婴儿型脊肌萎缩症的神经电生理特点

目的探讨婴儿型脊肌萎缩症(SMA)的神经电生理特征。方法采用肌电/诱发电位仪对27例SAM患儿进行神经传导速度测定,每例进行至少6块肌肉的EMG检查,分析检查结果。结果婴儿型SMA正中神经复合肌肉动作电位(CMAP)波幅显著下降,尺神经与腓总神经的CMAP波幅明显下降,伴有尺神经运动传导速度的轻度减慢;所记录感觉神经传导未见明显异常。EMG提示神经源性损伤。结论婴儿型SMA典型临床症状为进行性加重的对称性肌肉无力和萎缩,特异性的神经电生理表现为本病的诊断提供重要的依据。     

脂质沉积性肌病临床与神经电生理分析

目的 分析脂质沉积性肌病(LSM)的临床及神经电生理特点,旨为早期诊断提供帮助.方法 回顾性分析18例经肌肉活检病理确诊的LSM患者的临床和神经电生理资料,神经电生理资料包括双侧股四头肌、三角肌的同心圆针电极检查资料以及-侧上肢正中神经及尺神经感觉、运动神经传导速度和-侧正中神经F波检测.结果 肌电图表现正常占38.9％;神经源性损害占38.9％;肌源性损害占16.7％;既有神经源性又有为肌源性损害占5.6％;检测72条神经纤维表现为波幅下降占37.5％,表现为传导速度和或潜伏期延长占12.5％,F波异常27.8％.结论 LSM肌电图表现并非如肌炎及其他类型肌病以肌源性损害多见,而多表现为正常或神经源性损害.     

4例婴儿型脊肌萎缩症家系临床病理分析

目的：分析4例阳性家庭史的婴儿型脊肌萎缩症患儿临床病理表现，探讨本病的临床病理特点及早期诊断要点。方法：回顾分析4例经病理学检查证实的婴儿型脊肌萎缩症患儿的临床资料及病理学改变。结果：患儿多在1岁内起病，呈进行性弛缓性对称性四肢瘫痪，以下肢、近端明显，血清CPK、LDH正常。肌电图为失神经性支配。肌活检呈神经性肌萎缩，常累及整个肌束。本组患儿3例死亡，1例瘫痪。结论：确诊本病应结合临床特点，肌电图表现及神经肌肉活检改变等，这些在鉴别诊断中有重要价值，为进一步基因检测研究奠定了基础。     

20例慢性酒精中毒性周围神经病患者的肌电图分析

目的 探讨肌电图对慢性酒精中毒性周围神经病的诊断价值.方法 对20例慢性酒精中毒患者进行肌电图检查,检测运动神经传导速度和感觉神经传导速度以及观察肌肉在静息、轻收缩、重收缩时的情况.结果 四肢运动和感觉传导速度较正常值有不同程度的减慢.但感觉神经受累较运动神经重,下肢受累较上肢重.肌肉检查可见不同程度的神经源性损害表现.结论 肌电图对慢性酒精中毒性周围神经病的检查为临床诊断提供客观准确的依据.     

脊髓性肌萎缩症8例临床分析

目的探讨脊髓性肌萎缩症(SMA)的临床特点。方法对8例脊髓性肌萎缩患者的临床资料进行回顾性分析。结果 8例患者均于生后6月内发病,四肢对称性,弛缓性瘫痪,下肢重于上肢,近端重于远端,表情肌不受累。2例伴延髓性麻痹,血清肌酶均正常,6例肌电图呈神经源性损伤,3例肌活检提示肌纤维萎缩、变形、坏死,1例SMA的致病神经元存活基因(SMN1)基因第7和第8外显子纯和缺失,7例于2岁内夭折,1例在随访中。结论婴儿型脊髓性肌萎缩具有典型的临床表现及肌电图特征。肌电图检查是重要的诊断方法,基因测定是金标准。     

Emery-Dreifuss型肌营养不良研究进展

进行性肌营养不良症(progressive muscular dystrophy,PMD)[1]是一组遗传性肌肉变性疾病,其临床特征主要为缓慢进行性加重的对称性肌肉无力和萎缩,无感觉障碍。电生理表现主要为肌源性损害、神经传导速度正常。组织学特征主要为进行性的肌纤维坏死、再生和脂肪及结缔组织增生,     

伴神经源性损害的非炎性肌病临床与电生理特点

目的探究伴神经源性损害的非炎性肌病患者临床及电生理特点。方法回顾性收集自2015至2017年我院明确诊断为肌肉疾病且在我院肌电图室完成常规肌电图检查的所有患者,分析伴神经源性损害且诊断为非炎性肌病患者的临床及电生理特点。结果共收集经基因检测或肌肉活检明确诊断为肌肉疾病患者110例,肌电图出现神经源性损害者为10例,其中出现神经源性损害且为非炎性肌病者4例。上述4例患者分别为1例脂质沉积性肌病、1例中央轴空病、1例包涵体肌病及1例Welander型远端型肌病;肌电图均合并神经源性损害,同时伴或不伴周围神经损害。结论少数非炎性肌病患者肌电图可出现神经源性损害,肌电图不能作为诊断肌肉疾病的单独标准。     

Bethlem肌病一家系临床表型及基因突变分析

目的 分析Bethlem肌病临床表型和基因突变特点.方法 报道一家系3例女性患者临床表型、肌电图、肌肉活检、肌肉病理学和基因检测结果,并结合相关文献进行分析.结果 先证者于13岁发病,以进行性四肢近端无力为主要临床表现.血清学肌酸激酶水平显著升高,肌电图呈肌源性损害,肌肉病理学显示骨骼肌局灶坏死等非特异性肌源性损害.基...     

婴儿型脊肌萎缩症22例临床分析

目的 探讨婴儿型脊肌萎缩症的发病机制、临床与病理特征及诊断.方法 对22例确诊为婴儿型脊肌萎缩症患者的临床表现、实验室资料、病理资料进行了回顾性分析.结果 本病临床特点患儿大多为8个月内起病,四肢呈对称性、迟缓性瘫痪,下肢重于上肢,近端重于远端;有肌萎缩,血清CK、LDH正常或增高;肌电图显示神经源性损害,肌活检见肌纤维萎缩、变性、坏死,符合脊肌萎缩症的改变.结论 婴儿型脊髓性肌萎缩症有较典型的临床及电生理特征,肌电图检查是重要的诊断方法,肌活检可为脊肌萎缩症的诊断提供客观的诊断依据,目前对本病主要采取对症治疗.     

强直性肌营养不良的肌电图特点分析

目的分析强直性肌营养不良(DM)的肌电图特点。方法对2014至2017年11例诊断为DM1型患者(DM组)和随机选取11例多发性肌炎(PM)患者(对照组)的针极肌电图、神经传导进行比较分析,总结DM患者的肌电图特点。结果 DM组5例行基因检查确诊。(1)DM组复合肌肉动作电位(CMAPs)下降4条(占所有神经传导5%);(2)DM组肌强直电位出现例数(11例)较PM组(1例)多(χ2=18.333,P0.05);(3)DM组近、远端肌肉均受累(18块近端肌肉和19块远端肌肉出现肌源性损害),PM组(21块近端肌肉和2块远端肌肉出现肌源性损害)更易出现近端肌源性损害(χ2=11.344,P=0.001);(4)DM组(8块近端肌肉和20块远端肌肉)出现肌强直放电与PM组(1块近端肌肉和0块远端肌肉)比较,强直性放电的近远端肌肉受累比较,差异无显著性(P=0.310)。结论 DM 1型患者肌电图改变的主要特点为肌强直电位放电伴肌源性损害,且以远端、近端肌肉均受累显著;PM肌电图改变的主要特点为肌源性损害,以近端肌肉受累明显。肌电图特点可以鉴别DM和PM。     

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy

Introduction: The test–retest reliability of the Modified Hammersmith Functional Motor Scale (MHFMS) in children with spinal muscular atrophy (SMA) ≤30 months of age was assessed. The age at which typically developing children (TD) achieve maximum MHFMS scores was also studied. Methods: Twenty‐two children with SMA type II [mean age (SD) = 20 (5) months, range 9–30 months) were tested twice using the MHFMS. Twenty‐five TD children [mean age (SD) = 18 (7) months, range 9–30 months) were tested once. Results: The average difference between MHFMS scores for SMA children was 0.18 [first assessment: mean (SD) = 12.8 (9.8); second assessment: mean (SD) = 13.0 (8.8)]. Reliability was excellent (ICC_1,3 = 0.96, SEM 1.86). TD participants had MHFMS scores ranging from 36 to 40 [mean (SD) = 39.2 (1.2)] and achieved maximum test scores at 12 months of age. Discussion: MHFMS scores in young children with SMA type II showed excellent test–retest stability. This suggests that the MHFMS can be used reliably in this younger population for clinical trials and follow‐up. Muscle Nerve, 2011     

Fasciculation of the eyelids: an additional clue to clinical diagnosis in spinal muscular atrophy

Fasciculation of the eyelids was observed in five of eleven children with spinal muscular atrophy (SMA); two had severe SMA and three were of intermediate severity. Three other children with intermediate SMA and the two children with mild SMA did not show eyelid fasciculations. This could provide an additional clinical sign to tongue fasciculation and hand tremor in the diagnosis of SMA in childhood.     

Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings

Spinal muscular atrophy (SMA) is a chronic illness characterized by loss of motor function. The aim of the study was to investigate behavioural adjustment in 96 children and adolescents with SMA (47 males, 49 females; mean age 11 years 2 months, range 6 to 18 years). Forty-five non-affected siblings (26 males, 19 females; mean age 11 years 6 months, range 6 to 18 years) and 59 normally developing children (33 males, 26 females; mean age 10 years 8 months, range 6 to 18 years) were recruited as control participants. Behavioural symptoms were measured with the Child Behaviour Checklist (CBCL) and disorders were assessed with a structured psychiatric interview (Kinder-DIPS). Of the patients with SMA, 12.5% fulfilled the criteria for an ICD-10 or DSM-IV diagnosis, with separation anxiety disorder being the most common diagnosis. The CBCL total score was in the clinical range for 11.5% of patients, 20% of the siblings, and 11.7% of the control children; the externalizing score rates were 2.1%, 22.2%, and 11.9% respectively; the internalizing score 18.9%, 24.4%, and 13.6% respectively. Comorbid psychopathology was not influenced by sex, IQ, nor severity of SMA, and only externalizing behaviour was correlated to age. In conclusion, children and adolescents with SMA are characterized by a low psychiatric comorbidity not different from control individuals. The group with the highest rate of behavioural problems and with the greatest need for intervention were the non-affected siblings who had a two- to threefold higher rate of behavioural problems than the normative population.     

Outcome measures for pediatric spinal muscular atrophy

BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disease of the anterior horn cell with a frequency of 8 per 100 000 live births and a high rate of mortality during infancy. The American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group is an organization of 5 centers formed to perform clinical trials in children with SMA. OBJECTIVE: To devise reliable methods to measure strength, motor function, lung function, and quality of life for use as outcome measures in children with SMA. SETTING: Tertiary referral center, pediatric neurology department. PATIENTS AND METHODS: Twelve children with SMA aged 2 to 14 years were enrolled in a reliability study of 4 outcome measures: quantitative muscle testing (in children >5 years), gross motor function measure, pulmonary function tests, and quality of life. The Richmond Quantitative Measurement System was used to test grip, knee flexion and extension, and elbow flexion. Gross motor function measure was performed as described, and pulmonary function tests were measured using the KoKo system. Quality of life was assessed via the PedsQL and the PedsQL Neuromuscular Module for patients and parents. RESULTS: Ten children fulfilled the inclusion criteria and completed at least 3 visits with 3 evaluators in 6 months. Using a weighted kappa, the gross motor function measure showed high interrater reliability. Quantitative muscle testing showed greater variability among the weakest children; the findings for pulmonary function tests and quality of life were inconclusive. The PedsQL Neuromuscular Module for parents had moderately high reliability. CONCLUSION: A tool for motor function may be more useful in clinical trials of childhood SMA than one for quantitative muscle strength.     

Electrical impedance myography in spinal muscular atrophy: a longitudinal study

Introduction: New approaches for assessing disease progression in spinal muscular atrophy (SMA) are needed. In this study, we evaluate whether electrical impedance myography (EIM) can detect disease progression in SMA compared with a group of healthy children of similar age. Methods: Twenty‐eight children with SMA and 20 normal children underwent repeated EIM testing in four muscles at regular intervals for up to 3 years. An average rate of change of EIM was calculated for each subject and normalized to subcutaneous fat thickness and muscle girth. Results: Multiple EIM parameters showed a change in normal subjects over a mean of 16.7 months; however, no change was found in SMA patients over this period. Conclusions: EIM could detect non–mass‐dependent muscle maturation in healthy children. In contrast, the muscle in children with SMA, as measured by EIM, was virtually static, showing no evidence of growth or active deterioration. Muscle Nerve, 2012     

Bone mineral density in a paediatric spinal muscular atrophy population

BACKGROUND/OBJECTIVE: Reduced bone mineral density is a feature of patients with reduced mobility. The aim of this study was to assess bone mineral density in children with spinal muscular atrophy (SMA) and to evaluate bone mineral density in relation to age and motor disability. PATIENTS AND METHODS: We analysed bone mineral density measurements on twelve patients (4 with SMA type II, mean age 8.2 years [range 6.2 - 11.8]; 8 with SMA type III, mean age 11.8 years [range 5.5 - 20]). Dual-energy X-ray absorptiometry (DXA) was used to determine total body bone mineral density. The results were matched with published normative data for age and sex for a white Caucasian population. RESULTS: The total body bone mineral density values were in the normal range in 10 out of the 12 SMA patients studied, all below the age of 17 (mean age 8.8 years [range 5.5 - 16.33]). Four of them had SMA II and six had had SMA III and were still ambulant. Total body bone mineral density was, however, below 2 SD in the remaining 2 patients aged 19.7 and 20 years, respectively. Both had SMA III but had lost independent ambulation for a period of 3.5 years. CONCLUSION: Our results suggest that bone mineral density was surprisingly normal in most of the young SMA children studied. This is in contrast to what is reported in other conditions characterised by reduced mobility such as Duchenne muscular dystrophy. However, there was a tendency to decreasing bone mineral density with increasing age, not always related to the ability to walk, with the two eldest patients having the lowest values in spite of a relatively good mobility. These findings suggest that factors other than mobility are likely to have an effect on SMA bone mineral density.     

A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs

Nusinersen (NUS), the first treatment approved for Spinal Muscular Atrophy type 1 (SMA1), was made available in the UK for SMA1 through the Expanded Access Program (EAP) in 2017. The Great Ormond Street Respiratory (GSR) score was developed as an objective respiratory assessment for children with SMA1 during their treatment. Aims: Track respiratory status of SMA1 children over the course of Nusinersen treatment and compare GSR scores amongst SMA1 sub-types. Single centre study on SMA1 patients using the GSR score at set time points: prior to first NUS dose; 2 weeks post end of loading doses; 2 weeks post-subsequent doses. GSR score ranges 1–28, being 1–9 = Stable minimal support, thorough to 23–28 = Poor reserve with maximum support. 20 SMA1 children underwent NUS treatment between January 2017 - November 2018. Median age of diagnosis was 5.0 months. NUS started at median of 9.57 months. From 5th dose onwards, GSR scores were significantly lower for Type 1C patients compared to Type 1B By month 18, irrespective of subtypes, the whole cohort appears to stabilise GSR Scores. As treatment duration increases, an overall stabilisation of respiratory status across the cohort was observed. Further longitudinal studies are needed to validate the GSR.     

Transcranial magnetic stimulation at 1 Hertz improves clinical symptoms in children with Tourette syndrome for at least 6 months

Tourette syndrome (TS) is characterized by multiple motor and phonic tics. Repetitive transcranial magnetic stimulation (rTMS) targeting the supplemental motor area (SMA) can reduce tic severity. Here, we investigated whether 1 Hz rTMS targeted to the SMA could improve symptoms in children with TS. Twenty-five children with TS (aged under 16 years) received 20 daily sessions of rTMS to the SMA at a frequency of 1 Hz, 110% of resting motor threshold (RMT). Clinical assessment and physiological measures of the left and right RMT were conducted at different times during treatment and follow-up. After four weeks of treatment we observed statistically significant reductions on the Yale Global Tic Severity Scale, Clinical Global Impression Scale, Swanson, Nolan and Pelham Rating Scale, version IV for attention-deficit hyperactivity disorder, Children’s Depression Inventory, Spence Children’s Anxiety Scale and a novel Attention Test. In addition, symptom improvement correlated with an increase of both right and left RMT and was stable at six months follow-up. Therefore, we found that 1 Hz rTMS to the SMA can improve clinical symptoms in children with TS for at least six months.