Agarwal Apoorva, Ghosh Kar Amrita, Joshi Deepika, Harshanayana Harshanayana
Pathology, Era's Lucknow Medical College and Hospital, Lucknow, IND.
Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Cureus. 2024 May 11;16(5):e60084. doi: 10.7759/cureus.60084. eCollection 2024 May.
Muscle diseases are of various types, viz., muscular dystrophies, inflammatory myopathies, myotonic disorders, congenital myopathies, and metabolic myopathies. They all present with muscle weakness, be it proximal or distal. The assessment of muscle biopsy with the help of enzyme histochemistry, histopathological, and immunohistochemical methods is an essential component in the diagnosis of neuromuscular disorders. The authors outline brief data on muscle diseases prevalent in the North Indian region.
Muscle biopsy was done, and the biopsy was freshly frozen in liquid nitrogen and sections were taken on a cryostat. Slides were then stained with hematoxylin and eosin (H&E), modified Gomori trichome (MGT), nicotinamide adenine dinucleotide hydrogenase (NADH), and succinic dehydrogenase (SDH) stains. Further specific immunohistochemistry tests were also done.
Out of n=16 cases, three cases were diagnosed as Becker's muscular dystrophy, two cases were diagnosed as inflammatory myopathy, four cases were diagnosed as Facioscapulohumeral muscular dystrophy, and one each case of dysferlinopathy and alpha sarcoglycanopathy.
Muscle diseases can cause different levels of physical disability and thus it is important to diagnose at the appropriate time to ensure proper treatment.
肌肉疾病有多种类型，即肌营养不良症、炎性肌病、强直性肌病、先天性肌病和代谢性肌病。它们都表现为肌肉无力，无论是近端还是远端。借助酶组织化学、组织病理学和免疫组织化学方法对肌肉活检进行评估是神经肌肉疾病诊断的重要组成部分。作者概述了印度北部地区常见肌肉疾病的简要数据。
进行肌肉活检，将活检组织在液氮中新鲜冷冻，然后在低温恒温器上切片。切片用苏木精和伊红（H&E）、改良戈莫里三色染色法（MGT）、烟酰胺腺嘌呤二核苷酸氢酶（NADH）和琥珀酸脱氢酶（SDH）染色。还进行了进一步的特异性免疫组织化学检测。
在n = 16例病例中，3例被诊断为贝克尔肌营养不良症，2例被诊断为炎性肌病，4例被诊断为面肩肱型肌营养不良症，各有1例被诊断为dysferlinopathy和α-肌聚糖病。
肌肉疾病可导致不同程度的身体残疾，因此在适当的时候进行诊断以确保获得恰当治疗非常重要。
