强直性肌营养不良临床、电生理和肌肉病理表现分析

Analysis of Clinical,Electrophysiological and Muscle Pathological Manifestations of Myotonic Muscular Dystrophy

目的探究强直性肌营养不良临床、电生理以及肌肉病理的表现。方法采用回顾性分析法,对2019年6月—2021年2月来源于一个罹患家系的11例患者的临床、电生理以及肌肉病理的表现进行系统性分析。结果患者的临床表现主要为肌强直、肌无力及肌萎缩等症状,在首发症状中,表现较多的为四肢无力,有36.36%患者有此表现,主要体征表现为肢体肌力下降、握拳后不能立即伸开等、肌肉萎缩等,其中90.91%的患者出现了不同程度的肢体肌力下降的情况,而肌力远端重于近端则占到了45.45%;肌电图检查均表现为肌源性改变,且同时检查出各位置处肌肉均存在不同程度的肌强直放电现象;肌肉病理检查主要表现为肌纤维的大小、形状不等,核内移、链状核形成、肌纤维萎缩等情况,肌肉活检病理检查能够对患者的肌纤维病变状况有显示,其进行染色检查后不同病情的患者肌纤维染色情况之间有一定的差异;Ⅰ型纤维的面积为(4758.2±208.2)μm^(2)、Ⅱ型肌纤维(7859.5±276.9)μm^(2),差异有统计学意义(t=29.690,P<0.001);Ⅰ型纤维周长为(251.3±60.3)μm、Ⅱ型肌纤维(315.3±62.8)μm,差异有统计学意义(t=2.438,P=0.024);Ⅰ型纤维等效圆直径为(72.1±19.4)μm、Ⅱ型肌纤维(90.7±17.2)μm,差异有统计学意义(t=2.379,P=0.027);Ⅰ型纤维最大直径为(90.8±18.4)μm、Ⅱ型肌纤维(110.2±20.3)μm,差异有统计学意义(t=2.348,P=0.029);Ⅰ型纤维最小直径为(39.2±17.8)μm、Ⅱ型肌纤维(59.4±20.1)μm,差异有统计学意义(t=2.495,P=0.021);核内移占比的平均值为(0.4789±0.1796)。结论强直性肌营养不良患者的临床表现较为复杂,且症状表现较多,其中肌肉萎缩、肢体无力等为主要的症状表现,且伴有多系统受累,电生理检查及肌肉活检病理检查是强直性肌营养不良重要的诊断依据,强直性肌营养不良患者有明显核内移,Ⅰ型肌纤维萎缩较多,Ⅱ型肌纤维肥大较多。

Objective To explore the clinical,electrophysiological and muscle pathological manifestations of myotonic muscular dystrophy.Methods A retrospective analysis method was used to systematically analyze the clinical,electrophysiological,and muscle pathological manifestations of 11 patients from a family from June 2019 to February 2021.Results The clinical manifestations of the patients were mainly muscle rigidity,muscle weakness and muscle atrophy.In the first symptom,the most common symptom was limb weakness,which accounted for 36.36% of the patients.The main signs were decreased muscle strength,inability to open the fist immediately after clenching,and muscle atrophy.Among them,90.91% of the patients showed varying degrees of decreased muscle strength,and 45.45% of the patients showed more distal muscle strength than proximal muscle strength.Electromyography showed myogenic changes,and myotonic discharge in different degrees was found in all muscles.The main manifestations of muscle pathology were the size and shape of muscle fibers.The pathological examination of muscle biopsy in cases of nuclear migration,chain nucleus formation and muscle fiber atrophy can reveal the condition of muscle fiber lesions in patients.After the staining examination,there are certain differences in the staining of muscle fibers in patients with different diseases.The area of type I fiber was(4758.2±208.2)μm^(2),and that of type II fiber was(7859.5±276.9)μm^(2),the difference was statistically significant(t=29.690,P<0.001).The circumference of type I fiber was(251.3±60.3)μm,and that of type II fiber was(315.3±62.8)μm,the difference was statistically significant(t=2.438,P=0.024).The equivalent circular diameter of type I fiber was(72.1±19.4)μm,and that of type II fiber was(90.7±17.2)μm,the difference was statistically significant(t=2.379,P=0.027).The maximum diameter of type I fiber was(90.8±18.4)μm,and that of type II fiber was(110.2±20.3)μm,the difference was statistically significant(t=2.348,P=0.029).The minimum diameter of type I fiber was(39.2±17.8)μm,and that of type II fiber was(59.4±20.1)μm,the difference was statistically significant(t=2.495,P=0.021).The mean value of innervation was(0.4789±0.1796).Conclusion The clinical manifestations of patients with myotonic muscular dystrophy are more complicated,and the symptoms are more manifested.Among them,muscle atrophy and limb weakness are the main symptoms,and are accompanied by multiple systems.Electrophysiological examination and pathological examination of muscle biopsy are important diagnostic basis for myotonic muscular dystrophy.Patients with myotonic muscular dystrophy have obvious nuclear inward shift,type I muscle fiber atrophy is more,and type II muscle fiber hypertrophy is more.