Srivastava Pallavi, Malhotra Kiran Preet, Husain Nuzhat, Malhotra Hardeep Singh, Kulshreshtha Dinkar, Anand Akanksha
Department of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India.
J Neurosci Rural Pract. 2020 Jul;11(3):420-429. doi: 10.1055/s-0040-1713301. Epub 2020 Jun 12.
The 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. Clinically 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. Descriptive statistics were used for data analysis. Mean and standard deviations were used for continuous variables, whereas categorical variables were analyzed using frequency percentage. A total of 47 cases of muscular dystrophies were studied. This included nine cases of Duchenne, three cases of Becker's dystrophy, and one dystrophinopathy carrier. One case of α, seven cases of β, and two cases of δ 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. We 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 "biopsy first approach" may be the prudent approach for low-income countries.
肌营养不良症的诊断需要临床判断，并通过肌肉活检中的营养不良性改变来证实。可以使用识别蛋白质缺失或分子改变的技术来诊断不同亚型的肌营养不良症。
在印度北部的两个三级医疗中心，对临床疑似且经肌肉活检确诊为肌营养不良症的病例进行了研究。对肌营养不良蛋白、merosin、肌聚糖、emerin和dysferlin蛋白进行了免疫组织化学（IHC）检测。分析了所诊断的肌营养不良症的范围。估计了使用IHC诊断病例的成本，并与可用于诊断肌营养不良症的标准分子检测成本进行了比较。
使用描述性统计进行数据分析。连续变量使用均值和标准差，分类变量使用频率百分比进行分析。
共研究了47例肌营养不良症病例。其中包括9例杜氏肌营养不良症、3例贝克肌营养不良症和1例肌营养不良蛋白病携带者。检测到1例α-肌聚糖病、7例β-肌聚糖病、2例δ-肌聚糖病，以及2例面肩肱型肌营养不良症和1例dysferlin病。16例病例需要进行基因研究。使用肌肉活检和IHC的成本大大低于用于识别肌营养不良症亚型的分子方法。
我们详细介绍了一种使用肌肉活检诊断肌营养不良症的算法方法。将印度北部两个三级医疗中心经活检证实的肌营养不良症患病率与其他中心的患病率进行了比较。目前在印度，基因研究的可用性有限，与活检和IHC相比成本更高。在低收入国家，采用“先活检”的方法依次使用这些方法可能是谨慎的做法。
