2家系面肩肱型肌营养不良临床分析

目的探讨面肩肱型肌营养不良的临床特点。方法对2个家系患者的临床资料进行分析。结果患者起病多在青春期，男性多于女性，病情呈进行性发展，临床主要表现为肌萎缩和肌无力主要累及面肌、肩带肌和上臂肌群，常见翼状肩；肌电图显示肌源性损害，肌肉活检表现肌病特征。结论该病临床异质性很高，无特殊有效治疗，预后相对良好。     

运动神经元病的肌肉病理及其在诊断中的使用价值

本文报告６７例运动神经元病（ＭＮＤ）患者肌活检组织的光镜及酶组织化学检查的结果，其中２２例作过电镜观察；并与其它易混淆病（成年型脊髓性肌萎缩症、青年单侧上肢远端肌萎缩症、颈椎病和某些较慢性的周围神经病）７０例作对比研究。结果表明ＭＮＤ的肌肉病理有其特点，认为肌活检可作为ＭＮＤ诊断和鉴别诊断的重要辅助检查手段。     

眼外肌受累的家族性进行性脊肌萎缩症二例报告

眼外肌受累的家族性进行性脊肌萎缩症二例报告杨霞峰张洪军秦绍林刘合莲李玉平例１男，４２岁。因双手肌萎缩、吞咽困难伴复视２年，于１９９５年７月１０日入院。患者２年前无明显诱因出现双上肢无力、肌肉跳动、双手肌萎缩、饮水呛咳、吞咽困难、声音嘶哑、视物成双。６...     

强直性肌营养不良一家系临床分析

目的 探讨强直性肌营养不良(DM) 的临床特点,以提高对该病的认识.方法 对一DM 家系确诊的5例患者的临床资料进行收集分析,包括患者基本资料、临床表现、肌电图及肌肉活检等.结果 5例DM 患者均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴眼部、心脏、内分泌和神经等多系统损害,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检具有相对特异性肌病特征.结论 DM 是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样,肌肉活检有助于明确诊断.     

慢性多发性肌炎临床及病理分析

目的探讨慢性多发性肌炎的发病机制、临床和病理特征。方法回顾性分析95例慢性多发性肌炎患者临床表现、肌酶学和肌电图检查结果,总结肌肉病理学特征。结果慢性多发性肌炎以四肢近端肌无力、肌萎缩为主要表现,血清酶谱轻-中度增高,肌电图以肌源性损害为主,病理改变为灶性坏死、炎性细胞浸润与再生肌纤维共存。结论临床特点结合病理学检查有助于慢性多发性肌炎的诊断,多数患者激素治疗有效。     

表现似运动神经元病的慢性多发性肌炎一例

表现似运动神经元病的慢性多发性肌炎一例黎莉，李大年，吴金玲，张松现将我室经病理证实貌似运动神经元病的一例慢性多发性肌炎报告如下。患者，男，３０岁，四肢进行性无力、肌萎缩１０年。１０年前无明显诱因出现左手无名指和小指无力，逐渐累及前臂和上臂，伴明显肌肉...     

萎缩性肌强直的临床与病理

本文报告了３例萎缩性肌强直的病人，其中２例做了肌肉活检。３例均表现为肌肉无力，肌萎缩和肌强直，均有ＥＭＧ强直性放电。本病多为常染色体显性遗传，但本文报告３例中２例病人均无家族史，可能是遗传异质性的作用，致病基因未表达或外显不全。     

腓骨肌萎缩症神经电生理及组织病理学研究

目的:研究腓骨肌萎缩症(charcot-Marie-Tooth disease,CMT)临床特征分析神经电生理检测在其诊断和分型中的价值。方法:CMT 20例其临床特征,神经电生理及腓肠神经活检结果进行分析。结果:20例中均表现为慢性进行性双下肢或四肢无力及肌萎缩。双上肢以前臂1/2远端明显。双下肢以大腿下1/3远端明显。骨骼变形,双手呈爪形,双足高弓。5例合并感觉障碍。15例运动神经传导速度减慢(15-28m/s)。10例腓肠神经活检符合慢性脱髓鞘性周围神经病。其中6例有剥洋葱样改变,4例符合慢性轴索神经病。结论:慢性进行性双下肢或四肢无力及肌萎缩为主要临床特征的腓骨肌萎缩征分为Ⅰ型(脱髓鞘型)和Ⅱ型(轴索型)两个主要亚型。周围神经电生理检查是诊断和区分不同亚型的可靠方法。而腓肠神经活检是进一步提高对CMT临床认识和优化基因突变检测程序,明确诊断和分型的客观依据。     

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.     

三好型远端型肌病

远端肌萎缩多见于神经源性疾患，但当肌电图和肌活检显示肌源性改变时，则应考虑远端型肌病。     

Possible neurogenic factor in muscular dystrophy: its similarity to denervation atrophy

Muscle biopsy specimens from 179 cases of muscular dystrophies and from 140 cases of anterior horn cell disorders (from a total of 1,348 biopsied patients) were examined histologically. There were 72 cases of Duchenne type muscular dystrophy (DMD), five of Becker type MD, four girls with myopathy resembling DMD, 40 with limb-girdle, 10 with facioscapulohumeral, seven with late onset, 13 with congenital, and 28 with unclassifiable muscular dystrophies. Groups of small atrophied muscle fibres were encountered in 42 (23%) of the cases in this group, most frequently in patients with limb-girdle, facioscapulohumeral, and least frequently with DM dystrophy. In the second group there were 25 cases of infantile, 38 of juvenile, and 39 of adult spinal muscular atrophy (SMA); there were 21 patients with motor neurone disease (MND), six with poliomyelitis, and 11 with an unclassifiable type of anterior horn cell disorder. Pseudomyopathic changes were encountered in 43 (30%) of all cases in this group. They were most frequently present among patients with juvenile and adult SMA and in those with MND. The presence of group atrophy in muscular dystrophy is considered significant myopathological evidence of a denervation process. On the other hand, pseudomyopathic changes, variation in fibre size, rounding, central nuclei, and increase in connective tissue occurring in various anterior horn cell disorders are seen not to be specific `myopathic'' changes. Thus there was an overlap of pathological reactions in muscles from the dystrophies and the neurogenic atrophies. Comparably atrophied fibres (much less than 2 SDs below the normal mean diameter) and hypertrophied fibres (much more than 2 SDs above the normal mean diameter) were encountered in both dystrophy and neurogenic atrophy, considering the large muscles of the limb. Likewise, the mean fibre diameters were comparable in DMD and in juvenile SMA. The fourth evidence of a neurogenic factor in muscular dystrophy was derived from an examination of SDH preparations of muscle. There was a preponderance of type I muscle fibres in dystrophic muscles compared with specimens from controls, suggesting depletion of type II fibres. It appears that the concept of muscular dystrophy as a primary muscle disease needs to be re-examined.     

Spinal muscular atrophy combined with sporadic olivopontocerebellar atrophy

The combination of spinal muscular atrophy (SMA) with a variety of neural and extraneural defects, particularly pontocerebellar hypoplasia, has been reported. To date, all of the reported SMA with pontocerebellar hypoplasia was from infants; however, here we report a SMA with sporadic olivopontocerebellar atrophy (sOPCA) in an adult patient. The 68-year-old male patient displayed various clinical symptoms including progressive proximal muscle weakness, muscle atrophy and muscle fasciculation with a long course of disease. EMG demonstrated that amyotrophy was due to the impairment of lower motor neurons. The clinical symptoms and the EMG were consistent with the diagnosis of SMA. The presence of cerebellar ataxia, limb tremors, muscle atrophy and weakness in the patient led to the diagnosis of sOPCA that was confirmed by the MRI results. To our knowledge, this is the first case report of combination of SMA with sOPCA in an adult. It is yet unclear whether there is a common pathogenesis between the two diseases.     

成人型脊髓性肌萎缩症临床分析(附46例报告)

目的总结分析成人型脊髓性肌萎缩症(SMA4)的临床特征。方法收集46例经肌肉活检证实的SMA4病例进行临床资料回顾性分析。结果SMA4起病隐袭,进展缓慢,肌无力以四肢近端为主,无锥体束受累。约四分之一患者血清CPK轻度升高;EMG示神经源性损害;肌活检主要为小群性肌萎缩,ATP酶染色见同型肌群化及肌纤维代偿性肥大。结论SMA4是病变影响下运动神经元的一组独立性疾病,并非为肌萎缩侧索硬化的某一发展阶段。预后相对良好。     

Descriptive epidemiology of spinal muscular atrophy type I in Estonia

Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.     

Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a frequently occurring autosomal recessive disease, characterized by the degeneration of spinal cord anterior horn cells, leading to muscular atrophy. Most SMA patients carry homozygous deletions of the telomeric survival motor neuron gene (SMN) exons 7 and 8. In the study presented here, we examined 20 Japanese SMA patients and found that 4 of these patients were lacking in telomeric SMN exon 7, but retained exon 8. In these 4 patients, who exhibited all grades of disease severity, direct sequencing analysis demonstrated the presence of a hybrid SMN gene in which centromeric SMN exon 7 was adjacent to telomeric SMN exon 8. In an SMA family, a combination of polymerase chain reaction and enzyme-digestion analysis and haplotype analysis with the polymorphic multicopy marker Agl-CA indicated that the patient inherited the hybrid gene from her father. In conclusion, hybrid SMN genes can be present in all grades of disease severity and inherited from generation to generation in an SMA family.     

The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever

New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.     

Impact of a national population-based carrier-screening program on spinal muscular atrophy births

Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier screening for SMA was introduced in Israel in 2008 through health-care services’ insurance plans and expanded to the entire Israeli population in 2013 by a national health program. The aim of the study was to evaluate the impact of carrier screening on reducing the rate of birth of infants with SMA. All cases of prenatal and postnatal diagnosis of SMA in 2008–2017 were identified from databases of relevant government organizations, genetic laboratories in medical centers, and health care systems in Israel. Since 2013, screening was performed in 309,352 individuals, of whom 5741 were found to be carriers (carrier rate 1:54). Given an average of 180,000 live births annually, the predicted rate of SMA diagnosis was 15 cases per year. Prior to 2013, the average rate of prenatally diagnosed SMA was 4.66 cases per year, compared with 7.75 cases per year following population-wide provision of screening. The annual rate of postnatally diagnosed cases remained steady since 2008, with an average of 7- 7.25 cases per year. Screening has been effective in increasing prenatal detection of SMA but has had no effect on the rate of confirmed postnatal diagnoses. We speculate that screening rates may be affected by social, cultural, and religious factors.     

Neonatal spinal muscular atrophy with multiple contractures,bone fractures,respiratory insufficiency and 5q13 deletion

We present the case of a floppy neonate with marked and generalized weakness, respiratory insufficiency and fetal akinesia deformation sequence. The infant showed multiple joint contractures, two bone fractures and needed mechanical ventilation from birth to death at 16 days of age. Electrophysiological assessment showed electrically unexcitable motor and sensory nerves. Muscle biopsy showed diffuse atrophy of type I and type II fibers. Necropsy confirmed the diagnosis of infantile spinal muscular atrophy (SMA) with severe loss of motor neurons in anterior horns and motor nuclei of brainstem. There were also neuronal loss, gliosis, chromatolysis, ballooned cells, empty cell beds and neuronophagia figures in other brainstem and brain nuclei. Genetic analysis of the patient revealed homozygous deletions of survival motor neuron gene 1 (SMN1) and a single copy of SMN2 in region 5q13. This case confirms that the loss of spinal motor neurons underlies the muscular atrophy in severe cases of 5q SMA. This case also shows that the presence of multiple joint contractures, bone fractures and respiratory insufficiency in SMA in the neonatal period does not necessarily exclude the occurrence of classical deletions in the SMA 5q13 region. Rather, these atypical clinical findings show the extreme severity and prenatal onset of the disease in these SMA cases, which may be related with the occurrence of a single copy of SMN2 gene. More reports of clinically, pathologically and genetically well-documented cases are essential to define the different types of this disease.     

Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population

The authors reviewed all cases of type I spinal muscular atrophy (SMA) in Cuba over a 6-year period. The incidence of SMA type I was 3.53 per 100,000 livebirths. When the population was classified according to self-reported ethnicity, the incidence was eight per 100,000 for whites; 0.89 per 100,000 for blacks, and 0.96 per 100,000 for those of mixed ethnicity. Type 1 SMA may occur less frequently in individuals of African ancestry.     

SMA区域存在大片段缺失的脊髓型肌萎缩症3型患者：1例报告

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei,leading to progressive limb and trunk paralysis and muscular atrophy.Depending on the age of onset and maximum muscular function achieved,SMA is recognized as SMA1,SMA2,SMA3 or SMA4,and most patients have a deletion or truncation of the survival motor neuron 1 (SMN1) gene.In this report,we present a patient with a mild SMA phenotype,SMA3,and define his genetic abnormality.Tetra-primer amplification refractory mutation system PCR combined with restriction fragment length polymorphism analysis and array comparative genomic hybridization were used to determine the genetic variations in this patient.A 500 kb deletion in chromosome 5q13.2,including homozygous deletion of neuronal apoptosis inhibitory protein,and heterozygous deletion of occludin and B-double prime 1 was identified.This SMA region deletion did not involve SMN,indicating that SMN was likely to function normally.The phenotype was dependent of the large deletion and neuronal apoptosis inhibitory protein,occludin and B-double prime 1 may be candidate genes for SMA3.