Emery-Dreifuss型肌营养不良8例的临床、病理及分子生物学分析  

Clinical, pathological and genetic characteristics of 8 patients with Emery-Dreifuss muscular dystrophy

在线阅读下载全文

作  者:赵哲[1] 郭璇 沈宏锐[1] 邴琪[1] 陈建楠 魏珊珊 谢诗 胡静[1] Zhao Zhe;Guo Xuan;Shen Hongrui;Bing Qi;Chen Jiannan;Wei Shanshan;Xie Shi;Hu Jing(Department of Neuromuscular Disease,Hebei Medical University Third Hospital,Shijiazhuang 050051,China)

机构地区:[1]河北医科大学第三医院神经肌肉病科,石家庄050051

出  处:《中华神经科杂志》2023年第12期1333-1340,共8页Chinese Journal of Neurology

摘  要:目的总结Emery-Dreifuss型肌营养不良(EDMD)患者的临床、电生理、骨骼肌磁共振成像(MRI)、骨骼肌病理及分子生物学特点,以提高对本病的认识和诊治水平。方法收集于2011—2022年就诊于河北医科大学第三医院且经基因检查确诊的8例EDMD患者的临床资料,回顾性总结其临床症状、电生理改变(肌电图及心电图)、骨骼肌MRI、骨骼肌病理及基因突变特点。结果本组患者发病年龄为2.0~6.0(3.6±1.2)岁,均为隐匿起病,进行性加重。7例以肌无力为首发症状,表现为走路摇摆、蹲起费力、上楼困难;逐渐出现脊柱强直、关节挛缩;1例以脊柱侧弯为首发症状。4例发现异常心电图。8例肌电图符合肌源性损害。肌肉活组织检查病理结果呈肌病病理改变或肌营养不良表现。8例EDMD患者经二代测序均发现致病突变,共6个点突变,其中4个LMNA基因杂合突变(c.1583C>G、c.1357C>T、c.148C>T、c.1336A>G);1例为EMD基因半合子突变(c.501C>G);1例为SYNE1基因杂合突变(c.4364G>A)。结论EDMD具有高度临床、遗传异质性。儿童期发病,病程早期以下肢无力、走路姿势异常为首发表现;肌电图呈肌源性损害;骨骼肌MRI可见选择性脂肪浸润;肌活组织检查结果缺乏特征性病理表现。病程早期仅凭临床表现和辅助检查诊断及鉴别诊断均较困难。二代测序技术可提高EDMD的早期诊断率。Objective To summarize the clinical manifestations,electrophysiological,muscle magnetic resonance imaging(MRI),pathological,and genetic characteristics of 8 patients with Emery-Dreifuss muscular dystrophy(EDMD)to improve the recognition and diagnosis of EDMD.Methods Eight patients with EDMD confirmed by gene analysis admitted to Hebei Medical University Third Hospital from 2011 to 2022 were enrolled.The detailed clinical symptoms,neurophysiological examination,electrophysiological changes(electromyography and electrocardiography),skeletal muscle MRI characters,skeletal muscle pathological features and gene mutations were analyzed retrospectively.Results The age of onset ranged from 2.0 to 6.0(3.6±1.2)years.All patients had insidious onset and progressive development.Muscle weakness was the first symptom for 7 cases that manifested as difficulty in squatting and walking up stairs.Later,spinal ankylosis and joint contracture occurred.One patient had scoliosis as the first symptoms.Abnormal electrocardiogram was found in 4 cases.The electromyography of all patients showed myogenic damage.Muscle biopsy demonstrated dystrophic features in 1 patient,and other myopathic features,including a variation in muscle fiber size,a marked increase in internal nuclei,and,smaller diameter of typeⅠfibers.Next-generation sequencing result showed that 6/8 cases carried 4 LMNA heterozygous mutations(c.1583C>G,c.1357C>T,c.148C>T,c.1336A>G);1/8 case carried EMD hemizygous mutation(c.501C>G);1/8 carried SYNE1 heterozygous mutation(c.4364G>A).Conclusions EDMD has highly clinical and genetical heterogeneity.The onset age is usually in childhood.The first symptom is characterized by weakness of lower limbs and abnormal walking posture.Electromyography shows myogenic lesion.Skeletal muscle MRI shows selective fat infiltrations.Muscle biopsy pathology lacks characteristic pathological findings.It is difficult to make diagnosis and differential diagnosis by clinical manifestations and auxiliary examination in the early stage of the disease.

关 键 词:肌营养不良 Emery-Dreifuss型 活组织检查 突变 

分 类 号:R746.2[医药卫生—神经病学与精神病学]

 

参考文献:

正在载入数据...

 

二级参考文献:

正在载入数据...

 

耦合文献:

正在载入数据...

 

引证文献:

正在载入数据...

 

二级引证文献:

正在载入数据...

 

同被引文献:

正在载入数据...

 

相关期刊文献:

正在载入数据...

相关的主题
相关的作者对象
相关的机构对象