远端型肌营养不良2个家系的临床特点与神经电生理分析  

CLINICAL AND ELECTRONEUROPHYSIOLOGY FEATURES OF DISTAL MUSCULAR DYSTROPHY FROM TWO FAMILIES

作　　者：刘英[1] 李素荣[1] 冯建华[1] 胥勋成[1] 邹艺[1] 

机构地区：[1]四川省医学科学院.四川省人民医院神经内科,610072

出　　处：《现代电生理学杂志》2016年第1期12-14,23,共4页Journal of Modern Electrophysiology

摘　　要：目的：：报道2个家系5例远端型肌营养不良患者的临床特点及进行神经电生理分析。方法：对2个家系5例远端型肌营养不良患者进行详细的神经系统查体,查血磷酸肌酸激酶及取一侧腓肠肌或胫前肌进行活检。对每个患者检查一侧上肢正中神经和尺神经的运动和感觉神经测定,一侧下肢的胫神经和腓神经运动和感觉神经测定;两条以上的神经F波测定;至少4块以上的肌肉肌电图检查。结果：5例患者以腓肠肌或胫前肌萎缩明显,四肢反射减弱或未引出。血清肌酸激酶在1200~7500U/L。神经电生理检查MCV、CMAP、SCV、SNAP均属正常范围,EMG呈明显的肌源性损害表现。肌活检：肌纤维变性、坏死和再生活跃;伴肌间脂肪增生、浸润,血管周围无炎性细胞浸润,符合远端型肌营养不良症。结论：远端型肌营养不良结合患者的家族史、临床表现、肌酶学、肌肉病理学改变及肌肉肌电图检查可确诊。神经电生理可帮助鉴别远端型肌营养不良与腓骨肌萎缩症、脊肌萎缩症;肌肉病理学可帮助远端型肌营养不良与炎性肌病相鉴别。Objective： To report the clinical characteristics and electroneurophysiological analysis of distal muscular dystrophy in 5 patients from two family. Methods： The 5 patients with distal muscular dystrophy from two family were performed detailed examination of nervous system, blood creatine kinase and taken a side gastrocnemius muscle or tibialis anterior muscle biopsies. Each patient was examined for one side upper limb movement of median and ulnar nerve and sensory nerve, one side of the lower limbs of the tibial, peroneus motor and sensory nerve determination, two or more neural F wave and at least more than 4 pieces of muscle electromyography. Results： Gastrocnemius or tibialis anterior muscle obviously atrophy and limbs hyporeflexia or disappeared in the patients. Serum creatine kinase was in 1200~7500 U/L. MCV, CMAP, SCV and SNAP were all in the normal range,and the muscle of EMG show clear damage performance. Muscle biopsy： skeletal muscle chemical dyeing： muscle fibers degeneration, necrosis and regeneration active; With fat between the muscle proliferation, infiltration and no inflammatory cell infiltration around blood vessels, conform to distal muscular dystrophy. Conclusion： The distal muscular dystrophy can be confirmed by the family history, clinical manifestation, muscle enzymology, muscle pathology change and muscle electromyography examination. Electroneurophysiological examination can help identify the distal muscular dystrophy and peroneal muscular dystrophy, spinal muscular atrophy; Muscle pathology can help identify the distal muscular dystrophy and inflammatory myopathies.

关 键 词：远端型肌营养不良 肌电图 肌活检 肌酸激酶 

分 类 号：R746.2[医药卫生—神经病学与精神病学]