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。     

强直性肌营养不良症的临床特点

目的总结强直性肌营养不良症(DM)的临床特点。方法回顾性分析24例DM患者的临床资料。结果本组中20例(83.3%)患者在青年期起病,进展缓慢;19例(79.2%)有家族史。临床表现以面部、颈部及肢体远端肌肉为主的无力、萎缩及强直,伸肌重于屈肌;可伴全身多系统受累;血清肌酶正常或轻度升高。肌电图具有特征性的肌强直放电和肌源性损害;8例肌肉病理检查显示核内移、核链形成,以Ⅰ型肌纤维萎缩为主,7例出现肌纤维坏死,4例肌纤维结构紊乱,3例肌浆块,2例肌膜呈锯齿状。结论DM的临床特征是肌无力、萎缩及强直;肌电图和肌活检对诊断具有重要意义。     

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。     

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...     

强直性肌营养不良临床及肌电电生理(附5例报告)

强直性肌营养不良（MY）是常染色体显性造传的多系统疾病,临床表现为肌无力、肌强直、肌萎缩,大多为缓慢起病,疾病晚期可出现瘫痪。因部分病例临床症状不典型而误诊为其它疾病,肌电图及肌肉病理对本病有一定诊断意义。现将我院近年来确诊为（MYD）11例报道如下。临床资料1．一般资料：本组患者11例（其中3例为一个家族）,男6例,女5例,就诊年龄18～52岁,平均年龄363岁。发病年龄11～40岁,平均为23岁。病程4～3O年,平均12年。其中9例有明显家族史。2．临床与体征：本组患者11例均有肌无力、肌强直症状,4例有肌萎缩。首发症状双…     

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。     

强直性肌营养不良临床、电生理和肌肉病理研究

目的探讨强直性肌营养不良(DM)的临床、电生理和肌肉病理表现,提高对该病的认识。方法 4例患者结合家族史、临床表现、电生理和肌肉病理检查确诊为DM。并分析DM的特点。结果 4例患者均有颞肌萎缩和四肢肌无力、肌萎缩、肌强直;同时4例患者均有脱发;2例患有白内障;3例有Ⅰ度房室传导阻滞。肌肉病理检查主要表现为:Ⅰ型纤维萎缩、大量肌核内移和核链形成,肌膜下肌浆块和环形纤维的形成。结论临床以肌无力、肌萎缩、肌强直为主要表现的多系统损害的遗传性疾病要及时考虑到强直性肌营养不良的可能,肌电图和肌肉病理是诊断该病的关键,必要时可行基因检测以明确诊断。     

强直性肌营养不良症19例骨骼肌病理分析

目的探讨强直性肌营养不良症(DM)骨骼肌病变的病理学特点。方法选择19例经临床和肌电图确诊的强直性肌营养不良症患者为研究对象,骨骼肌标本采用恒冷冰冻切片和酶组织化学染色方法,在光镜下观察骨骼肌组织的病理学变化特点。结果在HE染色,19例患者的骨骼肌标本均可见不同程度的肌纤维萎缩,但变性坏死肌纤维较少见,有7例患者在肌纤维中可见到肌质块。在组织化学MGT染色中,6例患者肌纤维中可见数量不等的破碎红边纤维(RRF),肌质块在MGT染色上呈深绿色,在NADH染色中肌质块呈深蓝色,较HE染色更易识别。在ATP酶染色中,19例患者有11例存在Ⅰ、Ⅱ型肌纤维分布异常现象,其中9例以Ⅰ型纤维明显占优势,2例以Ⅱ型纤维稍占优势,8例患者肌纤维分布基本正常。结论强直性肌营养不良症的骨骼肌病理改变,除常见的肌核增多内移,肌核聚集成核袋及核链现象以外,肌质块的出现和Ⅰ、Ⅱ型肌纤维分布异常应视为强直性肌营养不良症重要的特征性病理改变,肌肉活检对本病的诊断与鉴别诊断有一定的临床意义。     

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。     

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.     

Congenital myotonic dystrophy. Changes in muscle pathology with ageing

Undifferentiated type 2C fibers and satellite cells were increased in number in younger patients with congenital myotonic dystrophy (CMD) indicating immaturity in muscle fiber growth. The changes found in a 38-year-old man with CMD were identical to those described in late onset myotonic dystrophy. Type 1 fibers were found to become predominant with age. This suggests that in this disorder fiber type transformation progresses with age, presumably due to abnormal neural influences or aberrant sarcolemmal responses.     

Muscle pathology in 57 patients with myotonic dystrophy type 2

We evaluated muscle biopsies from 57 patients with genetically confirmed myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM). Light microscopy showed myopathic together with "denervation-like" changes in almost all biopsies obtained from four different muscles: increased fiber size variation, internal nuclei, small angulated fibers, pyknotic nuclear clumps, and predominant type 2 fiber atrophy. Quantitative morphometry in 18 biopsies that were immunostained for myosin heavy chain confirmed a predominance of nonselective type 2 fiber atrophy. These histological changes were similar in all patients regardless of the site of biopsy, the predominant clinical symptoms and signs, and the clinical course. It is likely that, in a number of undiagnosed patients, DM2 is the underlying disorder. With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated.     

Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I

OBJECTIVE: To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders. METHODS: 598 patients with a neuromuscular disease were studied (139 with facioscapulohumeral dystrophy, 322 with adult onset myotonic dystrophy, and 137 with hereditary motor and sensory neuropathy type I). Fatigue severity was assessed with Checklist Individual Strength (CIS-fatigue). Functional impairments in daily life were measured with the short form 36 item health questionnaire (SF-36). RESULTS: The three different neuromuscular patient groups were of similar age and sex. Severe experienced fatigue was reported by 61-74% of the patients. Severely fatigued patients had more problems with physical functioning, social functioning, mental health, bodily pain, and general health perception. There were some differences between the three disorders in the effects of fatigue. CONCLUSIONS: Severe fatigue is reported by the majority of patients with relatively common types of neuromuscular disorders. Because experienced fatigue severity is associated with the severity of various functional impairments in daily life, it is a clinically and socially relevant problem in this group of patients.     

Partial syndrome of myotonic dystrophy: clinical presentation and follow-up

The neurological and ophthalmological investigation of 602 members of 88 Saguenay kindreds affected by myotonic dystrophy (MyD) revealed 130 persons with a partial syndrome. These patients, whose average age was 34.1 years, showed different abnormalities such as particular ophthalmic and/or neuro-muscular signs, suggesting MyD in the absence of myotonia or typical lens abnormalities. After an average period of 2.4 years, 44 of these 130 patients were reassessed by the same neurologists and ophthalmologists. Thirty still had a partial syndrome, 8 showed a typical form of MyD and 6 no longer presented any identifiable anomaly. This preliminary follow-up study of the partial MyD syndrome did not allow us to identify any clinical anomaly from which the presence of the MyD gene could be predicted in a significant way. It furthermore suggested that the identification of equivocal or unspecific signs among these patients can sometimes lead to misdiagnosis. This must be taken into account when providing genetic counselling. It furthermore indicates that the use of DNA probes is essential for a reliable identification of asymptomatic MyD gene carriers.     

Human brain pathology in myotonic dystrophy type 1: A systematic review

Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search in EMBASE (index period 1974–2017) and MEDLINE (index period 1887–2017) on December 11, 2017, using free text and index search terms related to myotonic dystrophy type 1 and brain structures or regions. Eligible studies were full‐text studies reporting on microscopic brain pathology of DM1 patients without potentially interfering comorbidity. We discussed the findings based on the anatomical region and the nature of the anomaly. Neuropathological findings in DM1 can be classified as follows: (1) protein and nucleotide deposits; (2) changes in neurons and glial cells; and (3) white matter alterations. Most findings are unspecific to DM1 and may occur with physiological aging, albeit to a lesser degree. There are similarities and contrasts with Alzheimer's disease; both show the appearance of neurofibrillary tangles in the limbic system without plaque occurrence. Likewise, there is myelin loss and gliosis, and there are dilated perivascular spaces in the white matter resemblant of cerebral small vessel disease. However, we did not find evidence of lacunar infarction or microbleeding. The various neuropathological findings in DM1 are reflective of the heterogeneous clinical and neuroimaging features of the disease. The strength of conclusions from this study's findings is bounded by limited numbers of participants in studies, methodological constraints, and lack of assessed associations between histopathology and clinical or neuroimaging findings.     

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     

强直性肌营养不良的临床与肌肉病理研究

目的 研究强直性肌营养不良（ＤＭ）的临床与病理变化。方法 总结３例ＤＭ的临床特点,并对肌活检标本进行光镜和电镜检查。结果 ３例ＤＭ患者,年龄２５～４０岁,临床特点为缓慢进行的四肢无力,肌强直发作,腱反射迟钝对称,前额秃发。ＥＭＧ示肌源性损害,可见肌强直发放。肌活检光镜下可见肌纤维萎缩,肌核内移呈核链形成,肌纤维横纹尚存,晚期可见脂肪细胞浸润,电镜下可见肌纤维变性,溶解,Ｚ带破坏,线粒体肿胀、变性,