-page":"236","DOI":"10.4103\/0028-3886.43441","article-title":"Duchenne muscular dystrophy","volume":"56","author":"Yiu","year":"2008","journal-title":"Neurol India"},{"issue":"3","key":"10.1055\/s-0041-1740614\/ref-4","doi-asserted-by":"crossref","first-page":"654","DOI":"10.4103\/2249-4863.222015","article-title":"Duchenne muscular dystrophy: case report and review","volume":"6","author":"Sinha","year":"2017","journal-title":"J Family Med Prim Care"},{"issue":"2","key":"10.1055\/s-0041-1740614\/ref-5","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.nmd.2008.10.011","article-title":"Dystrophin gene analysis in Hungarian Duchenne\/Becker muscular dystrophy families\u2014detection of carrier status in symptomatic and asymptomatic female relatives","volume":"19","author":"Pik\u00f3","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1055\/s-0041-1740614\/ref-6","article-title":"Dystrophinopathies","author":"Darras","year":"2000"},{"issue":"8","key":"10.1055\/s-0041-1740614\/ref-7","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.nmd.2019.06.004","article-title":"Muscle biopsies in clinical trials for Duchenne muscular dystrophy\u2014patients' and caregivers' perspective","volume":"29","author":"Verhaart","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1055\/s-0041-1740614\/ref-8","first-page":"364","article-title":"From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy","volume":"146","author":"den Dunnen","year":"2002","journal-title":"Ned Tijdschr Geneeskd"},{"issue":"3","key":"10.1055\/s-0041-1740614\/ref-9","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1542\/peds.2014-2044","article-title":"Prevalence of Duchenne and Becker muscular dystrophies in the United States","volume":"135","author":"Romitti","year":"2015","journal-title":"Pediatrics"},{"key":"10.1055\/s-0041-1740614\/ref-10","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1093\/brain\/119.5.1471","article-title":"The clinical spectrum of limb girdle muscular dystrophy. 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