A genetic study of idiopathic focal dystonias

The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis (n = 21), blepharospasm (n = 18) and writer's cramp (n = 4). They generated a potential population of 235 first-degree relatives, and 168 out of 179 living first-degree relatives were examined. Ten relatives with dystonia were identified in ten families. Another two parents from two of the same group of ten families were affected according to the family history. The majority of the secondary cases (six patients, five siblings, and one child) were not aware of any dystonia. The tendency for affected relatives to have the same type of dystonia as index patients was observed only for torticollis. Overall, 23% of index patients had relatives with dystonia. Segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dystonia.     

Treatment of Infantile Muscular Torticollis with Tuina： A Report of 22 Cases

以推、揉、拿、扳、拉等手法,治疗22例肌性斜颈患儿,治愈18例,显效3例,无效1例.总有效率95.4%.     

Osteocondroma de la columna cervical provocando tortícolis y hemiparesia

Osteochondromas are slow-growing benign bone tumors that are located frequently in the long bones. Approximately 1-4% of them occur in the spine. Solitary spinal osteochondromas may produce a wide variety of symptoms depending on their location and relationship to associated structures.We report a case of a 74-year old woman who was admitted to our hospital with complaints of progressive left hemibody weakness and cervicalgia. Neurological examination disclosed mild left-sided hemiparesis and left torticollis. Computed tomography and magnetic resonance imaging of the cervical spine revealed an expansive lesion affecting the left C3-C4 facet joint. The patient underwent a posterior C3 and C4 hemilaminectomy, complete excision of the lesion and instrumented posterior cervical fixation. Histological examination confirmed the diagnosis of osteochondroma. After surgery her symptoms improved progressively with no neurological sequels.     

两次改良Foerster-Dandy手术治疗痉挛性斜颈的对比研究

目的 对比两次改良Foerster-Dandy手术治疗痉挛性斜颈的疗效及并发症.方法 回顾分析183例痉挛性斜颈患者,其中A组126例采用改良Foerster-Dandy手术,B组57例采用在硬性神经内镜辅助下二次改良的Foerster-Dandy手术.结果 全部患者平均随访33.4个月.两组患者术后均立即感觉痉挛状态明显缓解,差异无统计学意义(P>0.05).A组36例发生不同程度吞咽困难,随访期间恢复正常18例,明显好转11例,无明显变化而影响生活质量7例;B组8例发生不同程度吞咽困难,随访期间恢复正常5例,明显好转2例,无明显变化而影响生活质量1例(该例仅随访1个月),差异有统计学意义(P<0.05).A组颅内感染10例(7.9%),B组颅内感染2例(3.5%),出院前均治愈,差异有统计学意义(P<0.05).B组手术时间较A组手术时间显著减少,差异有统计学意义(P<0.05).B组术中平均失血量较A组明显减少,差异有统计学意义(P<0.05).结论 硬性神经内镜辅助下二次改良的Foerster-Dandy手术,术中不咬除枕骨鳞部及枕大孔,在不降低疗效及不增加神经系统并发症的前提下,可进一步减少手术创伤,缩短手术时间,减少术中失血量,增加寰枕部稳定性,明显降低并发症的发生率.

Abstract：

Objective To study the microsurgical effectiveness of modified Foerster-Dandy's operation for the treatment of spasmodic torticollis under endoscope-assisted.Method 183 cases of spasmodic torticollis patients were treated by microsurgical modified Foerster-Dandy's operation from July 2001 to June 2009, which was randomly classified into group A and group B.Group A(126 cases) were treated by firstly modified Foerster-Dandy's operation.Group B(57 cases) were treated by microsurgical modified Foerster-Dandy's operation under endoscope-assisting.The other surgical steps were same with firstly modified Foerster-Dandy's operation.Results All the patients were averagely followed up for 33.4 months after the surgery.The spasticity was relieved immediately after the operation in all the patients.In group A, dysphagia in different degree in 36 cases, in whom, dysphagia was disappeared in 18 cases,dysphagia was significantly relieved in 11 , and unchanged in 7 during the following-up period.In group B,dysphagia was in different degree in 8 cases, in whom, dysphagia was disappeared in 5 cases, dysphagia was significantly relieved in 2, and unchanged in 1 ( follow-up only one month) ( P < 0.05 ).The intracranial infection rates in A and B groups were 7.9% and 3.5% respectively( P <0.05).The mean operative time was also significantly shorter in Group B than in Group A( P <0.05).The mean intraoperative blood loss in Group B was less than in Group A( P <0.05).Conclusions Modified Foerster-Dandy's operation can be done under endoscope-assisted, without resection of occipital squama and foramen magnum.This modified operation is able to keep the efficacy and do not increase the nervous system complications.It further reduces the surgical injury and intraoperative blood loss, increases the stability of the atlanto-occipital, and significantly descreases the incidence of intracranial complications.     

超声半定量评分在小儿肌性斜颈诊治中的应用

评价超声对先天肌性斜颈半定量分级评分诊断的价值。对SCM依据声像图特征进行分型及半定量分级评分。（1）Ⅰ型弥漫型4例;Ⅱ型结节型7例;Ⅲ型瘤样团块型27例。（2）三型在SCM粗细及血流方面存在显著差异。（3）随访观察,血流信号评分显著下降。超声对先天肌性斜颈分型诊断并半定量分级评分诊断,有利于临床有针对性设计治疗方案及客观评价疗效。     

痉挛性斜颈和特发性头部震颤的临床研究

目的对比痉挛性斜颈(CD)患者中存在头部震颤组[HT(+)组],无头部震颤组[HT(-)组]和特发性头部震颤组(ET组)三组患者的临床特点。方法用回顾性的方法观察自1982年8月至2012年10月期间就诊于天津医科大学总医院神经内科门诊的188例CD患者,其中HT(+)组57例,HT(-)组59例和72例ET病例的临床表现,病程发展过程和家族史。分组和诊断标准依据肌张力障碍性震颤和特发性震颤的诊断标准。使用χ2和方差分析进行统计学分析。结果三组患者中,其中HT(+)组女性患者发病率高于HT(-)组(χ2=5.872,P=0.019),HT(+)组颈痛率24.6%高于仅由震颤引起的颈痛率11.3%(χ2=4.060,P=0.041),HT(+)组56.1%患者以HT作为首发症状,HT发生后4.89年出现斜颈。26.7%CD患者同时存在手部震颤,HT(+)组显著性高于HT(-)组(χ2=16.800,P=0.000),ET组69%的患者存在手颤,显著性高于HT(+)组(χ2=7.651,P=0.005)。HT(-),HT(+)和ET三组患者中,HT(-)组具有家族史阳性率最低(10.2%),与HT(+)组相比有显著性差异(χ2=9.201,P=0.002),而ET组具有震颤的家族史阳性率最高(37.5%)。结论 HT和斜颈是头颈部肌张力障碍的两个重要体征,两者可先后出现,并相互转化,而HT有时是其早期唯一的表现,不易与ET区别,在与手颤和具有震颤或其他运动障碍的家族史的患者中更易发生,支持CD与特发性震颤在发病机制上具有一定的关联。     

The aetiology behind torticollis and variable spine defects in patients with M��llerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.     

先天性肌性斜颈儿童颌面部结构形态对称性分析

目的分析先天性肌性斜颈患者颌面部对称性，探讨颈部肌肉功能异常对儿童颌面部生长发育的影响。方法选择替牙期先天性肌性斜颈患者20例（男14，女6），拍摄头颅后前位定位X线片，测量分析双侧颌面结构形态、位置的对称性。结果面中部、面下部中线均偏向患侧（P〈0．01），患侧面部高度、上颌骨垂直高度、下颌骨体长度均较对侧小（P〈0．01），乳突发育优于对侧；患侧髁突、颧弓较对侧偏外（P〈0．01），颧弓相对于颞部塌陷（P〈0．01）；同时发生下颌骨向患侧的旋转移位，加重了下颌骨的不对称畸形。结论先天性肌性斜颈可以导致儿童早期发生颌面部发育不对称，颈部结构与功能对儿童颌面部的生长发育有重要的影响。     

A randomized,double-masked,crossover comparison of the efficacy and safety of botulinum toxin type A produced from the original bulk toxin source and current bulk toxin source for the treatment of cervical dystonia

In 1997, the US FDA approved a new bulk toxin source (now referred to as current) for the manufacture of botulinum toxin type A (BTX-A). The current BTX-A preparation has a lower neurotoxin complex protein load than the original BTX-A preparation, which may reduce antigenic potential. The present double-masked, multicenter study compared the efficacy and safety of BTX-A (BOTOX) produced from both original and current bulk toxin sources for the treatment of cervical dystonia. Patients (N = 133) were injected with BTX-A produced from original and current bulk toxin sources using a crossover design. Adverse events were assessed at each visit. Efficacy was assessed at 2 and 6 weeks post-injection using the severity and pain-disability subscales of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Mean BTX-A doses were comparable (original: 155 U, current: 156 U). Both BTX-A preparations produced similar, statistically significant reductions in TWSTRS severity and pain-disability scores at weeks 2 and 6 post-injection. The original and current BTX-A preparations showed no significant differences in adverse events, including both treatment-related (34%, 31%) and treatment-unrelated (27%, 32%), respectively. BTX-A produced from the original and current bulk toxin sources showed comparable efficacy and safety in the treatment of cervical dystonia; both significantly reduced dystonia severity and pain.