背景:Duchene肌营养不良症(DMD)是一种X连锁进行性肌肉疾病,其特征是年轻男孩的近端肌肉无力,随后过早死亡。印度南部的诊断率和临床特征报告指数较低。目的本研究旨在进行观察性调查,初步分析,家族史,相关投诉,印度南部地区DMD的诊断比率。材料与方法通过问卷对2019-2021年间登记的临床确诊DMD患者进行系统观察和调查。通过探索电子数据库中已发表和未发表的研究以及医生考虑的关键评估标准,确定了问卷和研究模式。初步分析,如发病标准,电机困难,里程碑延误;家族史和血缘关系分析;主要投诉(动态状态,脊柱前凸,呼吸,和心脏结果),相关的投诉,如舌头肿大,口腔卫生,行为问题;以及其他类似的参数进行了研究。对诊断率和模式进行了评估。统计分析通过统计方法对数据进行审查和解释,平均值±标准偏差表示为百分比。结果总计,400名DMD患者纳入研究,250名患者参与研究。在37%的人口中,发病年龄组为2至5岁。86%的人出现了里程碑延迟;据报道,有39%的父母有血缘关系。在5至8岁的组中,有62%的人经常跌倒。据报道,9至12岁的轮椅状况为65%。在57%和69%的患者中看到了颈和腰的前段,分别,在13岁以上。呼吸和心脏并发症在13岁以上分别为88%和78%。分别。79%的人报告了其他主要的相关投诉,如舌头肿大。51%的人接受了遗传诊断,79%的人接受了血清肌酸磷酸激酶(CPK)分析以确认DMD。结论在本研究的南印度人口中,里程碑延迟是一个主要的观察。虽然略有差距,在大多数研究人群中,家族史显示“父母之间没有血缘关系”。主要投诉主要是严重的13岁以上年龄组人群。血清CPK是首次调查的首选,然后进行基因诊断。
Background Duchene 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. Objective The 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. Materials and Methods A 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study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians.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. Statistical analysis The data were reviewed and interpreted through statistical methods mean ± standard deviation represented as a percentage. Results In 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. Conclusion In this
study population of South India, milestone delay was a major observation. Although there was a slight margin, family history shows \"no blood relation among parents\" 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.