强直性肌营养不良症的临床与肌肉病理学特点

目的探讨强直性肌营养不良症(DM)的临床及肌肉病理学的特点。方法对6例DM患者的临床资料进行回顾性分析。结果6例患者均呈慢性病程,以肌无力、肌强直和肌肉萎缩为主要表现,多伴有脱发、白内障、心脏传导阻滞等多系统损害。肌电图检查结果为肌源性损害,6例均可见肌强直电位发放。病理学检查见肌纤维核内移、核袋及核链现象,部分患者可见肌质块及肌纤维分布异常。结论DM是一种以肌无力和肌强直为主要表现的多系统损害的遗传性疾病;特征性病理改变为肌纤维核内移、核链以及肌质块、肌纤维分布异常。     

强直性肌营养不良临床特点分析

目的分析强直性肌营养不良(DM)的临床特点,以提高对DM疾病的认识及诊断水平。方法对21例DM患者的临床资料进行回顾性总结与分析。结果 21例患者均为慢性起病,以双手无力,活动不灵活起病多见,其中5例有家族史,部分病例伴有心脏、眼部、内分泌及中枢神经系统等其他多系统损害。19例行肌电图检查提示肌源性损害,其中16例发现有肌强直电位。10例行肌活检,主要表现为部分肌纤维萎缩,变性、坏死肌纤维,核内移及肌浆块形成,部分萎缩纤维内可见无结构胞浆体。1例强直性肌营养不良蛋白激酶(DMPK)基因CTG重复序列分析发现拷贝数超过正常范围。结论 DM是一种主要累及肌肉系统,以肌强直、肌无力和肌萎缩为主要临床表现并伴有多系统损害的疾病。综合评估多系统损害并结合肌肉的电生理学及病理学检查,有助于提高对DM的认识;在有条件的医疗机构可以开展DM基因诊断,对DM确诊很有意义。     

强直性肌营养不良症的临床、电生理学和病理学特点

目的 探讨强直性肌营养不良症(DM)的临床、电生理学和病理学特点.方法 回顾性分析12例DM的临床资料.结果 12例患者均为慢性起病,10例有家族遗传史(为两个家系),临床表现12例均有肌强直、肌萎缩和视力障碍,肌无力10例,秃顶8例,性功能障碍7例.肌电图均示肌源性损害和肌强直电位,神经传导速度基本正常.1例肌肉病理检查示肌纤维的核内移及肌纤维萎缩、脂肪增生.结论 DM的临床特点为肌强直、肌无力、肌萎缩以及合并多系统损害.电生理学与病理学检查出现肌源性损害,肌电图出现肌强直电位有重要临床意义.     

强直性肌营养不良的肌肉病理特点

目的:总结强直性肌营养不良(DM)的肌肉病理特点。方法:分析8例强直性肌营养不良患者肌肉活检标本的光镜和电镜检查结果。结果:光镜下病理改变,8例标本示肌纤维萎缩,Ⅰ、Ⅱ型肌纤维均受累,以Ⅰ型肌纤维萎缩为主,且均有核内移,核链形成。电镜下病理改变:4例为肌节不清晰,4例肌丝排列紊乱,3例肌丝溶解、肌纤维坏死,3例肌膜下肌浆块。结论:DM的病理特征为核内移,核链形成,以Ⅰ型纤维为主的肌萎缩,伴有Z带破坏,肌纤维坏死,肌浆块和肌膜微小缺损等。     

强直性肌营养不良症一例报告

患者男性．43岁。因进行性四肢无力7年入院。患者于1997年夏季开始出现四肢无力．同时觉双下肢发僵．肌肉发硬，随后逐渐加重．并出现嗜睡。2004年5月发现双上臂肌肉萎缩，查肌电图示肌源性损害．眼科检查示白内障．9月出现双下肢水肿．平卧睡觉呼吸困难，近2年性功能明显减退、阳痿，于2004年10月入院。     

强直性肌营养不良家系的临床及电生理表现

强直性肌营养不良家系的临床及电生理表现张哲成王纪佐实验对象：对来自于４个家族的４例强直性肌营养不良（ＭＤ）患者作出明确诊断后，追朔其各家族谱系，除已故者、大部分儿童及家族成员配偶外，包括先证者在内的２０名成员作为研究对象。其中男性１２名，女性８名，年...     

强直性肌营养不良症临床与神经电生理分析

目的探讨强直性肌营养不良症(DM)的临床与神经电生理特点。方法回顾性分析21例经临床和神经电生理确诊的强直性肌营养不良症的临床资料和神经电生理改变。结果 21例患者共检测105块肌肉,肌强直放电发生率为100%,其中拇短展肌强直放电发生率91%,小指展肌发生率81%,胫前肌发生率57%,肱二头肌发生率24%,股内肌发生率19%。21例病人肌电图检测中,有14例出现肌源性损害,其中胫前肌10块,肱二头肌6块,股内肌4块,拇短展肌2块。结论强直性肌营养不良症患者肢体远端肌强直放电检出率明显高于近端,同时进行上下肢的近端和远端肌肉的肌电图检查,对确诊DM具有重要的临床意义。     

30例进行性肌营养不良症的临床特点

目的探讨进行性肌营养不良症的病因、临床特点及治疗方法。方法本院1978～2006年诊治的30例进行性肌营养不良症(progressive muscular dystrophy,PMD)的病历资料进行回顾性分析。结果(1)duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)占40%(12/30)为最常见类型;(2)30例患者中56.6%(17/30)以不同程度的肢体无力为首发症状,70.00%(21/30)存在不同程度的肌肉萎缩,为最多见症状及体征;(3)46.67%(14/30)的患者肌电图提示肌源性损害;(4)duchenne型肌营养不良症(DMD)和Becker型肌营养不良症(Becker muscular dystrophy,BMD)血清肌酸激酶(CK)与乳酸脱氢酶(LDH)增高最明显;(5)85.71%患者治疗后症状未得到任何改善,临床好转率仅为14.29%。结论(1)PMD是一种遗传性肌源性疾病,其中DMD最常见;(2)PMD的诊断主要依据临床表现、肌电图及血清酶学检查;(2)遇到原因不明的肢体无力或肌肉萎缩,应考虑到本病;(4)PMD目前无有效的治疗手段。     

强直性肌营养不良的心血管表现及其临床管理策略

强直性肌营养不良(DM)是成人最常见的肌营养不良,心律失常发生率高,心源性猝死(SCD)风险高.SCD重在预防,应每年对患者随访,并应对心电图检查发现传导缺陷和/或电生理学检查发现希氏束下传导阻滞的患者预防性安装永久起搏器.植入式心脏除颤器治疗是伴有室性心动过速患者的适应证.现就DM患者的心血管表现及其对预后的影响研究...     

强直性肌营养不良症—一个家系的报告

强直性肌营养不良症(DM)为神经系统遗传性疾病,发病率5.5/10万。近期收治1例,调查该家系4代有5人发病和可疑患者2人,对其中2例进行了临床、实验室及肌肉活检的病理和组化检查。 例1,女,47岁。8年前无诱因觉腰肌和四肢无力,进行性加重伴双手握拳后不易放松,逐渐丧失劳动能力。38岁绝经,幼子先天智力低下。外祖父和舅舅青年期消瘦死亡。两个妹妹有肌无力和强直的表现。查体:表情少,眼睑闭合无力,行走鸭步。双侧胸锁     

强直性肌营养不良的分子诊断技术的临床应用研究

目的探讨强直性肌营养不良(MD)早期分子诊断方法的准确性、有效性、适用性。方法以150名正常人及8个家系共82名MD患者及成员为研究对象，应用长模板TM-PCR扩增法对其组织中MTPK基因3^ 端三核苷酸CTG重复拷贝数进行检测。结果150名正常人MTPK基因3^ 端三核苷酸CTG重复拷贝数均在5～37次之间，其中以13次频率为最多(83／150)；8个家系82名受检者中86.5％(46／52)临床诊断患者与8名临床可疑患者CTG重复拷贝数高于正常；半数无症状者CTG重复拷贝数高于正常，并在后来随访中陆续出现症状；1例临床可疑MD女性患者个体的组织及其流产胎儿组织CTG重复拷贝数明显高于正常。结论运用长模板PCR扩增TM法来检测受检者DNA的分子诊断技术其准确性与有效性高，适用性广，对于MD的早期诊断及预测，对于优生优育、降低DM发病率具有重要价值，临床值得推广。     

Absent,unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2

The purpose of this study was to describe the frequency of absent, unrecognized, or minimal myotonic discharges (MDs) in myotonic dystrophy type 2 (DM2). We performed a retrospective review of needle electromyography (EMG) data prior to genetic diagnosis in 49 DM2 patients at the Mayo Clinic. MDs were not reported on first or repeat EMG studies (n = 8) and not found in archived recordings of 4 patients (8%); archived EMG recordings (n = 4) confirmed the absence of MDs (n = 2), including 1 patient with normal insertional activity in all muscles, and misinterpretation of MDs as slow fibrillation potentials (n = 1) and complex repetitive discharge (CRD) activity (n = 1). Eight (16%) patients had minimal classic MDs with diffusely increased insertional activity, including waning‐only MDs in all patients in this group with archived EMG recordings (n = 5). Diffuse MDs were found in 33 (67%) patients. Absent or minimal MDs do not exclude DM2. Over‐reliance on diffuse MDs in patients who present with myopathy may lead to delay in genetic diagnosis of DM2. Muscle Nerve, 2010     

Bone anomalies in myotonic dystrophy

Sixteen patients with myotonic dystrophy underwent CT examination of the skull, and measurement of bone mineral density at lumbar spine and hip by dual-photon absortiometry. The results were compared with those of 20 normal subjects of similar age and sex distribution. Hyperostosis of the calvarium, and increased bone mineral density at lumbar vertebrae were observed. One case showed basal ganglia calcification associated with hyperparathyroidism secondary to deficiency of vitamin D. In the other 15 patients, studies of calcium metabolism were normal. There results suggest the existence of generalized hyperostotic potential in patients with myotonic dystrophy.     

Development of a disability scale for myotonic dystrophy type 1

Contardi S, Pizza F, Falzone F, D’Alessandro R, Avoni P, Di Stasi V, Montagna P, Liguori R. Development of a disability scale for myotonic dystrophy type 1.
Acta Neurol Scand: 2012: 125: 431–438.
© 2011 John Wiley & Sons A/S. Objectives – Myotonic dystrophy type 1 (DM1) is a multisystem disorder. Many tests in the literature have evaluated single aspects of DM1 patients, mainly focusing on muscular impairment, without an overall quantification of the different disease‐specific neurological features. We developed and validated a new functional scale for DM1 patients based on neuromuscular impairment (NI) and disability. Materials and methods – Thirty‐three patients were tested in basal condition, 18 were re‐evaluated after therapeutic intervention with mexiletine, and 13 at one year follow‐up without treatment. The scale includes 21 ordinal items in four areas: neuropsychology, motricity, myotonia and daily life activities. We evaluated inter‐ and intra‐observer reliability (intraclass correlation coefficient, ICC and Spearman correlations, respectively), internal consistency (Cronbach’s alpha), external validity (Spearman correlations between each area and other clinical and objective measurements and scales), and sensitivity to clinical changes after treatment or at follow‐up. Results – Our analysis provided good results for inter‐observer agreement (ICC = 0.72–0.97), intra‐observer reliability, and internal consistency for all areas (Cronbach’s α > 0.73). Total score and single area subscores were significantly correlated to objective measurements, disease duration and multisystem involvement. Finally, the scale was sensitive to clinical changes disclosing a significant improvement after treatment in the items assessing myotonia, and also to disease progression showing a significant worsening in all areas but myotonia in untreated patients. Discussion – Our scale provides a new practical measure to evaluate NI and disability of DM1 patients. Further longitudinal studies are warranted to confirm its reliability in tracking disease progression and severity over a longer period of time.