肌酸磷酸激酶增高的脊髓性肌萎缩症患者临床与肌电图分析

目的：观察血清肌酸磷酸激酶（CK）增高的脊髓性肌萎缩症（SMA）患者临床与肌电图的关系。方法：收集10例CK增高的SMA病例，进行临床及肌电图分析，其中6例作了肌肉活检。结果：CK增高可见于脊髓性肌萎缩各型，升高的程度各有不同。肌电图检查除2例为混合性损害外，余8例均为神经源性损害。肌肉活检除1例为肌性改变外，余均为神经源性肌萎缩。结论：CK增高不能作为SMA与进行性肌营养不良的鉴别诊断指标。在诊断SMA时，当肌活检为肌性损害，反复多次的肌电图的结果更可靠；当肌电图结果不明确时，肌活检结果为确定诊断的最可靠依据。     

肌营养不良症患者肌电图诊断指标的研究

目的:探讨肌营养不良症的肌电图诊断方法的规范性,以利于临床的诊断和治疗.方法:以沈定国专著中我国正常人骨骼肌运动单位电位(MUP)、神经传导速度(NCV)等的正常值作为依据.收集临床确诊的肌营养不良症患者30例,以及正常对照组30例进行常规肌电图检测.结果:符合肌原性损害的占69.5%,还有少量表现为神经原性损害.在某些肌肉既有肌原性损害的特征,又有神经原性损害的特征.结论:肌营养不良症肌电图表现并非仅仅是肌原性损害,还有神经原性损害、肌原性一神经原性混合性损害,因此肌电图不是肌原性损害者亦不能否定肌营养不良症的诊断.     

运动神经元病临床与骨骼肌病理112例诊断分析

目的探讨骨骼肌病理诊断运动神经元病的临床价值。方法112例MND患者进行神经电生理和活检骨骼肌病理分析,对MND进行鉴别。结果112例患者肌电图呈神经源性异常,确诊ALS(肌萎缩侧索硬化)94例、SMA(脊髓性肌萎缩症)12例、肯尼迪病6例;骨骼肌病理符合神经源肌病改变。结论 MND表现为下运动神经元受累者行骨骼肌活检病理分析可以有效鉴别ALS和SMA。     

肌电图在胸廓出口综合征、平山病和颈椎病诊断与鉴别诊断中的应用

目的：探讨神经肌电图检查在胸廓出口综合征（TOS）、平山病（HD）及神经根性颈椎病（CS）的诊断与鉴别诊断中的应用价值。方法：回顾分析I临床及肌电图诊断的TOS下干型30例（手术证实）、HD30例（神经内科确诊标准）,CS30例（15例手术确诊,15例核磁共振证实）病人的神经肌电图检查结果。结果：HD100％呈C8-T1神经原性损害,感觉神经功能正常;下干型TOS呈神经原性损害者为33％,感觉功能异常者为96％;CS呈节段性神经原性损害者为10％,感觉神经功能多为正常。结论：神经肌电图检测对HD、TOS及CS的诊断与鉴别诊断具有重要价值。     

X-连锁的婴儿脊肌萎缩症

脊髓性肌肉萎缩症(SMA)又名Werdning-Hoffmann麻痹,目前认为是一种常染色体隐性遗传病。本病分急性、亚急性和慢性三型,分别见于婴儿、少年和成年人。本文报告4例婴儿急性SMA,但家族史分析强烈支持性染色体X-连锁隐性遗传。病历报告:4名男婴的母亲均无妊娠合并症。婴儿出生时均有肌张力低下,四肢挛缩和无神经反射等SMA典型表现。病例1、2和4尚伴有股骨、肱骨骨折。他们的肌肉活组织检查均符合急性SMA的神经原性肌萎     

神经根型颈椎病和腕管综合征的神经肌电图诊断与鉴别诊断

目的：探讨神经肌电图检查在神经根型颈椎病和腕管综合征中诊断及鉴别诊断的意义。方法：对临床上诊为神经根型颈椎病和腕管综合征的病例142例进行神经肌电图检查。结果：56例临床诊为神经根型颈椎病病例的肌电图中24例（43％）符合神经根型颈椎病,10例（18％）符合腕管综合征。86例临床诊为腕管综合征的患者,其中,42例（49％）符合腕管综合征,10例（12％）符合神经根型颈椎病。两组共有15例（11％）符合神经根性颈椎病合并腕管综合征。神经根型颈椎病神经原性损害主要在C6,C7水平。腕管综合征主要表现正中神经受损,其神经原性损害主要在C8水平（拇短展肌）。结论：神经肌电图检测对神经根型颈椎病和腕管综合征的诊断及鉴别诊断有重要价值。     

舌肌肌电图对运动神经元病诊断价值探讨

目的:探讨舌肌肌电图(EMG)对运动神经元病(MND)的诊断价值。方法:对22例 MND患者[其中肌萎缩侧索硬化(ALS)13例,脊肌萎缩症(SMA)9例]进行常规EMG及胸锁乳突肌和舌肌EMG检查,并比较其结果。结果:MND患者EMG舌肌纤颤电位阳性率为59％,而临床表现舌肌纤颤仅32％,EMG敏感性高于临床表现,但经统计学分析差异不明显。ALS与SMA两组常规EMG 比较无明显差异。ALS组舌肌EMG纤颤电位62％(8／13例),胸锁乳突肌纤颤电位39％(5／13例),两者比较差异无统计学意义,但SMA组舌肌纤颤电位阳性率为56％(5／9),胸锁乳突肌EMG无纤颤电位,两者比较差异有统计学意义(P<0.05)。结论:舌肌EMG可作为诊断运动神经元病重要的辅助手段,其诊断价值高于胸锁乳突肌EMG,尤其对SMA病例,与胸锁乳突肌EMG相结合则诊断价值更大。     

多发性肌炎和皮肌炎患者的临床与肌电图分析

目的 :探讨多发性肌炎 (PM)和皮肌炎 (DM)病人的临床与肌电图特征。方法 :对 74例PM和DM临床与肌电图特征进行分析。结果 :首发症状以肌肉无力为最多见 (占 3 4% ) ,其他依次为皮肤损害 (占 3 1% ) ,发热 (占 13 % )。肌电图检查示肌原性损害 64例 ,神经原性损害 2例 ,异常率为 89%。主要表现为插入电位延长 (9% )、出现自发电位 (5 2 % ) ;MUP时限缩短 (74% )、MUP波幅降低 (6% ) ,多相波增多 (3 4% ) ;重收缩时波型异常 (4 5 % )及峰值波幅降低 (3 7% )。股四头肌、胫前肌及肱二头肌组阳性率显著高于外展拇短肌组 (P <0 0 5 ) ,胫前肌组MUP时限缩短阳性率最高 ,多相波增多阳性率胫前肌组最高。结论 :肌电图检查是诊断PM和DM的重要手段 ,选择股四头肌、胫前肌及肱二头肌进行EMG检查阳性率最高     

假性肥大性肌营养不良症患儿的超声、肌电图及病理活检研究

目的:探讨迪谢内(Duchenne)进行性肌营养不良症(DMD)患者的肌肉超声、肌电图和病理的特点及其对DMD的诊断价值.方法:应用超声检测15例DMD患者的肌肉,依次对臀部、大腿部、小腿部肌肉行纵切及横切位超声扫查,并进行常规肌电图检查和小腿腓肠肌活检HE染色作病理组织学检查.结果:肌肉超声显示肌肉纹理模糊不清,网络连续性中断或消失,回声弥漫性增强或降低,有短线状回声增强.骨回声清晰,肌肉回声强度二级.肌肉声像图随着病程的增长,萎缩肌肉自臀肌、大腿股四头肌、股二头肌和腓肠肌、背肌依次发展而肌束膜回声逐渐增高、增厚,肌肉超声改变以股四头肌尤显.肌电图检查为肌原性改变.肌活检见肌纤维萎缩、变性、坏死,符合肌营养不良之改变.结论:肌电图及超声可为DMD的诊断提供客观依据.     

进行性肌营养不良患儿的临床及肌电图分析

目的:探讨进行性肌营养不良(PMD)患儿的临床和肌电图特点.方法:回顾性分析35例进行性肌营养不良患儿的临床和肌电图资料.结果:35例PMD患儿中,Duchenne型肌营养不良型占85.7%,出现进行性加重的四肢肌无力和萎缩,血清肌酸激酶(CK)明显增高,肌电图显示自发电位的出现率为21.4%,轻用力时均出现短时限、低波幅的运动单位电位,神经传导速度大致正常.结论:PMD的诊断及分型应依据临床特点、肌电图及肌活检结果综合分析.     

A clinical and genetic study of spinal muscular atrophy

AIMS: This study evaluates clinical, electromyography (EMG) and genetic analysis of consecutive patients with spinal muscular atrophy (SMA) in a tertiary care adult neurology practice in India. METHODS: Consecutive patients with SMA attending the neurology out patient department during 2001-2003 were included. They were subjected to a detailed clinical examination, nerve conduction and EMG and muscle biopsy. Clinically patients were classified into generalised and segmental SMA. SMN gene deletion study was carried out in all the patients. RESULTS: There were 15 patients with type III and type IV SMA and 15 with segmental SMA (Hirayama disease). The age ranged between 5 and 23 years in type III SMA, 33-50 years in type IV SMA and 16-30 years in Hirayama disease (HD). The latter was found exclusively in males. Family history was observed in 1 patient each in all the groups. In SMA III mother and brother were affected, in SMA IV two siblings and in HD one brother had similar disease. One type III SMA family was associated with deafness and one type IV family had strong association with maturity onset diabetes in young. The EMG was characterised by lack of fibrillations in all type III and IV SMA patients except 1 whereas in HD, 11 out of 15 had fibrillations suggesting ongoing denervation. The EMG was suggestive of reinnervation in generalised SMA in both upper and lower limb muscles where as these abnormalities were restricted to C7-T1 mytomes in HD. Muscle biopsy in 10 patients with generalised SMA revealed group atrophy in all, and loss of fascicular architecture in 3, clumping of nuclei in 7 and hypertrophic fibers in 4. SMN1 gene deletion was present in 3 patients with type III but none in type IV and HD. CONCLUSION: SMN gene deletion was positive in 33% type III SMA whereas it was negative in type IV and HD. Presence of HD only in males may be consistent with X-linked disorder.     

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

Clinical and genetic findings are presented in 18 patients, from 7 pedigrees with different types of spinal muscular atrophy (SMA). The SMA diagnosis was based on EMG and muscle biopsy findings. All 7 pedigrees show an unusual genetic pattern, not consistent with simple autosomal recessive inheritance. Furthermore, in 6 of the 7 pedigrees different types of SMA were present within each pedigree. Our findings can be explained by an extension of a multiple alleles hypothesis originally described by Becker in 1964.     

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motoneurons and skeletal muscle atrophy. In its most severe form, it leads to death before the age of 2 years. While primary degeneration of motor neurons is well established in this disease, and this results in neurogenic atrophy of skeletal muscle, we have previously reported evidence for a primary muscle defect. In this study, we used primary cultures of embryonic human skeletal muscle cells from patients with SMA and from controls to examine the effects of muscle fiber differentiation in the absence of a nerve component. Cultured SMA skeletal muscle cells are unable to fuse correctly to form multinuclear myotubes, the precursors of the myofibers. We also show that agrin-induced aggregates of nicotinic acetylcholine receptors, one of the earliest steps of neuromuscular junction formation, cannot be visualized by confocal microscopy on cells from SMA patients. In binding experiments, we demonstrate that this lack of clustering is due to defective expression of the nicotinic acetylcholine receptors in the myotubes of SMA patients whereas the affinity of alpha-bungarotoxin for its receptor remains unchanged regardless of muscle cell type (SMA or control). These observations suggest that muscle cells from SMA patients have intrinsic abnormalities that may affect proper formation of the neuromuscular junction.     

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype

Rare cases of suspected spinal muscular atrophy (SMA) have been found to have cytochrome c oxidase (COX) deficiency. To date, four cases with SMA features have been reported in children with mutations in the synthesis of cytochrome oxidase 2 (SCO2) gene. We report a male neonate who was born hypotonic, with persistent lactic acidosis, spontaneous activity with EMG testing, development of respiratory distress in the first few hours of life, and died at 30 days of age with progressive cardiomyopathy. Testing for survival motor neurone (smn) and NAIP deletions were negative and a skeletal muscle biopsy showed neurogenic features with severe reductions of COX enzymatic and histochemical staining intensity. Post-mortem muscle, heart, and liver biopsies showed severe, moderate, and mild reductions in COX activity, respectively, with parallel findings in the protein content for the mitochondrial DNA (COII) and nuclear DNA (COIV) encoded subunits. DNA sequencing of exon 2 of the SCO2 gene revealed compound heterozygosity with mutations at G1541A (common mutation, E140K) and also at a novel site in the copper binding region (G1521A in the current case (converting a highly conserved cysteine to tyrosine [corrected] (C133Y) [corrected]); mother heterozygous for G1521A; and father heterozygous for G1541A). This case provides strong support that SCO2 mutations can result in neonatal hypotonia with an SMA 1 phenotype. SCO2 mutations should be screened in suspected SMA cases with normal smn mutation analysis and any one of; cardiomyopathy, lactic acidosis, or COX deficiency in muscle.     

Electrophysiological assessment in neurogenic thoracic outlet syndrome.

OBJECTIVES: To evaluate the value of different electrophysiological techniques in the diagnosis of neurogenic thoracic outlet syndrome (TOS). MATERIALS AND METHODS: Two females, aged 22 and 30 years, with progressive weakness and wasting of the right hand with slight sensory disturbances. Needle EMG, motor and sensory conduction along median and ulnar nerves, sensory conduction of medial (MACN) and lateral (LACN) antebrachial cutaneous nerves. RESULTS: Chronic neurogenic atrophy in small hand muscles, more severe in lateral part of thenar eminency, reduced compound muscle action potentials (CMAPs) more severe by median than ulnar stimulation, and reduced amplitude of the SNAPs of ulnar and MACN were the main findings consistent with neurogenic TOS. Both patients had right cervical rib in radiography. CONCLUSIONS: Electrophysiological study is useful in the diagnosis of neurogenic TOS. Reduced amplitude of MACN and ulnar nerve SNAPs, predominant denervation in thenar eminency, and reduced amplitude of CMAPs, more by median than by ulnar stimulation, are consistent with the diagnosis.     

Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family

Background: The objective of this study was to examine the clinical, pathological and genetic features of a family suffering from hereditary endotheliopathy with retinopathy and encephalopathy. Methods: The index case was male, and his symptoms were detected at 18 years of age. The clinical manifestation included recurrent headache, fever, consciousness disturbances and haemiplegia. Bilateral cerebral hemispheric lesions were detected via MRI as low signals on T1 and high signals on T2 and FLAIR, with moderate enhancement. Video EEG revealed an increase in the slow wave frequency. An EMG displayed neurogenic atrophy. Similar clinical and imaging characteristics were detected in his mother and his uncle. Pathological examinations of the brain, muscle and sural nerve were performed on the index case. Sequence analysis of the TREX1 gene was performed on the index case, his sister and his father. Results: A brain biopsy revealed spongiform alterations as well as inflammatory cell infiltration in a few small vessels. Neurogenic muscular atrophy was detected based on a biopsy of the muscle. Demyelination was detected based on a biopsy of the sural nerve. Electron microscopic examination of the sural nerve revealed thickening and delamination of the basement membrane. No reported TREX1 gene mutation was detected for any of the patients. Conclusion: Hereditary endotheliopathy presented with peripheral nerve involvement. Multi-laminar thickening of the basement membrane of the capillaries also appeared in the extracerebral tissue. The involvement of a novel gene should be further examined.     

Pathologic features of muscle in systemic lupus erythematosus: a biopsy series with comparative clinical and immunopathologic observations

Clinical evidence of skeletal muscle involvement is frequent in systemic lupus erythematosus (SLE). In order to characterize the manifestations of SLE in skeletal muscle, a biopsy series on 19 patients with SLE was studied in terms of the histologic, histochemical, and direct immunofluorescent features of skeletal muscle. The results were correlated with clinical and laboratory data. The histologic spectrum included inflammatory myopathy, vasculitis, perifascicular atrophy, and neurogenic atrophy. Histochemical examination revealed type I fiber predominance in 44 per cent of patients and selective type II fiber atrophy in 33 per cent. Direct immunofluorescent examination of skeletal muscle biopsy specimens revealed immunoglobulin and complement deposition in vessel walls, in sarcolemmal basement-membrane areas, and within non-necrotic muscle fibers. The histologic, histochemical, and immunochemical findings are correlated with the findings in other organ systems.     

Neuromuscular features in Marfan syndrome

Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography (EMG), muscle ultrasound, laboratory investigation, and muscle biopsy. Existing neuroimages were screened for dural ectasia and spinal meningeal cysts. Twenty healthy controls with similar age distribution completed the questionnaire.
The results showed that various neuromuscular symptoms occur more frequently in the patients. Four older patients reported muscle weakness, five patients had a mild-to-moderate reduction in vibration sense, and all older patients mentioned mild functional impairments. NCS showed axonal polyneuropathy in four and EMG myopathic and neurogenic changes in all patients. Increased echo intensity and atrophy on muscle ultrasound was found in more than half of the patients. Muscle biopsies obtained in two patients showed myopathic changes in the older, female patient.
In conclusion, the majority of Marfan patients exhibited neuromuscular symptoms characterized as myopathy or polyneuropathy or both, and signs of lumbosacral radiculopathy, with symptoms being most pronounced in the older patients. Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population.     

HISTOMETRICAL and HISTOLOGICAL CHANGES OF THE SKELETAL MUSCLE IN NEUROMUSCULAR DISORDERS – AN AUTOPSY STUDY

Systemic hlstometrical and histological examinations of major skeletal muscles were performed by using autopsy cases with simple atrophy, neurogenic muscular atrophy, Duchenne type progressive muscular dystrophy, myositis of myasthenia gravis, and autopsy control cases. In hlstometrical studies, the shortest diameters of muscle fibers were measured and arranged in histograms. Volume ratio of stroma to muscle was measured by point-counting method.
Histometrical studies revealed the following results: (1) averages of muscle fiber diameters in controls showed the largest value In the muscles of the upper and lower extremities, and the smallest value in the lingual muscle; (2) in simple atrophy, neurogenic muscular atrophy, progressive muscular dystrophy and myositis, a decrease in muscle fiber diameters was more prominent in the muscles of the lower extremities than those of the upper extremities; (3) patterns of histograms of muscle fiber diameters were classified into six types, and in simple atrophy, almost one-half of muscles examined belonged to type 3 histogram, which had the mode situated at a relatively small diameter and a not so high kurtosls; (4) volume ratios of stroma to muscle Increased most in both muscular dystrophy and long-standing neurogenic muscular atrophy, moderately in myositis, and mildly in simple atrophy; and (5) hlstometrical changes In myasthenia gravis were minimal.