成人型近端脊髓性肌萎缩症的临床和肌肉病理学研究

目的 总结成人型近端脊髓性肌萎缩症(ASMA)临床和肌肉病理学特征，以提高对ASMA的认识。方法 对27例完成肌肉活检的ASMA患者进行临床及肌肉病理学分析。结果 该病多于45岁左右发病，起病及进展均缓慢，主要表现为近端肌肉无力、肌肉萎缩、肌束震颤，锥体束和周围神经一般不受累。4例患者肌酶增高。所有患者肌电图检查示神经源性损害，其中2例伴肌源性改变。肌肉活检光镜下见神经源性肌萎缩，其中3例伴肌源性损害。电镜下见肌原纤维数量减少、排列紊乱、部分断裂，Z线变粗或呈波浪样以及肌核聚集。结论 结合临床表现进行肌肉活检对ASMA诊断及鉴别诊断具有重要价值。     

缺血性脑血管病患者斑块内部不同组织成分的超声弹性图表现

目的 观察缺血性脑血管病患者斑块内部不同组织成分的超声弹性图表现。方法 选取郑州大学第二附属医院收治的缺血性脑血管病患者,均接受常规超声与超声实时组织弹性成像（RTE）检查,结合术后病理结果,仔细观察斑块内部不同组织成分（包括纤维组织、钙化、脂质坏死核心以及出血/血栓等）超声弹性图表现,比较不同声像图分型斑块RTE弹性评分,分析常规超声、RTE及二者联合诊断易损斑块准确性。结果 超声弹性图中,纤维组织显示蓝色,钙化显示蓝白色,脂质坏死核心显示绿色,出血/血栓显示绿色与红绿色相间或者蓝绿色相间;均质型斑块RTE弹性评分明显高于脂质型、混合型、溃疡斑块（P<0.05）;常规超声诊易损斑块断灵敏度82.76%,特异度66.67%,准确性80.00%,Kappa值0.41;RTE诊断灵敏度90.80%,特异度88.89%,准确性90.48%,Kappa值0.70;二者联合诊断灵敏度97.70%,特异度94.44%,准确性97.14%,Kappa值0.90;二者联合诊断准确性明显高于常规超声、RTE(P<0.05),且RTE明显高于常规超声;二者联合诊断灵敏度明显高于常规超声（P&l...     

10例平山病临床特征分析

目的:研究平山病(HD)患者的临床表现、神经电生理改变及颈部磁共振成像(MRI)特点.方法:对10例HD患者的临床表现、神经电生理特征及颈部MRI表现进行回顾性分析.结果:10例患者平均发病年龄(17.3±3.7)岁,均有大小鱼际肌、骨间肌及前臂远端肌群萎缩,呈斜坡样改变.肌电图检测提示患侧上肢远端肌肉呈神经原性损害,而患肢对侧肌肉萎缩较轻,对侧同名肌肉或上肢近端肌肉也呈神经原性损害改变.颈部MRI可见低位颈髓萎缩,其中以C6、C7明显;过屈位扫描时下段颈髓前移、变平,硬脊膜向前移位,脊髓后方硬膜下间隙增宽.结论:神经电生理检查在HD的早期诊断、鉴别诊断及疾病发展观察中起重要作用;颈部MRI检查为HD诊断提供可靠依据.     

139例肌萎缩侧索硬化临床及肌电图表现特点

目的 探讨肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)的临床及电生理特征,为早期准确诊断ALS提供依据.方法 回顾性研究近5年来收治的门诊及住院139例肌萎缩侧索硬化患者的临床及电生理表现,对其发病特点、症状、体征及实验室检查进行统计分析.结果 ALS在临床上慢性隐袭起病,逐渐进展,50岁前后发病,平均年龄49.1岁,平均病程2.4年.男性明显多于女性.首发症状为单侧上肢肌肉无力和肌肉萎缩最常见,其次为肌束震颤、延髓麻痹、锥体束征等,少数患者可出现肢体麻木、疼痛或发凉等感觉异常.临床主要症状是肢体无力、肢体和舌肌肌肉萎缩、锥体束征、肢体和舌肌肌束震颤.所有ALS侵害的部位均表现神经源性损害,胸锁乳突肌肌电图检查、胸脊旁肌肌电图、头部/颈/腰椎CT及MRI等辅助检查具有重要的确诊及鉴别诊断意义.结论 目前ALS的诊断仍然依靠临床表现.肌电图、CT/MRI是ALS诊断和鉴别诊断的重要辅助手段.     

炎症性肌病中磁共振成像的诊断价值

目的探讨炎性肌病中磁共振成像的表现及其诊断价值。方法对16例多发性肌炎、3例包涵体肌炎行双下肢磁共振成像SE序列T1WI,快速自旋回波序列(FSE)T2WI扫描。结果多发性肌炎与包涵体肌炎均表现为:在T1WI上为等T1信号,在快速自旋回波序列T2WI上表现为两侧对称性、小片状分布的稍高信号,肌束形态无明显异常,肌束界限清楚。结论磁共振成像是诊断炎性肌病有效的辅助方法。自旋回波序列(FSE)T2WI是诊断肌炎最敏感的序列,对肌炎肌肉活检的部位的选择有指导意义。     

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。     

实时超声弹性成像在腕管综合征诊断中的价值

目的探讨实时超声弹性成像(UE)在腕管综合征诊断中的临床意义。方法选取2016-01—12我院收治的50例疑似腕管综合征患者行常规超声和UE扫查,以弹性成像5分法评估UE图像,将UE评分、常规超声及两者联合应用诊断腕管综合征的结果分别与手术结果进行对照。结果常规超声、UE及两者联合诊断腕管综合征的敏感度分别为66.7%、73.3%、83.3%,特异度分别为65%、75%、85%,一致率分别为66%、74%、84%,二者联合应用诊断腕管综合征的敏感度、一致率均高于单独UE评分及常规超声(P0.05)。结论联合应用UE和常规超声可提高超声评估腕管综合征的准确率。     

偏侧萎缩症的临床与病理研究 (附1例报道及文献复习)

目的了解偏侧萎缩症的临床特点、病理组织学和超微结构改变。方法对1例单纯右下肢萎缩患者的临床表现、实验室检查、组织病理学及超微结构进行分析。结果患者右下肢皮肤变薄,皮下组织几乎消失,肌肉轻度萎缩,骨骼变短,神经系统检查和相关实验室检查均无异常,患肢皮肤和肌肉活检在光镜下见肌纤维散在萎缩,肌膜炎性细胞浸润,血管壁明显增厚,管腔狭窄,皮肤各层组织变薄,皮下脂肪组织减少;电镜下见在有病变的肌纤维内线粒体减少并空泡样变,肌细胞胞核数目减少,胞核周围胞浆内可见异常颗粒沉积。结论单纯一个肢体萎缩可能是偏侧萎缩症的一个特殊类型。     

僵人综合征1例报道

目的探讨僵人综合征的临床表现、电生理特点及治疗方法。方法分析1例僵人综合征患者的临床资料,探讨其临床特点、肌电图、相关检查及预后。结果患者主要临床表现为典型的肌肉僵硬和痛性痉挛,辅助检查示谷氨酸脱羧酶抗体GAD(+),肌电图检查显示左腓肠肌、右胫前肌静息期呈持续性正常运动单位电位发放;右股内侧肌静息期可见正常运动单位电位发放。给予苯二氮类药物联合肌肉松弛剂治疗,症状明显好转,出院后随访疗效满意。结论僵人综合征临床常表现为躯干、四肢及颈部肌肉持续性或波动性僵硬,腹肌坚实,主动肌和对抗肌可同时受累,体内可检出特异性自身抗体,肌电图有肌肉强直表现。苯二氮类药物联合肌肉松弛剂治疗本病效果显著。     

痉挛-肌束震颤综合征伴随肛门和尿道括约肌痉挛1例分析

目的报道1例伴随肛门和尿道括约肌痉挛的痉挛-肌束震颤综合征的临床、神经电生理和骨骼肌病理改变特点。方法患者为46岁男性,5年前出现阵发性双小腿痉挛疼痛和肉跳,逐渐向上发展至胸、背、颈部和上肢,2年前出现肛门痉挛、排尿困难和双下肢肌肉萎缩无力。查体发现舌肌震颤,双上肢远端肌力Ⅴ-级,双下肢近端肌力Ⅳ 级,远端肌力近0级,双下肢肌肉萎缩,躯干和四肢肌肉均有肌束颤动,双侧腹壁反射和提睾反射均未引出,四肢肌腱反射活跃。肌酸激酶轻度增加。对患者进行肌肉活检和肌电图检查。结果肌电图为神经源性损害。肌肉活检可见小角样萎缩的肌纤维成小组分布,累及两个肌纤维类型,伴随肌纤维肥大。结论痉挛-肌束震颤综合征可以存在骨骼肌的萎缩和无力,也可以出现肛门和尿道括约肌的兴奋性增加,骨骼肌存在神经原性的损害。     

Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy

To elucidate autonomic function in spinal muscular atrophy, we evaluated finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in 10 patients with spinal muscular atrophy: 7 of type 1, 2 of type 2, and 1 of type 3. Results of finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation were compared with those of healthy children. Finger cold-induced vasodilatation was abnormal in 6 of 10 patients with spinal muscular atrophy; it was normal in the healthy children. The mean sympathetic skin response latency and amplitude did not differ significantly from those of the healthy children. Amplitudes of sympathetic skin response to sound stimulation were absent or low in all six patients with spinal muscular atrophy. No significant difference was found in the mean R-R interval variation of patients with spinal muscular atrophy and healthy children. Results show that some patients with spinal muscular atrophy have autonomic dysfunction, especially sympathetic nerve hyperactivity, that resembles dysfunction observed in amyotrophic lateral sclerosis.     

Electrophysiological estimation of motor units in limb-girdle muscular dystrophy and chronic spinal muscular atrophy

A comparative clinical and electrophysiological study of the extensor digitorum brevis (EDB) muscle of patients with limb-girdle muscular dystrophy and patients with chronic spinal muscular atrophy is presented. A firm diagnosis was based upon extensive clinical and laboratory findings. The results are compared with those obtained in control subjects. The mean duration of the illness was greater in the limb-girdle muscular dystrophy group.The EDB muscle shows extreme hypertrophy in nearly all patients with limb-girdle muscular dystrophy while it is usually atrophic and weak in patients with chronic spinal muscular atrophy. Hypertrophy of the EDB muscle in limb-girdle muscular dystrophy was also indicated by the high amplitude of the maximal evoked response of this muscle in muscular dystrophy; whilst small amplitude maximal evoked responses were obtained in chronic spinal muscular atrophy.It is proposed that hypertrophy of the EDB muscle may be a useful clinical criterion in differential diagnosis of cases with progressive proximal muscular atrophy. The hypertrophy of the EDB muscle in limb-girdle muscular dystrophy is considered similar to the compensatory hypertrophy of the gastrocnemius muscle seen in Duchenne muscular dystrophy.The estimated mean amplitude of motor units has a tendency to be higher in limb-girdle muscular dystrophy as compared with control values; it was greatly enhanced in chronic spinal muscular atrophy.Finally, the number of motor units was within normal limits in the limb-girdle muscular dystrophy group whilst a pronounced reduction was observed in chronic spinal muscular atrophy.Our findings indicate that: (a) the EDB muscle behaves differently in the 2 diseases; (b) there is no loss of functioning motor units in limb-girdle muscular dystrophy; and (c) there is no electrophysiological evidence to support the neural hypothesis proposed lately as accounting for limb-girdle muscular dystrophy.     

Intelligence and cognitive function in children and adolescents with spinal muscular atrophy.

Spinal muscular atrophy is a chronic disease characterised by loss of motor function. The aim of the study was to analyse cognitive functions in a large group of patients with spinal muscular atrophy. It was hypothesised that their intelligence is comparable to controls, but not above average as previously postulated. Ninety-six children and adolescents with spinal muscular atrophy I-III, aged 6.0-18.11 years, 45 non-affected siblings and 59 healthy, matched controls were examined with one- (CPM/SPM), as well as multi-dimensional intelligence tests (Kaufman-ABC; Wechsler tests). The mean IQ measured with the CPM/SPM tests was 109.6 for the spinal muscular atrophy group, 107.3 for the sibs and 104.1 for the healthy controls (no significant difference). In the older children and adolescents (SPM only) the mean IQ was significantly higher for the spinal muscular atrophy patients (109.6) than for the controls (95.4). The standard score in the 'mental processing composite' scale of the Kaufman-ABC was identical in the spinal muscular atrophy group and controls (103.8). The cognitive profile was relatively homogeneous. However, the older children and adolescents did have a significantly higher verbal IQ (113.8) than controls (104.6) in the Wechsler tests. There were no significant differences in any of the tests among different grades of severity (spinal muscular atrophy types I-III). It can be concluded that children and adolescents with spinal muscular atrophy have a general intelligence in the normal range. By adolescence, environmentally mediated aspects of intelligence are higher in patients with spinal muscular atrophy. It could be speculated that the development of cognitive skills and knowledge is a creative way to compensate the many restrictions due to their physical handicap.     

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy

Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder with progressive weakness and atrophy of voluntary muscles. The survival motor neuron gene (SMN) is present in two highly homologous copies (SMN1 and SMN2) on chromosome 5q13. Homozygous deletion of exons 7 and 8 of SMN1 is responsible for spinal muscular atrophy. In spinal muscular atrophy patients, SMN2 partially compensates for the lack of SMN1. Previously, we reported the relatively high incidence of a large deletion including the SMN1 region in Japanese spinal muscular atrophy type I patients. In order to further establish the genetic background of Japanese spinal muscular atrophy type I patients, we investigated the SMN1/SMN2 ratio in the carriers. In normal individuals, there is one copy of each gene on the chromosome (the SMN1/SMN2 ratio was 1). Among 15 carriers (14 parents and one carrier sibling of Japanese type I spinal muscular atrophy patients with homozygous deletion of exons 7 and 8 of SMN1), we found that the SMN1/SMN2 ratio was 0.5 or 1 in 11 (73.3%) carriers. The remaining four carriers had an SMN1/SMN2 ratio of 1/3. This finding supports the idea that deletion rather than conversion is the main genetic event in type I spinal muscular atrophy. In addition, the ratio of SMN1/SMN2 among Japanese carriers, which was thought to be higher than that of the Western population, was compatible with the results obtained in Western populations. For further insight into the characteristic genetic background of spinal muscular atrophy in Japanese, determination of the gene copy number is essential.     

Mitochondrial respiratory chain dysfunction in various neuromuscular diseases.

The mitochondrial respiratory chain function and the occurrence of mitochondrial respiratory chain dysfunction were determined in various neuromuscular diseases. The mitochondrial complexes I-V and citrate synthase in the skeletal muscle taken from 75 orthopaedic surgical patients excluding neuromuscular diseases (control subjects) and 26 patients with various neuromuscular diseases (7 patients with Duchenne muscular dystrophy, 3 patients with spinal muscular atrophy, 6 patients with mitochondrial diseases, 7 patients with type II fibre atrophy and 3 patients with neuropathy) were assayed. Of 26 patients, results of analysis of 3 patients (1 Duchenne muscular dystrophy, 1 spinal muscular atrophy and 1 type II fibre atrophy) were excluded because the citrate synthase activities in their muscle homogenate were less than third percentile of the normal controls. As compared to the control subjects by using Student's t-test, all studied groups of patients had significantly lower activities of more than one or two mitochondrial complexes (p<0.05). However, a significantly higher activity of mitochondrial complex I was observed in patients with mitochondrial diseases (p<0.05). These findings will require further study to elucidate the pathogenesis and role of secondary mitochondrial respiratory chain dysfunction in such neuromuscular diseases.     

Single fibre electromyography in various processes affecting the anterior horn cell

SFEMG recordings were carried out in patients with amyotrophic lateral sclerosis, progressive muscular atrophy, familial spinal muscular atrophy and syringomyelia. The fibre density was increased in all conditions, especially in progressive muscular atrophy indicating marked collateral sprouting. The duration of the action potential was increased indicating a mixture of hypertrophic and atrophic fibres and slowly conducting newly formed nerve sprouts. The action potentials were unstable with varying degree of impulse blocking especially in the more progressive cases (ALS), representing recent re-innervation. The SFEMG method is used to characterize the functional status of the motor unit and helps in diagnosis and in predicting prognosis. In addition, SFEMG recordings reveal abnormalities in clinically and electromyographically normal muscles.     

Chronic spinal amyotrophy involving the upper limbs in young adults (O'Sullivan and McLeod syndrome). MRI study of the cervical spinal cord

In 5 cases of sporadic spinal muscular atrophy in young adults the muscular atrophy was localized in the hands and forearms. Age at onset ranged from 7 to 20 years. The duration of the disease was less than 5 years in 3 patients and more than 15 years in 2. Electromyography showed neurogenic anomalies in all wasted muscles, denervation potentials being also present in the proximal muscles of the upper limbs and distal muscles of the lower limbs in 2 patients. Motor nerve conduction velocity and sensory nerve action potentials were normal. Advantages of a topographic classification of the distal form of chronic spinal muscular atrophy are discussed. Spinal cord MRI was performed in 4 patients with a 0.5 Tesla superconducting magnet using surface coils, using a T1-weighted spin-echo technique (ET 26 ms; RT 500 ms) and a T2-weighted spin-echo technique (ET 90, 180 ms; 2,000 ms). With the T1 technique, axial MRI sections 7 to 9 mm thick of spinal cord showed a normal image between C1 and C4, and a flattened image between C5 and T1. This was considered as a possible spinal cord segmental atrophy.     

Balancing as a clinical test in the differential diagnosis of sensory-motor disorders.

During balancing on a seesaw normal individuals have a mean sway oscillation of 4.3 Hz, which is significantly lower (3.3 Hz) in patients with peroneal muscular atrophy. It is assumed that the oscillations in both cases are generated by spinal stretch reflexes and that the lower frequency in patients with peroneal muscular atrophy is due to their slower nerve conduction velocity. The balancing movements are altered when spinal stretch reflex activity is reduced by ischaemia but are normal in patients with a dorsal column lesion despite a similar sensory loss. The analysis of balancing movements can be a diagnostic tool in differentiating several sensory-motor disturbances.     

Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy

Two female patients with clinical features resembling spinal muscular atrophy were presented. Patient 1 presented with hypotonia and proximal weakness of extremities at age 4 months. Electromyography revealed motor neuronopathy suggestive of spinal muscular atrophy. Patient 2 presented with severe hypotonia, motor weakness, and joint contractures since birth. Muscle biopsy findings were consistent with spinal muscular atrophy. However, deletions in the survival motor neuron gene and the neuronal apoptosis inhibitor protein gene were not found in both patients. They finally manifested clinical features unlike spinal muscular atrophy: epileptic seizure, cardiomyopathy, and spasticity. The clinical course of each patient was not like that of spinal muscular atrophy type I. Mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts were measured. Respiratory complex I enzyme activity was decreased, suggestive of isolated complex I deficiency in both patients. In conclusion, in patients who have clinical features resembling spinal muscular atrophy but no deletions in the spinal muscular atrophy gene, the possibility of the mitochondrial respiratory chain complex I deficiency should be considered.     

Double cortical stimulation in amyotrophic lateral sclerosis.

OBJECTIVE: Transcranial double magnetic stimulation on the motor cortex was used to investigate central motor tract function in 16 patients with amyotrophic lateral sclerosis, five with spinal muscular atrophy, and 16 age matched normal controls. METHODS: Surface EMG responses were recorded from the relaxed abductor pollicis brevis (APB) muscle. RESULTS: Responses to test stimuli were markedly attenuated by a subthreshold conditioning stimulus given at a condition-test (C-T) interval of 1-4 ms in normal controls and patients with spinal muscular atrophy, but attenuation was mild in patients with amyotrophic lateral sclerosis. In the normal controls this suppression was caused by activation of the intracortical inhibitory mechanism because responses to electrical test stimuli and the H wave were not suppressed by the same magnetic subthreshold conditioning stimulus. In amyotrophic lateral sclerosis the effect of the conditioning cortical stimulus on the H wave was also in the normal range. CONCLUSION: The intracortical inhibitory mechanism may be impaired in patients with amyotrophic lateral sclerosis.