Acupuncture for cervical dystonia associated with anxiety and depression: A case report

BACKGROUND Cervical dystonia(CD)is a type of muscle tone disorder that usually occurs in the neck muscles.Due to the intermittent or continuous involuntary contraction of the neck muscles,the head and neck are twisted and skewed and some postural abnormalities occur.Long-term abnormal posture or pain can cause negative emotions in patients,which can affect their quality of life.CASE SUMMARY This case report included a 37-year-old woman who was diagnosed with CD associated with anxiety and depression;the accompanying symptoms were head and neck tilt of approximately 90°to the right and mental abnormality.After two courses of acupuncture treatment,the patient’s head and neck can be maintained in a normal position,and the negative emotions can be relieved.CONCLUSION This case indicates that acupuncture can effectively improve CD and the emotional state and quality of life of patients,making it an effective alternative treatment for the condition.

THE PROPERTIES AND LONGITUDINAL EXPERIENCE OF CHINESE TYPE A BOTULINUM TOXIN FOR THE TREATMENT OF FOCAL DYSTONIA AND HEMIFACIAL SPASM

Objective.To introduce the properties of Chinese type A botulinum toxin(CBTXA,made by Lanzhou Institute of Biological Products),and its long?term effect for focal dystonia and hemifacial spasm.Method.The purity and recovery of crude and crystalline toxin were tested.Long?term data from305patients with hemifacial spasm(HFS),blepharospasm(BS)and cervical dystonia(CD)were evalu-ated and subgroups of patients received CBTXA injections between1994and2000in at least six sepa-rate treatment sessions,with follow up for2～8years.The therapeutic results of the last session CBTXA injections were analyzed in comparison with the first session.Result.CBTXA purity was high[(2.55～2.60)×10 7 LD50/mgPr ,A260/A280≤0.55,high molecular substance accounted for99.2%of total proteins].Long term treatment with CBTXA in patients with focal dystonia and HFS was not associated with any decline in benefit,and efficacy may improve slightly with repeat treatments.CBTXA is an excellent long-term treatment of HFS,BS and CD.Conclusion.We conclude that Chinese type A botulinum toxin is of botulinum toxin therapy quality standard according to results obtained from the basic study and long?term clinical applications.The re?injection of CBTXA significantly improves the quality of life of most patients and is a safe,effective and comparatively economical treatment for patients with focal dystonia and HFS.

Role of DYT1 gene in early-onset primary torsion dystonia

Mutation of the DYT1 gene has been reported to cause early-onset primary torsion dystonia （DYT1） Due to DYT1 gene mutation, defective wild torsinA and the accumulation of mutant torsinA （GAG-deleted DYT1 gene encoded the mutant torsinA, torsinA＆E） play an important role in DYT1 pathogenesis. Intracellular inclusion bodies are formed, and dopamine transport and release are disturbed by interfering functions of endoplasmic reticulum, nuclear membrane, and cytoskeleton of neural cells, resulting in DYT1 onset. Small interfering RNA could serve as a potential therapy for DYT1. However, the exact function of wild torsinA and the pathological effects of torsinAAE require further studies.

DYT1 MUTATIONS AMONGST EARLY ONSET PRIMARY DYSTONIA PATIENTS IN CHINA

Objective To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China. Methods Thirteen patients with early onset primary torsion dystonia were screened for mutation in exon 5 of the DYT1 gene using denaturing high-performance liquid chromatography （DHPLC） and DNA sequencing, and the results were confirmed with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients. The detecting results were consistent between with DHPLC and PCR-RFLP. We did not find any other mutations in the DYT1 gene. Conel^iotm The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in Chin＆ The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.

Dopaminergic system abnormalities Etiopathogenesis of dystonia

BACKGROUND： Much research has focused on the close relationship between etiopathogenesis of dystonia and abnormalities of the dopaminergic system. Nevertheless, details of the mechanism are still not clear. OBJECTIVE： To review studies from the past few years about pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system. RETRIEVAL STRATEGY： Using the key words ＂dystonia＂ and ＂dopamine＂, PubMed database and SCI databases were searched from January 1990 to December 2005 for relevant English publications. A total of 73 articles were searched and, initially, all articles were selected. Inclusive criteria： studies based on pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system. Exclusive criteria： duplicated studies. A total of 19 articles were extracted after preliminary screening. LITERATURE EVALUATION： The data sources were the PubMed and SCI databases. The types of articles chosen were reviews and original articles. DATA SYNTHESIS： Metabolism and function of dopamine in the central nervous system： the chemical constitution of dopamine is a single benzene ring. The encephalic regions of dopamine synthesis and their fiber projections comprise four nervous system pathways. One of these pathways is the substantia nigra-striatum dopamine pathway, which is a side-loop of the basal ganglia circuitry that participates in movement control and plays a main role in the adjustment of extracorticospinal tract movement. Dopamine can lead to the facilitation of movement. Dystonia and abnormalities of the dopaminergic system： different modes of dopamine abnormality exist in various forms of dystonia. Abnormalities of the dopaminergic system in several primary dystonias： at present, fifteen gene loci of primary dystonia have been reported （DYT1-DYT15）. The relationship between abnormalities of the dopaminergic system and the etiopathogenesis of several primary dystonias has been observed at the molecular level. CONCLUSION： Various abnormalities of the dopaminergic system exist for different forms of dystonia; therefore, much more research is needed in this area. At the molecular level, relationships between abnormalities of the dopaminergic system and etiopathogenesis of the following syndromes have been observed： dopa-responsive dystonia, early-onset torsion dystonia, X-linked dystonia-parkinsonism syndrome, myoclonus dystonia syndrome, primary cervical dystonia, and focal dystonia blepharospasm.

Genetic classification and molecular mechanisms of primary dystonia

BACKGROUND： Primary dystonia is a heterogeneous disease, with a complex genetic basis. In previous studies, primary dystonia was classified according to age of onset, involved regions, and other clinical characteristics. With the development of molecular genetics, new virulence genes and sites have been discovered. Therefore, there is a gradual understanding of the various forms of dystonia, based on new viewpoints. There are 15 subtypes of dystonia, based on the molecular level, i.e., DYT1 to DYT15. OBJECTIVE： To analyze the genetic development of dystonia in detail, and to further investigate molecular mechanisms of dystonia. RETRIEVAL STRATEGY： A computer-based online search was conducted in PubMed for English language publications containing the keywords ＂dystonia and genetic＂ from January 1980 to March 2007. There were 105 articles in total. Inclusion criteria： ① the contents of the articles should closely address genetic classification and molecular mechanisms of primary dystonia; ② the articles published in recent years or in high-impact journals took preference. Exclusion criteria： duplicated articles. LITERATURE EVALUATION： The selected articles were on genetic classification and molecular genetics mechanism of primary dystonia. Of those, 27 were basic or clinical studies. DATA SYNTHESlS： ① Dystonia is a heterogeneous disease, with a complex genetic basis. According to the classification of the Human Genome Organization, there are 15 dystonia subtypes, based on genetics, i.e., DYT1-DYT15, including primary dystonia, dystonia plus syndrome, degeneration plus dystonia, and paroxysmal dyskinesia plus dystonia.② To date, the chromosomes of 13 subtypes have been localized; however, DYT2 and DYT4 remain unclear. Six subtypes have been located within virulence genes. Specifically, torsinA gene expression results in the DYTI genotype; autosomal dominant GTP cyclohydrolase 1 gene expression and recessive tyrosine hydroxylase expression result in the DYT5 genotype, respectively; the epsilon-sarcoglycan gene is involved in DYT11; Na^＋/K^＋-ATP enzyme α 3 chain gene in DYT12; TATA-conjugated protein-associated factor 1 gene in DYT3; and myofibril regulatory factor gene in DYTS. ③ Different types of dystonia exhibit various clinical characteristics and specific clinical manifestations. ④Many elements regarding the molecular mechanism of dystonia have been determined. However, many components remain poorly understood. For example, detailed pathogenesis remains unclear. Various forms of dystonia exhibit similar problems. Moreover, a single form of dystonia may be a result of two or more different chromosomal mutations. In addition, more studies are needed to fully understand chromosome apposition and virulence genes involved in dystonia. CONCLUSION： The discovery of virulence genes and localizations of newly classified forms of dystonia are beneficial to further understanding the molecular mechanisms of dystonia.

Ultrasound and Electromyography as Guidance Tools for the Botulinum Toxin Therapy in Cervical Dystonia

Cervical Dystonia (CD) is the most common type of focal dystonia in the movement disorders units of any specialized hospital around the world. Botulinum Toxin (BT) infiltration is the treatment of choice for CD, according to most of the experts around the world, however the efficacy and tolerance of BT therapy in CD depend on the accuracy when BT is released into the muscles. We reviewed the medical literature in regard to the use of guiding tools for the BT infiltration in CD patients. Results: The use of guiding tools such as Ultrasound or EMG definitely improves the accuracy for releasing the BT into the muscles involved according to some authors. Conclusion: the use of Ultrasound and EMG improves the efficacy and reduce the adverse effects in the BT therapy in CD patients.

A Case of Posttraumatic Cervical Dystonia Treated with OnabotulinumtoxinA

Cervical dystonia (CD) is a condition that typically presents with cervical muscle spasm, producing head tilt and cervical rotation. CD is most often idiopathic, however, in a small number of patients, CD occurs within one day to one year after mild to severe trauma. This type of CD is further classified as posttraumatic CD. OnabotulinumtoxinA (Botox) injections are considered to be a controversial treatment for posttraumatic CD and have produced variable result. This report describes the case of a 32-year-old female presenting with a two year history of posttraumatic CD and associated head, neck, and shoulder pain after obtaining a severe head injury during a motorcycle accident. OnabotulinumtoxinA was used to successfully treat her posttraumatic CD muscle spasms and associated chronic pain. Three months after her first and second ONA treatments, the patient reported at least 50% improvement in her overall pain symptoms and a noticeable reduction in cervical paraspinal muscle spasms.

Psychogenic Dystonia in Tunisian Children

Psychogenic dystonia in children is rare and often difficult to distinguish from organic dystonia. It is usually related to a psychological or psychiatric underlying cause. From January 2004 to November 2009, 5 children with psychogenic dystonia among 200 with dystonia were followed up in our department. Elements of history, physical examination, videotaping and management were analyzed. Mean age was 14.9 years, mean age of onset was 13 years and mean follow up period was 6 months. The dystonia onset was abrupt in 3 patients and progression resulted rapidly into fixed dystonia in 4 patients. Pain was observed in all patients. Paroxysmal dystonia was observed in one patient. An underlying psychiatric disorder was found in all patients. All patients improved with psychotherapy and anxiolytic or antidepressant drugs. Only one patient showed relapse after each familial conflicts. The small size of our series reflects this disorder is rare (1 case/year). Pain was a prominent feature in all patients. Children have acute onset, short duration of disease and improved under psychological therapy and drugs. Psychogenic dystonia in children is usually misdiagnosed. It is necessary to analyze clinical features and outcome of this disorder to reach a clear diagnosis and adequate management, which requires multifaceted approach, including psychological, physical and pharmacological therapies.

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia:A case report

BACKGROUND Spinocerebellar ataxia type 3(SCA3)is a rare neurodegenerative disease with high genetic heterogeneity.SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles,dysphagia,lingual fibrillation,pyramidal tract sign,and extrapyramidal system sign.However,it rarely has clinical manifestations similar to Parkinson-like symptoms,and is even rarer in patients sensitive to dopamine.We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing,which was completely different from the initial diagnosis.CASE SUMMARY A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility.At the beginning of the disease,she presented with anxiety and sleep disorder.At the later stage,she presented with gait disorder,which was similar to Parkinson's disease.Her medical history was unremarkable,but her mother,grandmother,and uncle all had similar illnesses and died due to inability to take care of themselves and related complications.Laboratory and imaging examinations showed no abnormalities,but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm,respectively.Her symptoms fluctuated during the daytime,and we initially diagnosed her with dopamine-responsive dystonia.After treatment with lowdose levodopa,the patient’s symptoms were significantly improved,but the final genetic diagnosis was SCA3.CONCLUSION SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.

Could Dystonia Be Initial Presentation of Corpus Callosum Infarction in Young Age Patients? A Case Report Study

Focal dystonia in young aged patients is considered to be the uncommon clinical presentation, unless a secondary cause is to be considered. Infarcts of the corpus callosum are rare and have not been well documented previously. As for a variety of signs and symptoms due to corpus callosum lesion, focal dystonia can be easily overlooked. The case is approved by ethical committee and explained to the patient with patient approval.

Clinical Patterns of Primary Dystonias among Hospitalized Patients in Baghdad and Kut in Iraq

Aim of study: This study was carried out to describe characteristics of 22 primary dystonic patients and their response to therapy. Patients and method: Twenty-two patients were entered into the study from Baghdad teaching hospital, Al-Kadhymia teaching hospital in Baghdad, privet nursery home teaching hospital in Baghdad, and Alzehraa teaching hospital in Kut south to Baghdad from January 2005 to January 2008. All cases were primary dystonia, secondary dystonia has been excluded from our study. Neuroimiging and slit Lampe examination have been done for all cases, L-Dopa in dose of 10/mg/kg/day for 2 weeks was giving for all patients. Type of study is a retrospective cohort study. All patients were followed in the outpatient clinics of the hospitals mentioned previously with frequent neurological examinations. Results: Out of 22 patients, 15 (68%) patients were females, 7 (32%) were males. According to descriptive classifications of dystonia by age of onset, fourteen patients (64%) were of early onset and eight (36%) being late onset (26 years and older). Three patients had generalized dystonia, 19 patients had focal dystonia {11 (58%) cases were cervical (TORTICOLIS) type, 5 (26%) blepharospasm type and segmental (LIMBES) dystonia 3 (16%)}. All cases were given L-DOPA in dose 10/mg/kg for 2 weeks, only two cases shown clinical response for the drug inform of absence of abnormal movements and improve quality of life. Conclusion: Dystonia is rare;however, early onset dystonia are more common than late onset. Dystonia are more common in females than in males and focal dystonia is more common than generalized dystonia.

A case of mixed geno—Phenotype of generalized dystonia and strumpel disease

Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and hyperkinesis respectively. We present a case of a patient born from parents with these diseases who developed neurologic phenomena uncharacteristic for the classical clinical picture of his parents’ disorders. Case report: Patient V., 12, born from his father with generalized dystonia and mother with Strumpel disease, has flaccid lower paraplegia along with dystonic hyperkinesis in neck and arms. Discussion: The flaccid lower paraplegia could be caused by the anterior horn lesion. This phenomenon is unclear because anterior horn lesions were not diagnosed in the proband’s parents.

Cervical dystonia associated with cavernous angioma of the frontal lobe

Structural lesions of CNS, reported to be associated with torticollis, are mostly restricted to cerebellum, brain stem and basal ganglia. In fact, we know only about two documented frontal lobe mass lesions—meningiomas, associated with torticollis. Our observation of frontal lobe cavernous angioma associated with clinical picture of torticollis confirms the role this area could play in the pathophysiology of involuntary movements. We report a case of patient with torticollis associated with cavernous angioma of the right frontal lobe and presuppose causative role of angioma in the development of our patient’s torticollis.

以肌张力障碍为发病特点的脊髓小脑性共济失调2型一例

先证者(Ⅳ3)女性,35岁,因行走不稳、头部抖动7年,加重伴肢体抖动10余天,于2022年2月16日入院。先证者7年前(2015年5月)无明显诱因出现行走不稳,步基增宽,左右摇摆,并逐渐出现伴紧张时头部不自主抖动,安静休息时消失,外院头部MRI检查显示小脑萎缩,给予4次干细胞治疗(具体药物及方案不详),症状无明显改善。2年前(2020年2月)行走不稳加重,需要辅助器械方可行走,但生活可自理。间断、多次辗转当地诊所治疗,疗效甚微,曾服用氟哌啶醇、氯硝西泮、多巴丝肼等(具体剂量不详),但效果欠佳后未服用。

杨氏针灸流派絮刺火罐特色技术治疗中风后肌张力障碍的临床诊疗专家共识

中风是一种由各种血管原因导致的急性或局灶性脑功能障碍,其发病原因主要包括脑出血和脑缺血,具有较高的发病率、致残率和病死率[1],是全球死亡和长期残疾的主要原因,给医疗系统和家庭带来了巨大的经济负担[2-3]。尽管中风的发病率在全球范围内有所下降,但最近的全国性流行病学调查表明,中国估计有1100万中风流行病例,240万新的中风病例和110万与中风相关的死亡[4-5]。中风后肌张力障碍成为中风后遗症加重的重要因素。

舒肌汤抗帕金森病大鼠肌张力障碍的最佳配伍比例研究

[目的]探究舒肌汤治疗帕金森病(Parkinson’s disease,PD)大鼠肌张力障碍的最佳配伍比例。[方法]采用6-羟基多巴胺诱导制备大鼠PD肌张力障碍模型,以正交试验法设计实验,随机分为模型组(等体积0.9%氯化钠溶液)、舒肌汤1-16组[按L;16;(2;15;)正交试验表配伍比例给药],同时设假手术组(等体积0.9%氯化钠溶液)作为对照,给药1次/d,连续28 d。采用步进试验、悬挂试验和异常不自主运动量(abnormal involuntary movement,AIM)评分检测行为学表现;透射电镜观察膈肌神经接头超微结构变化;免疫组织化学检测脑组织酪氨酸羟化酶(tyrosine hydroxylase,TH)表达水平。[结果]正交试验结果显示,舒肌汤最佳配伍组方为舒肌汤4组即厚朴:青风藤:粉防己:毛叶轮环藤:山梗菜(1:1:2:2:1)。与假手术组比较,模型组大鼠调整步数显著下降,潜伏期和AIM评分显著升高(P<0.01);与模型组比较,舒肌汤组大鼠调整步数均显著升高、潜伏期和AIM评分均显著降低(P<0.01),其中舒肌汤4组作用效果最明显(P<0.01)。透射电镜观察显示,舒肌汤可减少突触前膜囊泡、线粒体数目和突触后膜褶皱,减轻神经元结构损伤。免疫组化显示,与模型组比较,舒肌汤组大鼠TH蛋白表达水平均显著升高(P<0.05),其中舒肌汤4组的TH蛋白表达水平最高(P<0.01)。[结论]舒肌汤治疗PD大鼠肌张力障碍的最佳配伍比例是厚朴:青风藤:粉防己:毛叶轮环藤:山梗菜=1:1:2:2:1。

苍白球内侧部脑深部电刺激治疗颅颈肌张力障碍的长期与短期随访疗效比较

目的探讨苍白球内侧部(GPi)脑深部电刺激(DBS)治疗颅颈肌张力障碍(CCD)患者的长期与短期疗效的差异情况。方法本研究回顾性分析2016年1月—2023年12月在首都医科大学宣武医院行GPi DBS的24例难治性颅颈肌张力障碍患者,使用Burke-Fahn-Marsden肌张力障碍评定量表(BFMDRS)评估肌张力障碍的严重程度和残疾情况。BFMDRS评分在术前、术后6个月和最近一次随访三个时间点分别进行评估。结果16例患者的初始症状为眼睑痉挛,7例患者表现为痉挛性斜颈,只有1例患者表现为口下颌肌张力障碍。平均随访时间为(37.5±23.5)个月(6~84个月)。3个时间点的BFMDRS-M总分平均分别为13.3±9.4、5.0±4.7(改善率为55.3%,P<0.01)、4.5±3.6(改善率为56.6%,P<0.01)。5例(20.8%)患者的手术效果评级为差(BFMDRS评分改善率<30%)。结论GPi DBS治疗难治性CCD具有长期疗效,但临床结果并不稳定,整体改善较为有效。对于患有特定类型肌张力障碍的患者可能会考虑GPi以外的靶点以获得更好的疗效。

针刺治疗在脑卒中后肌张力障碍的应用进展

肌张力障碍是脑卒中主要后遗症之一,严重影响脑卒中患者的生活质量。目前针刺治疗在肌张力障碍患者中得到广泛应用,特色针法在肌张力障碍的治疗中能够发挥显著的疗效。阅读近年来针刺治疗脑卒中后肌张力障碍的相关文献,总结整理对症治疗的特色针法,包括阴阳平衡透刺法、醒脑开窍法、董氏针法、八字针法、靳三针疗法、张力平衡针法、针刺拮抗肌法、夹脊穴法等。本文通过对特色针刺法的思想与临床应用的分析,以及文献整理,以期为临床应用提供参考。

火龙罐治疗脑型Wilson病肌张力障碍的疗效观察

目的观察火龙罐对脑型Wilson病肌张力障碍患者的临床疗效及其安全性。方法随机收治60例脑型Wilson病肌张力障碍患者,分为对照组与火龙罐组,各30例。对照组予以常规(减少铜摄入、增加铜排出)治疗,火龙罐组在常规治疗上联合火龙罐治疗。总疗程均为3周。观测治疗前后2组的临床疗效、改良Ashworth量表、Burke-Fahn-Mars肌张力障碍评分量表(BFMDRS)、统一Wilson病评定量表(UWDRS)(神经功能)、日常生活能力量表(ADL)、中医证候积分量表。结果火龙罐组临床疗效为93.33%,对照组临床疗效为73.33%,火龙罐组总有效率优于对照组(P<0.05);治疗后2组改良Ashworth量表、BFMDRS、UWDRS、ADL、中医证候积分量表评分均优于治疗前(P<0.05或P<0.01);治疗后2组间比较,火龙罐组上述量表评分均优于对照组(P<0.01)。结论火龙罐能有效改善脑型Wilson肌张力障碍患者临床症状,且具有良好安全性。