Sattenapalli Nigama Chandra, Areti Anka Rao, G S N Koteswara Rao, Kulandaivelu Uma Sankar, Alavala Rajasekhar Reddy, Manne Ravi
Department of Pharmacy, KL College of Pharmacy, Koneru Lakshmaiah Education Foundation, Guntur, Andhra Pradesh, India.
Department of QA and QC, Chemtex Environmental Lab 3082, Port Arthur, Texas, United States.
J Neurosci Rural Pract. 2022 Jan 5;13(1):43-49. doi: 10.1055/s-0041-1740614. eCollection 2022 Jan.
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. 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. 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 The questionnaire and pattern of study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians.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. The data were reviewed and interpreted through statistical methods mean ± standard deviation represented as a percentage. 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. 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.
杜氏肌营养不良症(DMD)是一种X连锁的进行性肌肉疾病,其特征为近端肌无力,患病男童往往英年早逝。印度南部关于该病诊断率及临床特征的报告较少。
本研究旨在对印度南部地区DMD的初步分析、家族史、相关症状及诊断率进行观察性调查。
通过问卷调查,对2019年至2021年间临床确诊的DMD患者进行了系统观察和调查。通过检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。研究了诸如发病标准、运动困难、发育里程碑延迟等初步分析;家族史和近亲结婚分析;主要症状(行走状态、脊柱前凸、呼吸和心脏情况)、相关症状如舌头肿大、口腔卫生、行为问题;以及其他类似参数。对诊断率和模式进行了评估。
通过统计方法(均值±标准差,以百分比表示)对数据进行审查和解释。
总共纳入了400名DMD患者,其中250名参与了研究。37%的患者发病年龄在2至5岁。86%的患者有发育里程碑延迟;39%的患者父母为近亲结婚。5至8岁组中62%的患者经常跌倒。9至12岁组中65%的患者需要使用轮椅。13岁以上患者中,颈椎和腰椎脊柱前凸的发生率分别为57%和69%。13岁以上患者呼吸和心脏并发症的发生率分别为88%和78%。79%的患者有其他主要相关症状如舌头肿大。51%的患者接受了基因诊断,79%的患者接受了血清肌酸磷酸激酶(CPK)分析以确诊DMD。
在印度南部的这个研究群体中,发育里程碑延迟是一个主要观察结果。虽然有细微差别,但家族史显示大多数研究群体的父母“无血缘关系”。主要症状在13岁以上年龄组人群中最为严重。血清CPK是首次检查的首选,其次是基因诊断。