背景:肌肉疾病有各种类型,viz.,肌营养不良,炎症性肌病,肌强直性障碍,先天性肌病,和代谢性肌病。他们都表现为肌肉无力,无论是近端还是远端。在酶组织化学的帮助下评估肌肉活检,组织病理学,免疫组织化学方法是神经肌肉疾病诊断的重要组成部分。作者概述了北印度地区普遍存在的肌肉疾病的简要数据。
方法:进行肌肉活检,活检在液氮中新鲜冷冻,切片在低温恒温器上进行。然后用苏木精和伊红(H&E)对载玻片进行染色,改良的Gomori毛状体(MGT),烟酰胺腺嘌呤二核苷酸氢化酶(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测试。
结果:n=16例,3例被诊断为Becker肌营养不良症,2例诊断为炎症性肌病,4例诊断为面肩肱肌营养不良,和1例异常铁素病和α肌糖病。
结论:肌肉疾病可导致不同程度的身体残疾,因此在适当的时间进行诊断以确保适当的治疗非常重要。
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Muscle diseases can cause different levels of physical disability and thus it is important to diagnose at the appropriate time to ensure proper treatment.