强直性肌营养不良Ⅰ型临床、病理、骨骼肌磁共振特点

目的总结11例强直性肌营养不良Ⅰ型(DM1)患者的临床、病理和双下肢肌肉受累的特点。方法回顾性分析2012年01月至2020年10月就诊于南京鼓楼医院神经内科的11例DM1患者的临床、骨骼肌活检病理及5例双下肢骨骼肌磁共振的特点。结果11例患者均有不同程度的肌强直、伴有肌无力/肌萎缩症状,肌无力/肌萎缩远端重于近端。骨骼肌病理特点:10/11例患者可见Ⅰ型肌纤维轻度萎缩,部分患者可见核内移、核聚集、肌浆块现象。双下肢肌肉磁共振:5例患者双下肢远端脂肪浸润重于近端,双侧肌肉受累程度不对称,大腿肌肉脂肪浸润以股中间肌最严重,小腿肌肉以腓肠肌、比目鱼肌、腓骨长肌最严重。结论骨骼肌磁共振对诊断强直性肌营养不良Ⅰ型有重要的提示意义。

Clinical,pathological and skeletal muscle magnetic resonance characteristics of tonic muscular dystrophy type 1

Objective To summarize characteristics of the clinical manifestation,pathology and lower limb muscle magnetic resonance imaging in 11 patients diagnosed as myotonic dystrophy 1.Methods Eleven patients with myotonic myopathy 1,who were admitted to Nanjing Drum Tower Hopsital from January 2012 to October 2020,were chosen in our study.All patients accepted clinical examination,skeletal muscle biopsy,and 5 of them received lower limb muscle magnetic resonance imaging(MRI).Clinical data were collected for retrospective analysis.Results All 11 patients were observed muscle myotonia,weakness or amyotrophy to some extent and the latter two symptoms were more serious in distal limb than in proximal.Under the light microscopy,type I filber atrophy in ten cases,nucleus moving inward,nucleus gathering and sarcoplasmic masses in some cases were found.That fatty infiltration appears asymmetrical distribution and more serious in distal limb compared with the proximal limb in five cases was observed by MRI.Among lower limbs,vastus medialis,vastus lateralis,vastus intermedius,tibialis anterior,gastrocnemius,soleus muscles were the most severely affected.Conclusion Muscle magnetic resonance imaging examination is a trustworthy method for definite diagnosis of myotonic myopathies.