Pediatric torticollis: clinical report and predictors of urgency of 1409 cases.

BACKGROUND: To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign and transient conditions from (potentially) life-threatening disorders. This study describes the clinical characteristics of a large sample of children with torticollis. The aim of our study was to detect epidemiology, etiology and predictive variables associated with a higher risk of life-threatening conditions in acute torticollis. METHODS: We conducted a pediatric retrospective study of acute torticollis over a 13-year period referred to the ED of a tertiary pediatric Hospital. We reported the characteristics in the overall sample and in two subgroups divided according to urgency of the underlying condition. Furthermore, we developed a multivariate model aimed at identifying the main clinical predictors of the need for urgent care. RESULTS: 1409 patients were analyzed (median age 5.7 years, IQR 5.8). A history of trauma was present in 393 patients (27.9%). The symptom most frequently associated with torticollis were pain (83.5%). At least one pathological finding was found in 5.4 to 7.9% of patients undergoing further imaging. Hospitalization was required in 11.1% of cases (median duration 4 days). The most frequent etiologies of torticollis were postural cause (43.1%), traumatic (29.5%), and infective/inflammatory (19.1%). A longer time from onset of torticollis and the presence of headache or vomiting were strongly correlated with an underlying urgent condition, after adjusting for the other clinically and statistically significant variables in the bivariate analysis. CONCLUSION: Our study shows that an urgent condition most commonly occur in patients presenting with history of trauma or headache, vomiting and torticollis for more than 24 h should undergo further diagnostic evaluation and short-term follow-up, restricting invasive or expensive investigations to patients with clinical suspicion of an underlying harmful condition.

A systematic review of Sandifer syndrome in children with severe gastroesophageal reflux.

PURPOSE: Sandifer syndrome (SS), which combines gastroesophageal reflux (GER) and a neurological or psychiatric disorder, is an uncommon condition that often takes a long time to diagnosis. We aimed to systematically review available papers regarding SS. METHODS: After presenting our two cases of SS, we systematically reviewed articles published in MEDILINE/PubMed, Cochrane Library, and Web of Science. RESULTS: The meta-analysis included 54 reported cases and 2 of our own cases. Our results showed that all cases achieved symptom improvement with appropriate treatment for GER. Notably, 19 of the 56 cases exhibited anatomical anomalies, such as hiatal hernia and malrotation. Significantly more patients with than without anatomical anomalies required surgery (p < 0.001). However, 23 of the 29 patients without anatomical anomalies (79%) achieved symptom improvement without surgery. Patients who did not undergo surgery had a median (interquartile range) duration to symptom resolution of 1 (1-1) month. CONCLUSION: The primary care providers should keep SS in the differential diagnosis of patients presenting with abnormal posturing and no apparent neuromuscular disorders. Fundoplication may be effective especially for patients with anatomical anomalies or those whose symptoms do not improve after more than 1 month with nonsurgical treatment.

The natural course of idiopathic cervical dystonia.

Idiopathic cervical dystonia (ICD) is by far the largest subgroup of dystonia. Still, its natural course is largely unknown. We studied the natural course of 100 ICD patients from our botulinum toxin clinics (age at ICD onset 45.8 ± 13.5 years, female/male ratio 2.0) over a period of 17.5 ± 11.5 years with follow-ups during botulinum toxin therapy and with semi-structured interviews. Two courses of ICD could be distinguished by symptom development of more or less than 6 months. ICD-type 2 was less frequent (19% vs 81%, p < 0.001), had a more rapid onset (8.7 ± 8.0 weeks vs 3.8 ± 3.5 years), a higher remission rate (92% vs 5%, p < 0.001) and a higher prevalence of excessive psychological stress preceding ICD (63% vs 1%, p < 0.001). In both ICD-types, the plateau phase was non-progressive. Significant differences in patient age at ICD onset, latency and extent of remission, female/male ratio and prevalence of family history of dystonia could not be detected. ICD is a non-progressive disorder. ICD-type 1 represents the standard course. ICD-type 2 features rapid onset, preceding excessive psychological stress and a high remission rate. These findings will improve prognosis, treatment strategies and understanding of underlying disease mechanisms. They contradict the widespread fear of patients of a constant and continued decline of their condition. Excessive psychological stress may be an epigenetic factor triggering the manifestation of genetically predetermined dystonia.

[Pain and cervical dystonia]. / Schmerzen bei zervikaler Dystonie.

BACKGROUND: Dystonia is a hyperkinetic movement disorder that results in twisting, cramps and tremors due to sustained or intermittent muscle contractions. Cervical dystonia is the most common form of dystonia, in which the head, neck and/or shoulder areas are affected. In addition to these motor symptoms, pain and psychiatric symptoms are frequent in (cervical) dystonia. OBJECTIVE: Description of the incidence and evaluation of pain in cervical dystonia, summary and discussion of treatment options and effects. MATERIAL AND METHODS: In this review article the results in the scientific literature on pain in dystonia are summarized and discussed. RESULTS: Compared to other forms of dystonia, pain occurs most frequently in patients with cervical dystonia. A large proportion of patients with cervical dystonia suffer from pain, which contributes most to impairment of the patient. The motor symptoms of dystonia are usually treated with botulinum toxin injections. These have a muscle relaxing effect and also relieve pain. The study situation on the occurrence and treatment of pain in other forms of dystonia is so far very limited. Pain can dominate the clinical picture in patients with cervical dystonia. Evaluation of pain in cervical dystonia can be performed using standardized questionnaires. CONCLUSION: It is important to ask patients with cervical dystonia about pain and to consider it in treatment planning and evaluation. Vice versa, if pain is present the possibility of a causative dystonia should also be considered. For pain assessment there are some newly developed questionnaires to assess pain in a standardized way in patients with dystonia. Further research is needed to better understand the pathomechanisms of pain in dystonia.

Benign paroxysmal torticollis.

Benign paroxysmal torticollis is a rare, usually benign, condition classified as an episodic syndrome. It is characterized by episodes of paroxysmal head tilt and associated symptoms, some of which are shared with migraine. It is likely to be the migraine equivalent with the earliest age of onset, starting in some cases in the neonatal period but resolving typically by the age of three or four. It may evolve into other episodic syndromes, migraine, or hemiplegic migraine, and an antecedent history or family history should be sought from migraineurs. Its prevalence and under-recognition has made it difficult to study. There are emerging associations with genes implicated in other paroxysmal syndromes, including hemiplegic migraine and episodic ataxia. Treatment currently centers on supportive care and environmental modification.

STRANGULATION-INDUCED ATLANTOAXIAL ROTATORY SUBLUXATION TREATED WITH CLOSED REDUCTION.

BACKGROUND: Cervical subluxation is a broad class of injuries in which there are degrees of misalignment of vertebral bodies in relationship to adjacent vertebra. Atlantoaxial rotatory subluxation (AARS) is a subtype of cervical subluxation resulting from exaggerated rotation of the C1-C2 complex. Inflammatory, infectious, post-surgical, and traumatic etiologies are recognized and well-described. AARS is predominantly seen in children and occurs rarely in adults. CASE REPORT: We submit the case of an otherwise healthy adult male patient presenting to the emergency department with strangulation-induced C1-C2 subluxation with a rotational component that was treated at the bedside by neurosurgery with closed reduction. Why Should an Emergency Physician Be Aware of This? Clinicians must consider a broad range of serious pathologies in a patient presenting with torticollis, especially in the setting of strangulation. Although extremely rare in adults, AARS must be considered in the differential diagnosis, as early identification increases the likelihood of successful nonoperative treatment.

What can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia?

Several demographic and environmental factors may play an important role in determining the risk of developing adult-onset isolated dystonia (AOID) and/or modifying its course. However, epidemiologic studies have provided to date only partial insight on the disease mechanisms that are actively influenced by these factors. The age-related increase in female predominance in both patients diagnosed with AOID and subjects carrying its putative mediational phenotype suggests sexual dimorphism that has been demonstrated for mechanisms related to blepharospasm and cervical dystonia. The opposite relationship that spread and spontaneous remission of AOID have with age suggests age-related decline of compensatory mechanisms that protect from the progression of AOID. Epidemiological studies focusing on environmental risk factors yielded associations only with specific forms of AOID, even for those factors that are not likely to predispose exclusively to specific focal forms (for example, only writing dystonia was found associated with head trauma, and only blepharospasm with coffee intake). Other factors show biological plausibility of their mechanistic role for specific forms, e.g., dry eye syndrome or sunlight exposure for blepharospasm, scoliosis for cervical dystonia, repetitive writing for writing dystonia. Overall, the relationship between environment and AOID remains complex and incompletely defined. Both hypothesis-driven preclinical studies and well-designed cross-sectional or prospective clinical studies are still necessary to decipher this intricate relationship.

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.

Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region.

Lessons about Botulinum Toxin A Therapy from Cervical Dystonia Patients Drawing the Course of Disease: A Pilot Study.

AIM OF THE STUDY: To compare the course of severity of cervical dystonia (CD) before and after long-term botulinum toxin (BoNT) therapy to detect indicators for a good or poor clinical outcome. PATIENTS AND METHODS: A total of 74 outpatients with idiopathic CD who were continuously treated with BoNT and who had received at least three injections were consecutively recruited. Patients had to draw the course of severity of CD from the onset of symptoms until the onset of BoNT therapy (CoDB graph), and from the onset of BoNT therapy until the day of recruitment (CoDA graph) when they received their last BoNT injection. Mean duration of treatment was 9.6 years. Three main types of CoDB and four main types of CoDA graphs could be distinguished. The demographic and treatment-related data of the patients were extracted from the patients' charts. RESULTS: The best outcome was observed in those patients who had experienced a clear, rapid response in the beginning. These patients had been treated with the lowest doses and with a low number of BoNT preparation switches. The worst outcome was observed in those 17 patients who had drawn a good initial improvement, followed by a secondary worsening. These secondary nonresponders had been treated with the highest initial and actual doses and with frequent BoNT preparation switches. A total of 12 patients were primary nonresponders and did not experience any improvement at all. No relation between the CoDB and CoDA graphs could be detected. Primary and secondary nonresponses were observed for all three CoDB types. The use of initial high doses as a relevant risk factor for the later development of a secondary nonresponse was confirmed. CONCLUSIONS: Patients' drawings of their course of disease severity helps to easily detect "difficult to treat" primary and secondary nonresponders to BoNT on the one hand, but also to detect "golden responders" on the other hand.

The application of electrophysiology in the correction of spastic torticollis by triple surgery-report of 96 cases.

OBJECTIVE: To investigate the effect and value of electrophysiology in the 'triple operation' (selective excision of spastic muscles in the neck, selective resection of the posterior branch of the cervical nerve and accessory neurotomy) of spastic torticollis. METHODS: Preoperative electromyography (EMG) examination was performed on 96 patients with spastic torticollis treated in our hospital from January 2015 to December 2019. The results were used to assess the responsible muscles' primary or secondary position and the function of antagonistic muscles and to formulate a personalised surgical plan. A Cascade PRO 16-channel electrophysiological diagnostic system (produced by Cadwell, USA) was used to record the evoked EMG. Target muscles were denervated under intraoperative electrophysiological monitoring and re-examined by EMG six months later to evaluate the efficacy. RESULTS: The satisfactory rate of target muscle denervation was 95%, and the overall good rate was 79.1%. CONCLUSION: Electrophysiological examination and intraoperative application may have a positive value in the selection of the operative method, improving the rate of denervation and evaluating the prognosis of the 'triple operation'.

Using Flexible and Stretchable Surface Electromyography Electrode Array to Evaluate Congenital Muscular Torticollis in Children.

Congenital Muscular Torticollis (CMT) is a neuromuscular disease in children, which leads to exacerbation of postural deformity and neck muscle dysfunction with age. Towards facilitating functional assessment of neuromuscular disease in children, topographic electromyography (EMG) maps enabled by flexible and stretchable surface EMG (sEMG) electrode arrays are used to evaluate the neck myoelectric activities in this study. Customed flexible and stretchable sEMG electrode arrays with 84 electrodes were utilized to record sEMG in all subjects during neck motion tasks. Clinical parameter assessments including the cervical range of motion (ROM), sonograms of the sternocleidomastoid (SCM), and corresponding histological analysis were also performed to evaluate the CMT. The muscle activation patterns of neck myoelectric activities between the CMT patients and the healthy subjects were asymmetric during different neck motion tasks. The CMT patients presented significantly lower values in spatial features of two-dimensional (2D) correlation coefficient, left/right energy ratio, and left/right energy difference (p < 0.001). The 2D correlation coefficient of activation patterns of neck rotation and extension in CMT patients significantly correlated with clinical parameter assessments (p < 0.05). The findings suggest that the spatial features of muscle activation patterns based on the sEMG electrode arrays can be utilized to evaluate the CMT. The flexible and stretchable sEMG electrode array is promising to facilitate the functional evaluation and treatment strategies for children with neuromuscular disease.

[Surgical treatment of congenital muscular torticollis]. / Operative Behandlung des Torticollis muscularis congenitus.

OBJECTIVE: Surgical treatment of congenital muscular torticollis with tripolar release of the sternocleidomastoid muscle, followed by modified postoperative treatment with a special orthosis. INDICATIONS: Muscular torticollis due to contracture of the sternocleidomastoid muscle; failure of conservative therapy. CONTRAINDICATIONS: Torticollis due to bony anomaly or other muscular contractures. SURGICAL TECHNIQUE: Tenotomy of the sternocleidomastoid muscle occipitally and resection of at least 1 cm of the tendon at the sternal and clavicular origin. POSTOPERATIVE MANAGEMENT: Orthosis must be worn for 6 weeks 24 h/day, then for another 6 weeks 12 h/day. RESULTS: A total of 13 patients were treated with tripolar release of the sternocleidomastoid muscle and modified postoperative management. Average follow-up time was 25.7 months. One patient presented with recurrence after 3 years. No intra- or postoperative complications were observed.

Botulinum toxin type A outcomes in infants with refractory congenital muscular torticollis.

PURPOSE: The aim of this study was to determine the effectiveness of botulinum toxin type A (BoNT-A) injections in infants with congenital muscular torticollis (CMT) who were refractory to conservative management. METHODS: This was a retrospective study in which all subjects included were seen between 2004 and 2013 and were deemed appropriate for BoNT-A injections. A total of 291 patients were reviewed for inclusion in the study, and 134 patients met the inclusion criteria. Each child was injected with 15-30 units of BoNT-A into each of the following muscles: ipsilateral sternocleidomastoid, upper trapezius, and scalene muscles. The key outcome and variable measurements analyzed included age at time of diagnosis, age at time of initiation of physical therapy, age at time of injection, total number of injection series utilized, muscles injected, and degrees of active and passive cervical rotation and lateral flexion pre- and post-injection. A successful outcome was documented if a child could achieve 45° of active lateral flexion and 80° of active cervical rotation post-injection. Secondary variables including sex, age at time of injection, number of injection series utilized, surgery required, adverse effects of botulinum toxin, presence of plagiocephaly, side of torticollis, orthosis used, presence of hip dysplasia, skeletal anomalies, complications during pregnancy or birth, and any other pertinent information regarding the delivery were also measured. RESULTS: Based on this criteria, 82 children (61%) had successful outcomes. However, only four of the 134 patients required surgical correction. CONCLUSION: BoNT-A may be an effective and safe method for treatment in refractory cases of congenital muscular torticollis.

Isolated Cervical Dystonia: Diagnosis and Classification.

This document presents a consensus on the diagnosis and classification of isolated cervical dystonia (iCD) with a review of proposed terminology. The International Parkinson and Movement Disorder Society Dystonia Study Group convened a panel of experts to review the main clinical and diagnostic issues related to iCD and to arrive at a consensus on diagnostic criteria and classification. These criteria are intended for use in clinical research, but also may be used to guide clinical practice. The benchmark is expert clinical observation and evaluation. The criteria aim to systematize the use of terminology as well as the diagnostic process, to make it reproducible across centers and applicable by expert and non-expert clinicians. Although motor abnormalities remain central, increasing recognition has been given to nonmotor manifestations, which are incorporated into the current criteria. Three iCD presentations are described in some detail: idiopathic (focal or segmental) iCD, genetic iCD, and acquired iCD. The relationship between iCD and isolated head tremor is also reviewed. Recognition of idiopathic iCD has two levels of certainty, definite or probable, supported by specific diagnostic criteria. Although a probable diagnosis is appropriate for clinical practice, a higher diagnostic level may be required for specific research studies. The consensus retains elements proven valuable in previous criteria and omits aspects that are no longer justified, thereby encapsulating diagnosis according to current knowledge. As understanding of iCD expands, these criteria will need continuous revision to accommodate new advances. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Evaluation of miR-526b-3p, miR-1179, miR-3529-3p, miR-5011-5p as potential diagnostic biomarkers in isolated cervical dystonia.

BACKGROUND: Cervical dystonia (CD) also named spasmodic torticollis is the most common type of focal dystonias and characterized by abnormal head, neck, and shoulder movements due to involuntary muscular spasm. Although CD is mostly idiopathic, to date, several genes have been associated with CD. However, to the best of our knowledge, microRNAs (miRNAs) which are interacted with CD-associated genes have been not evaluated yet. miRNAs are regulatory small non-coding RNAs and are suggested as potential biomarkers for many diseases through their stability in clinical samples. Therefore, we aimed to assess the expression levels of miRNAs (miR-526b-3p, miR-1179, miR-3529-3p, miR-5011-5p) which are targeted the CD-associated genes, and evaluate their performance as diagnostic biomarkers. METHODS: Peripheral blood samples were obtained from 30 patients with isolated CD (ICD) and 25 healthy controls. The expression levels of miR-526b-3p, miR-1179, miR-3529-3p, and miR-5011-5p were analyzed via quantitative real-time PCR (qRT-PCR), and receiver operating characteristic (ROC) curves were generated to evaluate the diagnostic values. RESULTS: miR-526b-3p, miR-1179, and miR-3529-3p were significantly up-regulated while miR-5011-5p was significantly down-regulated in ICD patients compared to healthy controls. ROC analysis revealed that all miRNAs, especially miR-1179 and miR-3529-3p were statistically significant with the area under the curve (AUC) of 0.905 and 0.933, respectively. CONCLUSION: Altered expression levels of aforementioned miRNAs may be associated with CD pathogenesis. Our findings suggest using these four miRNAs as remarkable biomarkers in the diagnosis of ICD.

Validation of a guideline to reduce variability in diagnosing cervical dystonia.

BACKGROUND: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia. METHODS: Participants were video recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3-6). Inter-/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. RESULTS: The validation sample included 43 idiopathic cervical dystonia patients and 41 control subjects (12 normal subjects, 6 patients with isolated head tremor, 4 with chorea, 6 with tics, 4 with head ptosis due to myasthenia or amyotrophic lateral sclerosis, 7 with orthopedic/rheumatologic neck diseases, and 2 with ocular torticollis). The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). CONCLUSIONS: An accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia.

Fifteen-minute consultation: Evaluation of paediatric torticollis.

Torticollis refers to a state in which the neck is twisted due to excessive contraction or shortening of the muscles on one side. Congenital muscular torticollis, which is more common than acquired torticollis, has an incidence of 0.3%-1.9% among all live births. The clinical approach to torticollis depends on the age at presentation, duration of torticollis and presenting symptoms. The underlying aetiology for torticollis varies with the age of the child. Torticollis can be a presenting feature for life-threatening conditions and thus requires careful evaluation.

[A case report of the first and second branchial arch syndrome with torticollis].

A 54-month-old female patient presented to the department of ophthalmology with abnormal head posture and facial asymmetry for two years. The patient's facial development was asymmetrical, with the middle 1/3 of the left side shorter than the right side. The left ear is less malformed than the right. There was no obvious abnormality in corneal light reflex and eye movement. Head tilt test ( -). So, paralysis of the superior oblique muscle was excluded. In consultation with the department of maxillofacial surgery, the patient was confirmed as the first and second branchial arch syndrome and torticollis.