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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., (© 2024. The Author(s).)

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., (© 2024. The Author(s).)

Background: Congenital muscular torticollis (CMT) is a common musculoskeletal disease affecting infants and young children. If CMT is not treated correctly and timely, it can lead to limited head and neck movements, head and neck deviation, and abnormal posture. In order to improve patients' symptoms and alleviate the negative impact of the disease on their lives, we are committed to exploring the treatment of CMT., Methods: The general clinical and ultrasonographic data of 2599 children with CMT who received standardized treatment at Shenzhen Children's Hospital from 2004 to 2020 were retrospectively reviewed. According to given treatment, children with CMT were divided into the physiotherapy group, physiotherapy combined with glucocorticoid treatment group, and surgical treatment group. We divided children with CMT into local mass, uniform thickening, and atrophy according to ultrasound features. General clinical information, treatment, and ultrasound examination data in each group were compared. Additionally, electronic medical records of 2344 patients admitted due to CMT in 17 tertiary children's hospitals of China's Futang Research Center of Pediatric Development (FRCPD) from 2015 to 2019 were retrospectively analyzed. Data on sex, age, year of admission and discharge, and treatment costs during hospitalization were extracted from the first medical record pages according to the ICD codes. The data were assessed for normality using the Kolmogorov-Smirnov test. Depending on the data distribution, they were analyzed using parametric tests, such as the t-test, or non-parametric tests. Qualitative data are expressed as percentages (%) and analyzed using the chi-square or Fisher's exact probability test, with α = 0.05 as the test level. P < 0.05 was considered to be indicative of a statistically significant difference., Results: Three types of CMT were defined based on sternocleidomastoid muscle ultrasound examination characteristics: local mass, uniform thickening, and atrophy. Age at first diagnosis was 69.21 ± 108.41 days in local mass type group, 216.85 ± 324.09 days in uniform thickening group, and 417.88 ± 739.05 days in atrophy- type group; while age at first physiotherapy use was 94.06 ± 206.49 days, 255.00 ± 430.62 days, 540.92 ± 1059.29 respectively. The children included in local mass type group have shown a high success rate of conservative treatment, with a rate of 7.5% of children underwent surgery. Age at first diagnosis was 112.44 ± 224.12 days in the physiotherapy group, 115.87 ± 144.86 days in the physiotherapy combined with glucocorticoid treatment subgroup, whereas the age at first physiotherapy use was 137.38 ± 312.11 and 196.91 ± 344.26 days respectively. In the observation period (2015-2019) the mean age at surgery for CMT in 17 tertiary children's hospitals of the FRCPD was 50 months. Overall, 663 children with CMT were 1-2 years of age, accounting for the largest proportion (28.3%). Followed by 417 individuals (17.8%) were 7-14 years of age, indicating that there are still more children with CMT receiving surgical treatment later., Conclusions: Early diagnosis and treatment are essential to improve the conservative treatment success rate and achieve good prognosis in children with CMT. Our team's concept for treating CMT is as follows: after diagnosing the children, we will adopt the standardized protocol of treatment, with physiotherapy combined with the injection of glucocorticoid drugs and SCM release surgery, when needed. This program has a high conservative treatment success rate and may facilitate the achievement of better prognosis and reduced teratogenicity rate., (© 2023. The Author(s).)

Objective: To describe the phenomenology of cervical dystonia (CD) in patients with migraine and the effect of its treatment on migraine frequency., Background: Preliminary studies demonstrate that treatment of CD with botulinum toxin in those with migraine can improve both conditions. However, the phenomenology of CD in the setting of migraine has not been formally described., Methods: We conducted a single-center, descriptive, retrospective case series of patients with a verified diagnosis of migraine who were referred to our movement disorder center for evaluation of co-existing, untreated CD. Patient demographics, characteristics of migraine and CD, and effects of cervical onabotulinumtoxinA (BoTNA) injections were recorded and analyzed., Results: We identified 58 patients with comorbid CD and migraine. The majority were female (51/58 [88%]) and migraine preceded CD in 72% (38/53) of patients by a mean (range) of 16.0 (0-36) years. Nearly all the patients had laterocollis (57/58) and 60% (35/58) had concurrent torticollis. Migraine was found to be both ipsilateral and contralateral to the dystonia in a comparable proportion of patients (11/52 [21%] vs. 15/52 [28%]). There was no significant relationship between migraine frequency and dystonia severity. Treatment of CD with BoTNA reduced migraine frequency in most patients (15/26 [58%] at 3 months and 10/16 [63%] at 12 months)., Conclusions: In our cohort, migraine often preceded dystonia symptoms and laterocollis was the most described dystonia phenotype. The lateralization and severity/frequency of these two disorders were unrelated, but dystonic movements were a common migraine trigger. We corroborated previous reports that cervical BoTNA injections reduced migraine frequency. Providers treating patients with migraine and neck pain who are not fully responding to typical therapies should screen for possible CD as a confounding factor, which when treated can reduce migraine frequency., (© 2023 American Headache Society.)

Background: Cervical dystonia is a highly disabling hyperkinetic movement disorder with a lot of nonmotor symptoms. One symptom with a high prevalence is depression, which may negatively affect dystonia patients. The aim of the study was to investigate the impact of depression on disease severity and cognitive functions in cervical dystonia patients. Methods: Patients with cervical dystonia were interviewed and divided into two groups, based on the Patient Health Questionnaire-9: those with no depression or mild depressive features and those with moderate, moderately severe, and severe depression. The severity of dystonia and cognitive functions were assessed and compared in both groups. Results: A total of 52 patients were investigated. Self-assessment of the disease was more negative in clinically significant depressive signs group ( p = 0.004), with a tendency for patients with clinically significant depressive features to have a slightly higher score on objective dystonia scales (TSUI and TWSTRS), but without statistically significant differences ( p = 0.387 and p = 0.244, respectively). Although not statistically significant, a slightly higher MoCA scale score was registered in cervical dystonia patients with clinically insignificant depressive signs. There was a tendency for worse results in the abstraction category in patients with clinically significant depression ( p = 0.056). Conclusions: Patients with clinically significant depression have a more negative self-assessment of the disease and perform worse in abstraction tasks.

The prevalence of dystonia has been studied since the 1980s. Due to different methodologies and due to varying degrees of awareness, resulting figures have been extremely different. We wanted to determine the prevalence of dystonia according to its current definition, using quality-approved registries and based on its relevance for patients, their therapy and the health care system. We applied a service-based chart review design with the City of Hannover as reference area and a population of 525,731. Barrier-free comprehensive dystonia treatment in few highly specialised centres for the last 30 years should have generated maximal dystonia awareness, a minimum of unreported cases and a high degree of data homogeneity. Prevalence [n/1mio] and relative frequency is 601.1 (100%) for all forms of dystonia, 251.1 (42%) for cervical dystonia, 87.5 (15%) for blepharospasm, 55.2 (9%) for writer's cramp, 38.0 (6%) for tardive dystonia, 32.3 (5%) for musician's dystonia, 28.5 (5%) for psychogenic dystonia, 26.6 (4%) for generalised dystonia, 24.7 (4%) for spasmodic dysphonia, 20.9 (3%) for segmental dystonia, 15.2 (3%) for arm dystonia and 13.3 (2%) for oromandibular dystonia. Leg dystonia, hemidystonia and complex regional pain syndrome-associated dystonia are very rare. Compared to previous meta-analytical data, primary or isolated dystonia is 3.3 times more frequent in our study. When all forms of dystonia including psychogenic, generalised, tardive and other symptomatic dystonias are considered, our dystonia prevalence is 3.7 times higher than believed before. The real prevalence is likely to be even higher. Having based our study on treatment necessity, our data will allow better allocation of resources for comprehensive dystonia treatment., (© 2022. The Author(s).)

Introduction: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear palsy. We have, however, encountered a series of patients whose phenotype differed from the above described entities., Methods: We describe a cohort of patients in whom typical idiopathic isolated (primary) late-onset focal or segmental (predominantly cervical) dystonia preceded the development of parkinsonism by several years, sometimes decades., Results: In a cohort of 450 patients followed in our botulinum toxin injections clinic, we identified 11 (2.4%; 7 women) who developed parkinsonism at a median of 14 years after the onset of dystonia. Median age at onset of parkinsonism was 70 years (range 59-87), usually manifesting with a new tremor or a change of tremor pattern, complaints of 'slowing down' or new walking difficulties. Parkinsonism resembled PD in 5 (one pathologically confirmed); the remainder had atypical parkinsonism of MSA (n = 3) or indeterminate phenotype (n = 3)., Conclusion: The relatively frequent occurrence of parkinsonism after long-standing dystonia would suggest a link between the two, in line with evidence from other clinical reports, imaging studies, animal models and genetics. It appears that in some cases of dystonia this could be an antecedent manifestation of a syndrome with parkinsonism developing later, or be a risk factor for parkinsonism. In practice, it is important for clinicians to be alert to new symptoms/signs in patients with long-standing dystonia. From a research point of view, longitudinal case-control studies would be required to further investigate the link between long-standing dystonia and subsequent parkinsonism., (Copyright © 2021. Published by Elsevier B.V.)

Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups., Methods: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups., Results: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort., Conclusions: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention., (© 2021 The Authors. Brain and Behavior published by Wiley Periodicals LLC.)

Background: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized., Materials and Methods: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part., Results: We identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site., Discussion and Conclusion: Spread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Background: Although head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear., Objectives: We examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain., Methods: The severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition., Results: HT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01)., Conclusions: The distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.

Objective: To report the incidence of torticollis diagnosed in infants treated for neonatal abstinence syndrome (NAS) and compare neonates with and without torticollis., Study Design: This prospective cohort study reports on infants examined at 1-4 months of age. Numerous obstetrical/newborn factors and other drugs used during gestation were compared., Results: Of 501 neonates treated for NAS, 421 (84%) were seen for follow-up. Of these, 105 (24.9%) were diagnosed with torticollis. The only significant obstetrical/newborn factor identified was a lower rate if the parents were the primary caregiver after hospital discharge. Of the 105 cases, 88 (84%) were right-sided and 17 (16%) were left-sided., Conclusions: These data demonstrate that torticollis is a common diagnosis in infants examined at 1-4 months of age after being treated for NAS with a predilection for this to be right-sided. The etiology for this is uncertain, but newborns treated for NAS need close follow-up post discharge.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain.

Background: Cervical dystonia is the most common form of focal idiopathic dystonia and is frequently associated with pain. Headaches are not considered to be more prevalent among patients presenting with cervical dystonia, and headaches attributed to craniocervical dystonia are considered to be a rare disorder, despite the lack of studies and clinical information regarding the subject., Objectives: To investigate the prevalence, characteristics and impact of headaches attributed to craniocervical dystonia in cervical dystonia patients receiving treatment with botulinum toxin type-A (BoT-A)., Methods: Twenty-four patients presenting with cervical dystonia were assessed before receiving their scheduled BoNT-A injections and then again approximately 4 and 16 weeks after, regarding the clinical characteristics of their dystonia and headaches. Headaches were classified in accordance with the current International Classification of Headache Disorders. We used the Short Form-36 Health Survey, Hospital Anxiety and Depression Scale, Headache Impact Test-6, Toronto Western Spasmodic Torticollis Rating Scale and McGill Pain Questionnaire., Results: Nineteen patients (79.1%) presented with cervical dystonia associated with pain and 18 (75.0%) with headaches. The prevalence of headaches attributed to craniocervical dystonia was 29.2%; HIT-6: 60.1 ± 9.9. Patients with headaches presented significantly poorer TWSTRS pain scores, compared to patients with no headaches. Those with headaches attributed to craniocervical dystonia presented with more disability and demonstrated a significant improvement in the impact of headaches after BoNT-A injections, together with an improvement in the dystonia., Conclusions: Headaches are highly prevalent amongst cervical dystonia patients, have an impact on their quality of life and improves after BoNT-A injections., Significance: We found that headaches are more frequent among patients with cervical dystonia than previously thought, and that they contribute towards an overall increase in pain in these patients. Headaches attributed to craniocervical dystonia are associated with greater disability among patients with cervical dystonia. These headaches improve after botulinum toxin injections, in parallel with the improvement of cervical dystonia symptoms., (© 2020 European Pain Federation - EFIC®.)

Background: Tremor is an important phenotypic feature of dystonia. Using the new concept (Col-Cap) of classification we examined the frequency of tremor in cervical dystonia (CD) patients, their main subtypes and muscles injected., Methods: In this large study conducted at multiple movement disorder centres in Europe and India, between January and June 2019, we examined 293 patients with idiopathic CD who were all treated with botulinum toxin (BTX)., Results: The dystonic head tremor (DHT+) was present in 57.6 % of CD patients and they had a significantly longer duration of symptoms than patients without head tremor (DHT-). In DHT+ patients torticaput was the most common subtype and the majority (63.3%) had one or two subtypes only. There was no significant difference between the number of unilateral injections for any of the muscles in the DHT+ and DHT- groups, while the number of patients receiving bilateral injections in splenius capitis (78 vs 25; p = 0.00001), sternocleidomastoid (31 vs 6; p = 0.0005), trapezius (28 vs 9; p = 0.01), and obliquus capitis inferior (15 vs 2; p = 0.008) were significantly more in the DHT+ group. The mean doses of all three types of BTX/A were not significantly different between the two groups., Conclusions: The frequency of head tremor was 57.6% in our CD patients and torticaput was the most common dystonic subtype associated with tremor. Simple forms of CD seemed more likely associated with head tremor, than complex forms of CD. Most of the DHT+ patients received bilateral injections. The use of 'Col-Cap' classification was helpful in the identification of muscles likely to be involved in tremor in CD patients., Competing Interests: Dr. Sanjay Pandey and Dr. Christian Altmann have no conflict of interest. All other authors were speakers and consultants for Allergan, Merz/Desitin and Ipsen, but none relevant to this study (and had no financial or other support)., (Copyright: © 2020 The Author(s).)

Background: Current cervical dystonia (CD) incidence estimates are based on small numbers in relatively ethnically homogenous populations. The frequency and consequences of delayed CD diagnosis is poorly characterized., Objectives: To determine CD incidence and characterize CD diagnostic delay within a large, multiethnic integrated health maintenance organization., Methods: We identified incident CD cases using electronic medical records and multistage screening of more than 3 million Kaiser Permanente Northern California members from January 1, 2003, to December 31, 2007. A final diagnosis was made by movement disorders specialist consensus. Diagnostic delay was measured by questionnaire and health utilization data. Incidence rates were estimated assuming a Poisson distribution of cases and directly standardized to the 2000 U.S. census. Multivariate logistic regression models were employed to assess diagnoses and behaviors preceding CD compared with matched controls, adjusting for age, sex, and membership duration., Results: CD incidence was 1.18/100,000 person-years (95% confidence interval [CI], 0.35-2.0; women, 1.81; men, 0.52) based on 200 cases over 15.4 million person-years. Incidence increased with age. Half of the CD patients interviewed reported diagnostic delay. Diagnoses more common in CD patients before the index date included essential tremor (odds ratio [OR] 68.1; 95% CI, 28.2-164.5), cervical disc disease (OR 3.83; 95% CI, 2.8-5.2), neck sprain/strain (OR 2.77; 95% CI, 1.99-3.62), anxiety (OR 2.24; 95% CI, 1.63-3.11) and depression (OR 1.94; 95% CI, 1.4-2.68)., Conclusions: CD incidence is greater in women and increases with age. Diagnostic delay is common and associated with adverse effects. © 2019 International Parkinson and Movement Disorder Society., (© 2019 International Parkinson and Movement Disorder Society.)

The link between dystonia and tremor has been known for decades, but the question of whether they are two separate illnesses or just different manifestations of one disease with the same pathophysiological background remains unanswered. We distinguish two types of tremor in dystonia: dystonic tremor (DT), which appears on the body part affected by dystonia, and tremor associated with dystonia (TAWD), which appears in locations where the dystonia does not occur. In this study, the frequency of occurrence of different forms of tremor was determined by clinical examination in a group of adult-onset isolated cervical dystonia (CD) patients treated with regular local injections of botulinum toxin A in our department. In total, 120 patients were included in the study, of which 70 (58.3%) had DT of the head. TAWD was, in all 14 cases (11.7%), observed on the upper limbs, in the form of static or intentional tremor. The aim of this study was to point out the presence of TAWD as one of the clinical signs of CD. DT occurred in more than half of the patients and appears to be a relatively common part of the clinical picture in patients with CD.

Background: Hip dysplasia, congenital muscular torticollis, plagiocephaly, and metatarsus adductus are known to be associated. The etiology of infantile idiopathic scoliosis and its association with the aforementioned conditions is unknown. This study reviews a series of infantile scoliosis patients to address this gap., Methods: The medical records of all patients treated with casting for early-onset scoliosis (EOS) from 2001 to 2016 were retrospectively reviewed. Inclusion criteria were a diagnosis of idiopathic EOS and age below 4 years at the time of the first cast. Demographic information, comorbid conditions, and radiographic measurements including Cobb angle and acetabular index (AI) were collected. The first acceptable anteroposterior pelvis radiograph for each patient was measured. An AI≥30 degrees was defined as hip dysplasia. A measurement between 25 and 30 degrees was defined as a "hip at risk.", Results: Between 2001 and 2016, 142 patients were treated with casting. Eighty-one patients met the inclusion criteria. The mean age at the first cast was 19.3 (±7.5) months and the mean Cobb angle was 53.6 (±18.8) degrees. There was no significant correlation between Cobb angle and AI. Nine patients met radiographic criteria for hip dysplasia (11.1%), only 4 of whom had been previously diagnosed. Thirty-six patients (44.4%) met the criteria of having at least 1 hip "at risk" of hip dysplasia. Ten patients (12.3%) had been diagnosed with torticollis and 13 patients (16.0%) with plagiocephaly. Three patients (3.7%) had been diagnosed with metatarsus adductus or clubfoot. In total, 30.9% of patients (25/81) had at least one of the above comorbid conditions., Conclusions: In a large group of children treated for idiopathic EOS, we found a high prevalence of commonly associated conditions-hip dysplasia, torticollis, plagiocephaly, metatarsus adductus, and clubfoot. In 6.2% of our sample, a diagnosis of hip dysplasia was not made in a timely manner despite routine radiographic spine follow-up. With increasing subspecialization within pediatric orthopaedics, surgeons need to maintain vigilance in assessing the entire child., Level of Evidence: Level IV.

Aim: To clarify the structure of sleep disorders in cervical dystonia and assess their relationship with anxiety and depressive disorders, as well as the impact on quality of life., Material and Methods: Twenty-five patients diagnosed with cervical dystonia (CD) were examined using neurological and psychometric methods (HADS, HAM-D, TAS, SCID-II, SF-36, PSQI). Polysomnographic study was performed using a Somnolab 2 system (Weinmann, Germany)., Results: Nineteen patients (76%) from the total sample showed increases in anxiety and depression. Sleep disorders were detected in all patients diagnosed with anxiety and depressive disorders. According to questionnaires, anxiety, depression, and sleep disturbances were significantly correlated with patients' quality of life. The most common sleep disorders were intrasomic disorders (waking up during sleep) ( n =19; 76%), less common were presomnic ( n =8; 32%) and postsomnic ( n =11; 44%). Motor symptoms caused sleep disturbances only in 10 patients (40%). The specific features of sleep disorders in patients with CD detected by polysomnography are a decrease in the representation of delta-sleep, along with an increase in the phase of REM sleep, compared to physiological normal values., Conclusions: Sleep disturbances (mainly frequent waking during sleep) are widely represented in patients with cervical dystonia, are comorbid to anxiety and depressive disorders and significantly correlate with the poorer quality of life.

Background: Among the most prominent health problems marring the global poultry industry for several decades are skeletal abnormalities. The aim of this study was to investigate a recent emergence of a novel form of skeletal deformity affecting cervical spine in broiler chickens. This work presents the natural history of this newly emerging skeletal anomaly along with long term observations of epidemiological trends in commercial broiler flocks, and clinical and pathological features., Results: In distinction from other forms of skeletal deformities commonly reported in broiler chickens, this new form of cervical spine anomaly have been observed in newly hatched chicks and in fully developed embryos that died in the shell. On clinical and post mortem examination this condition presents characteristic features consistent with congenital cervical scoliosis and torticollis (CCST). The pathogenesis of CCST appears to be linked to pathological remodeling of the cervical vertebrae bone associated with excessive activity of osteoclasts. Long term observations indicate that the incidence of CCST showed increasing epidemiological trends over time. More recently CCST has been observed in newly hatched chicks with incidence ranging from 0.1 to > 1%, and in fully developed embryos that failed to hatch about 4 to 5%., Conclusions: The increasing trends in incidence of CCST in commercial broiler flocks are of concern from an economic perspective, and also represent a very specific and important aspect of animal welfare.

Background: Cervical dystonia (CD) is the most common form of dystonia. The onset of CD is usually before 60 years of age and it may cause severe functional and psychosocial impairment in everyday life. Recently non-motor symptoms have been reported to occur in CD substantially affecting the quality of life., Methods/patients: We studied comorbidities of patients with primary focal CD in Finland based on ICD-10 codes obtained from the care registry and patient records of 937 confirmed adult isolated focal CD patients between the years 2007-2016. The retirement months and diagnosis of retirement were calculated from pension registry information. The results were compared with 3746 age and gender-matched controls., Results: Most prominent comorbidities with primary focal CD were depression (14%), anxiety (7%), and back pain (11%). The retirement age was significantly younger in CD patients compared to control group controls (59.0 years, 95% CI 58.5-59.5 vs. 61.7 years, 95% CI 61.6-61.9) years, p < 0.001). For dystonia patients the most common diagnoses for retirement due to sickness were dystonia (51%), depression (14%), and anxiety (8%). Patients with anxiety and depression retired earlier than other dystonia patients., Discussion: Cervical dystonia considerably reduces working ability and leads to earlier retirement. Anxiety and depression are most notable comorbidities and their co-occurrence further reduces working ability. Our results suggest that more health care resources should be administered in treatment of CD to longer maintain working ability of CD patients. Further, psychiatric comorbidities should be taken into consideration in CD treatment.

Background: Cervical dystonia (CD) can present with head tremor. It is unclear whether ataxic features are differentially associated with this phenotype at onset of CD., Objectives: We sought to evaluate: (1) the demographic features of CD patients with (Tr-CD) and without head tremor (nTr-CD) at onset, and (2) the differential ataxic features between these CD subtypes., Methods: For the first objective, we compared demographic data in Tr-CD versus nTr-CD subtypes in the entire cohort of CD subjects enrolled in the Dystonia Coalition Natural History and Biorepository studies (n = 1608). For the second objective, we rated the standardized videos from consecutively enrolled Tr-CD subjects (n = 50) and age-, gender-, and disease duration-matched nTr-CD subjects (n = 50) for ataxia severity scoring using the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS); and for dystonia severity using the Toronto Western Spasmodic Torticollis Rating Scale section-I (TWSTRS) and the Global Dystonia Rating Scale (GDRS)., Results: Of 1,608 subjects, 18.1% (n = 291) were classified as Tr-CD and 81.9% (n = 1317) as nTr-CD. The Tr-CD cohort was older, predominantly female, and had longer disease duration than the nTr-CD cohort (p = 0.01). Compared to nTr-CD, Tr-CD subjects had worse generalized ataxia, speech, and gait and posture scores. High ataxia severity with low dystonia severity distinguished Tr-CD from nTr-CD with high accuracy (area under the curve, 0.91 (95% CI 0.85-0.97)., Conclusions: Head tremor at disease onset represents a clinically distinguishable subtype of cervical dystonia affecting predominantly older women, with worse ataxia and milder dystonia than the non-tremulous dystonic phenotype.

Purpose: Although pediatric physical therapists may evaluate and treat infants with both congenital muscular torticollis (CMT) and gastroesophageal reflux disorder (GERD), a literature review found only 1 article suggesting a connection between these diagnoses. This study investigates a correlation between CMT and GERD., Methods: A retrospective chart review spanning 5 years including 2519 infants younger than 12 months examined the correlation between CMT, GERD, and other comorbidities including developmental dysplasia of the hip, oligohydramnios, multiparity, and breech positioning., Results: The CMT cohort had a significantly higher rate of GERD versus the general population. For all age groups, the GERD rate was significantly higher in the CMT population than in the reference population. The rate of developmental dysplasia of the hip, oligohydramnios, and breech positioning was higher in infants with both CMT and GERD., Conclusions: The increased likelihood of infants with CMT also having GERD has clinical implications for the pediatric physical therapist.

Objective: To assess the relative risk, predictive value and population attributable risk fraction of pre-school episodic syndromes for later migraine in primary school age children., Methods: This retrospective cohort study used health insurance data on 55,035 children born in 2006 with no diagnosis of migraine up to the age of 5 years. The relative risk, probability and population attributable risk fraction of migraine prompting a physician visit at the age of 6-10 years in children with episodic syndromes included in the International Classification of Headache Disorders (benign paroxysmal torticollis, benign paroxysmal vertigo, cyclic vomiting syndrome, recurrent abdominal symptoms and abdominal migraine) and those not included in the International Classification of Headache Disorders (pavor nocturnus, somnabulism and bruxism) diagnosed up to the age of 5 years were determined., Results: The period prevalence of individual episodic syndromes ranged between 0.01% and 1.40%. For episodic syndromes included in the International Classification of Headache Disorders (recurrent abdominal symptoms and abdominal migraine) and for the episodic syndromes not included in the International Classification of Headache Disorders (somnambulism), the risk for later migraine was increased by factors of 2.08, 21.87 and 3.93, respectively. The proportion of risk for migraine in primary school children explained by any episodic syndromes included in the International Classification of Headache Disorders was 2.18% and for any episodic syndromes not included in the International Classification of Headache Disorders it was 0.59%., Conclusion: Several pre-school episodic syndromes are risk factors for migraine in primary school age children. The fraction of migraine in primary school age children explained by prior episodic syndromes, however, is below 3%. A probability to develop primary school age migraine above 50% was only observed for abdominal migraine.

Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia., Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. All subjects completed the following questionnaires: Beck Depression Inventory, Beck Anxiety Inventory, Social Phobia Inventory, Apathy Scale, Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Brief Pain Scale, and the World Health Organization Quality of Life brief scale., Results: The patients presented more symptoms of depression, anxiety, and apathy than the control subjects. They also reported worse quality of sleep and more pain complaints. Patients with blepharospasm were the most symptomatic subgroup. The patients had worse quality of life, and the presence of pain and symptoms of apathy and depression were the main influences for these findings, but not the severity of motor symptoms., Discussion: Patients with dystonia, especially those with blepharospasm, showed higher prevalence of symptoms of depression, anxiety, apathy, worse quality of sleep, and pain. These symptoms had a negative impact on their quality of life., Competing Interests: Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. The authors’ institutional ethics committee has approved this study and all patients have provided written informed consent.

Background: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia., Methods: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations., Results: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed., Discussion: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines.

Aim: Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases., Method: In this cross-sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed., Results: Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction., Interpretation: Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder., What This Paper Adds Ok: Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder., (© 2018 Mac Keith Press.)

Introduction: Olfactory dysfunction has been established as a frequent non-motor symptom in neurodegenerative and movement disorders such as Parkinson's disease, Alzheimer's disease, and hereditary ataxias. To expand knowledge of non-motor symptoms in dystonia, and to test for a potential endophenotype, we examined olfactory function in cervical dystonia (CD)., Methods: In patients with CD, and neurologically healthy controls, olfactory function was examined by "Sniffin' Sticks", a test of nasal chemosensory function based on pen-like odor dispensing devices. This test enables to define an individual's odor threshold, odor discrimination, and odor identification. Owing to the etiological heterogeneity of olfactory dysfunction, strict exclusion criteria were applied, especially smoking, and sinonasal disease., Results: 58 CD patients completed the study. Olfactory dysfunction was present in 29 patients (50.0%), significantly more frequent than in two groups of matched healthy control subjects (20.7%; 22.4%; p = 0.001). Analysis of the pattern of hyposmia revealed that odor threshold (p = 0.002), and odor identification (p < 0.001) were significantly worse in CD patients compared to controls, while odor discrimination was unchanged. Higher age was the only clinical characteristic to correlate with olfactory dysfunction in CD., Conclusions: Our observations establish olfactory dysfunction, possibly of both peripheral and central origin, as a new non-motor, and probably motor-unrelated, symptom of CD. Additionally, the potential involvement of cerebellar functions in olfactory identification and discrimination tasks, as well as in pathophysiology of dystonia, justifies further studies of olfactory dysfunction as a possible endophenotype in dystonia., (Copyright © 2018. Published by Elsevier Ltd.)

Introduction: Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM)., Methods: We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM., Results: Fourteen patients were diagnosed with BPTI, 39 with BPVC, and 100 with VM. Abnormal rotary chair testing was associated with progression from BPTI to BPVC (n = 8, p = 0.045). Eight (57.1%) patients with BPTI and 11 (28.2%) with BPVC had motor delay. Eleven (78.6%) patients with BPTI and 21 (53.8%) with BPVC had balance impairment. Six BPTI patients developed BPVC (42.9%), six BPVC patients developed VM (15.4%), and two patients progressed through all three disorders (2%). One BPTI patient progressed directly to VM., Discussion: Most patients with BPTI will experience complete resolution in early childhood, but some will progress to BPVC, and similarly many patients with BPVC will progress to VM. Parents of children with these disorders should be made aware of this phenomenon, which we refer to as "the vestibular march." Children with BPTI and BPVC should also be screened for hearing loss, otitis media, and motor delay., (Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

In this retrospective cohort study, we assessed the incidence of torticollis in infants with a history of neonatal abstinence syndrome. Understanding the elevated risk of torticollis in this population is important for early identification and treatment., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Objective: To investigate the prevalence of substance abuse (SA) in patients with cervical dystonia (CD) and to correlate it with prevalence of psychiatric disorders., Methods: Data on anxiety, depression, dystonia severity, and substance abuse were collected from ten sites participating in the Dystonia Coalition. Patients were divided into two groups according to the presence of SA, utilizing Structured Clinical Interview for DSM-4 criteria. Wilcoxon Rank-Sum test was used to analyze the difference in median scores on the questionnaires between the groups. Chi-square test was used to analyze association between opiate and benzodiazepine use and SA. Association between TWSTRS severity and SA and medication use was assessed. A two-tailed p value of < 0.05 was considered significant. SAS 9.3 (SAS Institute Inc., Cary, NC, USA) was used for all analyses., Results: Of 208 CD patients, 23 (11%) were identified with SA; 26.3% of patients with SA were on opiates compared to 7.2% of CD patients without SA (p = 0.006). Compared to non-SA patients, those experiencing SA were more likely male (88.9%; p = 0.0007), younger (median age 55; p = 0.031), and scored worse on questionnaires assessing depression (p = 0.044, p = 0.005), anxiety (p = 0.003), and dystonia psychiatric severity (p = 0.033). The median TWSTRS motor severity scores were higher in SA patients compared to non-SA patients (20 versus 16, p = 0.0339). The median TWSTRS total disability, motor, and pain scores were higher in patients on opiates than patients who were not (12 versus 8, p = 0.0071; 18.5 versus 16, p = 0.0243; 12.4 versus 6.7, p = 0.0052, respectively)., Conclusions: Potential risk factors for SA in CD patients include younger age and male gender with comorbid anxiety, depression and other psychiatric problems. Caution should be exercised when prescribing drugs with potential for abuse in these patients.

Background: Head tremor may be observed in the presence of cervical dystonia and sometimes coexists with headache. We wished to investigate the presence of headache in dystonic head tremor., Methods: We studied the files of 19 patients from our outpatient clinic (1997-2017) with dystonic head tremor and assessed the co-occurrence of headache. We also performed a literature search of the topic., Results: Cervicogenic headache was present in nearly 37% of patients with dystonic head tremor. More than 85% of our patients presented with a "no-no" head tremor., Discussion: Headache is common in dystonic head tremor. Cervicogenic headache seems to be more frequent in patients with dystonic head tremor than in the general population. Future studies should compare the presence of cervicogenic headache in essential head tremor patients with that in patients suffering from dystonic head tremor., Competing Interests: Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study was reviewed by the authors’ institutional ethics committee and was considered exempted from further review.

Aim of this study is to identify factors contributing the occurrence of neck lateral shift (LS) in patients with cervical dystonia (CD). A retrospective analysis focused on the treatment with botulinum toxin (BTX) was conducted on 38 consecutive idiopathic CD patients comparing subjects with and without LS. The main result was the evidence of a significantly higher BTX inter-side dose difference in patients with LS suggesting that this uncommon phenotype may be an artifact of chronic therapy with BTX.

Background: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort., Methods: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread., Results: Site of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age., Conclusions: Subgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia. © 2016 International Parkinson and Movement Disorder Society., (© 2016 International Parkinson and Movement Disorder Society.)

Ocular motor neural integrators ensure that eyes are held steady in straight-ahead and eccentric positions of gaze. Abnormal function of the ocular motor neural integrator leads to centripetal drifts of the eyes with consequent gaze-evoked nystagmus. In 2002 a neural integrator, analogous to that in the ocular motor system, was proposed for the control of head movements. Recently, a counterpart of gaze-evoked eye nystagmus was identified for head movements; in which the head could not be held steady in eccentric positions on the trunk. These findings lead to a novel pathophysiological explanation in cervical dystonia, which proposed that the abnormalities of head movements stem from a malfunctioning head neural integrator, either intrinsically or as a result of impaired cerebellar, basal ganglia, or peripheral feedback. Here we briefly recapitulate the history of the neural integrator for eye movements, then further develop the idea of a neural integrator for head movements, and finally discuss its putative role in cervical dystonia. We hypothesize that changing the activity in an impaired head neural integrator, by modulating feedback, could treat dystonia., (© The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Aim: The purpose of this study was to assess the prevalence of transient functional motor asymmetry in infants with congenital postural torticollis., Methods: This was a retrospective review of the medical records of infants with postural torticollis. We analyzed epidemiological, obstetric, perinatal data, physical therapy, physician assessments, and clinical follow-up for two years after diagnosis., Results: Of 173 children, 44 (25.4%, 95% confidence interval = 19.5 to 32.4) demonstrated functional asymmetry. Demographic and obstetrical data did not differ between the asymmetry/nonasymmetry groups. Delayed motor development (P = 0.01) and plagiocephaly (P = 0.032) were more common in infants with motor asymmetry. No difference was observed in the frequency of referral for further neurological diagnosis between the group with functional asymmetry and that without asymmetry. Among the 44 patients with functional asymmetry, 78% depicted no evidence of torticollis by age two years, and the motor asymmetry had disappeared in 82%., Conclusion: Benign, transient functional motor asymmetry occurred in a quarter of infants with congenital postural torticollis. Transient motor delay was also significantly more common in the asymmetry group. In most instances, motor asymmetry and motor delay disappeared by age two years. Plagiocephaly was more common in the asymmetry group. Clinician awareness of this transient asymmetry may have avoided unnecessary diagnostic tests in these infants., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: There are no previous studies undertaken about primary focal dystonia in the Faroe Islands. The aim of this study was to establish the prevalence of these diseases in the Faroese population., Methods: Patients were ascertained and registered prospectively from January 1, 1994, through 2013 when they were examined at the Neurological Clinic of the Faroese National Hospital or at a private neurological practice, which together constitutes all the available neurological services in the Faroe Islands., Result: On January 1, 2014, there were 29 individuals within the entire Faroese population of 48,100 with primary focal dystonia: 23 with torticollis, four with writer's cramp, one with oromandibular dystonia, and one with laryngeal dystonia; no one had blepharospasm. The prevalence of primary focal dystonia was 602 per million (395-873) (95% confidence limit). The most common subtype was cervical dystonia with a prevalence of 478 (332-728) per million., Conclusion: The study yielded that (i) the prevalence of primary focal dystonia of 602 (395-873) per million is far higher in the Faroe Islands than that revealed in most other regions studied and (ii) the prevalence of the cervical dystonia subtype is far more common than elsewhere with the highest prevalence of 478 (332-728), which is higher than described in any previously published survey. As the study is serviced-based, the result may underestimate actual occurrence; thus, prevalence rates may be even higher., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Previously called "childhood periodic syndromes that are commonly precursors of migraine" in International Headache Classification of Headache Disorders (ICHD)-II, these disorders were renamed "episodic syndromes that may be associated with migraine" in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine, and cyclical vomiting syndrome, as well as infantile colic, which was recently added under the appendix section in ICHD-III beta., (© 2015 American Headache Society.)

We assessed the course of psychiatric disorders in 23 cervical dystonia patients by using the structured clinical interview for DSM-IV and different rating scales. Patients were studied on two occasions 5 years apart. There were no differences in psychiatric disorders and severity of psychiatric symptoms between the two evaluations, whereas the severity of dystonia was milder at the second evaluation. Psychiatric symptoms likely represent a primary disorder in cervical dystonia patients., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

Dystonia is a neurological disorder characterized by intermittent or sustained muscle contractions that cause abnormal, usually repetitive, movements and postures. Dystonic movements can be tremulous and twisting and often follow a pattern. They are frequently associated with overflow muscle activation and may be triggered or worsened by voluntary action. Most voluntary muscles can be affected and, in the case of the neck muscles, the condition is referred to as cervical dystonia (CD), the most common form of dystonia. The high incidence of pain distinguishes CD from other focal dystonias and contributes significantly to patient disability and low quality of life. Different degrees of pain in the cervical region are reported by more than 60% of patients, and pain intensity is directly related to disease severity. Botulinum toxin (BoNT) is currently considered the treatment of choice for CD and can lead to an improvement in pain and dystonic symptoms in up to 90% of patients. The results for BoNT/A and BoNT/B are similar. The complex relationship between pain and dystonia has resulted in a large number of studies and more comprehensive assessments of dystonic patients. When planning the application of BoNT, pain should be a key factor in the choice of muscles and doses. In conclusion, BoNT is highly effective in controlling pain, and its analgesic effect is sustained for a long time in most CD patients.

Objective: This study investigated whether torticollis (congenital or acquired) in infants with plagiocephaly affects the achievement of specific gross motor milestones., Methods: A total of 175 infants affected by plagiocephaly with or without torticollis were recruited and included in this prospective trial. Anthropometric and clinical variables were recorded at baseline. The infants were included in a physiotherapy treatment program, and they were monthly assessed until hospital discharge., Results: Significant differences (P < 0.05) were observed in the achievement of rolling over, crawling, and standing skills depending on the specific profile (plagiocephaly and plagiocephaly with congenital or acquired torticollis). After adjusting for the severity of the plagiocephaly and the age at referral, the torticollis was significantly (P < 0.05) associated with crawling and standing skills., Conclusions: The findings suggest that the presence or absence of congenital or acquired torticollis is an important factor that affects gross motor development in infants with plagiocephaly.

Anterocollis/anterocaput is a subtype of cervical dystonia and the most infrequent of its abnormal head-positions. Anterocollis can be differentiated from anterocaput by the abnormal angle between thoracic and cervical spine or between skull-base and vertebrum-1 in anterocaput. Anterocollis/anterocaput is classified as primary (idiopathic) or secondary (due to identifiable neurological disease) and as pure or complex. Complex anterocollis is most frequently associated with other types of focal dystonia, such as torticollis or laterocollis. Patients complain about impaired head-movement and report to release the fixed head-position occasionally by a "geste antagonistique". Neurological exam shows tonic (contractures with anteflexion) or tremulous head-movements and neck-posturing. The diagnosis is based on the clinical presentation, needle-electromyography to identify affected muscles and rule out other conditions, X-ray of the cervical/thoracic spine, and cerebral MRI. Treatment of choice is botulinum toxin. If botulinum toxin is ineffective, drug-treatment can be tried. If botulinum toxin and drug treatment fail, deep brain-stimulation of the internal pallidal globes should be considered., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Migraine equivalents are a group of periodic and paroxysmal neurologic diseases. Because headache is not a prominent symptom, the diagnosis might be challenging. The objective of the study was to evaluate the frequency and outcome of migraine equivalents. This was a retrospective study. We included benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of infancy, abdominal migraine, cyclic vomiting, aura without migraine, and confusional migraine. We evaluated the frequency of events, treatment, and outcome. Out of 674 children with headache, 38 (5.6%) presented with migraine equivalents. Twenty-one were boys and the mean age was 6.1 years. Fifteen had abdominal migraine, 12 benign paroxysmal vertigo, 5 confusional migraine, 3 aura without migraine, 2 paroxysmal torticollis, and 1 cyclic vomiting. Prophylactic treatment was introduced in 23 patients; 4 lost follow-up and 19 had significant improvement. We conclude that the correct diagnosis of migraine equivalents enables an effective treatment with an excellent outcome., (© The Author(s) 2013.)

Background: Deformational plagiocephaly (DP) and torticollis are commonly seen in infants and they often co-occur, but little is known of the prevalence and relationship of these conditions in the immediate newborn period. No previous studies focusing on the relationship between cranial shape and cervical motion in newborns can be found., Objectives: Determining the incidence rates and characteristics of DP and torticollis and examining the relationship between cervical range of motion (ROM), cranial size and cranial shape in neonates., Methods: A single-center, descriptive cross-sectional study including 155 healthy neonates was conducted. Participants were examined during their birth hospitalization. Oblique Cranial Length Ratio (OCLR) and Cephalic Index (CI), indicating cranial asymmetry and shape, were measured from standardized digital photographs with a computer-based cephalometric method. Cervical ROM was measured with goniometry., Results: 7.7% of the newborns had DP and 3.9% had torticollis. 46.4% presented lesser cervical imbalances. DP was associated with gestational diabetes (adjusted OR 5.6; p<0.01) and vacuum assisted delivery (adjusted OR 6.8; p<0.01), but not at all with torticollis. CI correlated strongly with cervical ROM in all directions, while no definite association between cranial asymmetry and cervical motion could be found., Conclusions: DP and torticollis are common and minor cervical imbalances very common in normal newborns. Our results support the theory that in most cases neither DP nor torticollis is congenital, but rather develops and worsens synergistically in early infancy. Still, although no direct association between DP and torticollis was found, cranial shape is linked to cervical motion at birth., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

On the basis of observational studies, child health practitioners in primary care settings should consider the diagnosis of congenital muscular torticollis (CMT)in infants with risk factors from birth history for intrauterine malpositioning or constraint (C). On the basis of observational studies, CMT is often associated with other conditions, including positional plagiocephaly and gross motor delays from weakened truncal muscles and/or lack of head control in early infancy (C). On the basis of observational studies, child health practitioners should counsel parents that infants should be on their stomachs frequently whenever they are awake and under direct adult supervision to develop their prone motor skills (C). On the basis of consensus, early identification of CMT(with or without positional plagiocephaly) and prompt referral to a physical therapist experienced in the treatment of CMT should be considered to avoid more costly or invasive treatments, such as cranial orthoses or surgery (D).

Background: The etiology of primary dystonia remains unclear. Recent genetic studies suggest that the Val66Met polymorphism of the BDNF gene is a genetic modifier in cranial-cervical dystonia in Caucasians. However, the finding is not consistent., Patients and Methods: A total of 193 patients with primary cranial-cervical dystonia from the Department of Neurology, West China Hospital of Sichuan University was included. From the same region, 216 healthy individuals were recruited as a control group. The Val66Met SNP was identified by polymerase chain reaction-restriction fragment length polymorphism., Results: In the present study, cervical dystonia (59.59%) was the most common type of primary cranial-cervical dystonia. No significant difference was found in the genotype and minor allele frequencies between all patients and controls, between cervical dystonia patients and controls, and between craniocervical dystonia patients and controls. However, significant differences were found in the genotype and minor allele frequencies of Val66Met SNP between blepharospasm (BSP) patients and controls (P=0.0080 and P=0.0042, respectively), and between BSP patients and patients with craniocervical derived from BSP (P=0.0010 and P=0.0002, respectively)., Conclusion: Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia. More association studies involving a larger number of participants are needed to confirm the present findings., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Unlabelled: Migraine is common in pediatric neurology practice, while migraine variants are rare and pose diagnostic problems., Objective: The aim was to establish the occurrence of migraine variants in pediatric neurology practice and among migraine, and to discuss their presentation., Patients and Methods: The files of 2509 newly diagnosed patients, aged 0-18 years, treated as in- and out-patients in the Neuropediatric Ward at the Plovdiv Medical University Hospital between 2002 and 2006 were examined retrospectively. Migraine forms were diagnosed according to ICHD-II. Benign paroxysmal torticolis and alternating hemiplegia of childhood were also accepted as migraine variants according to proposed diagnostic criteria in the appendix of ICHD-II. Some specific forms like acute confusional migraine (ACM), Alice in wonderland syndrome (AWS), ophthalmoplegic migraine were also diagnosed although not included as migraine variants in the ICHD-II classification., Results: 111 patients met diagnostic criteria for migraine. Patients with migraine variants comprised 24.3% of migrainous cases. Basilar type migraine was the most common (6.3% of all migrainous patients), followed by benign paroxysmal vertigo (5.4%), hemiplegic migraine (3.6%), ACM (2.7%), benign paroxysmal torticolis (2.7%), typical aura without headache (1.8%), abdominal migraine (1.8%), AWS (0.9%), ophthalmoplegic migraine (0.9%) and cyclical vomiting (0.9%). Alternating hemiplegia of childhood and retinal migraine was not found. Some patients either presented or were classified as different migraine variants., Conclusion: Basilar type migraine was the most common migraine variant. ACM and AWS should be regarded as distinct entities in the ICHD as migraine with complex aura. Benign paroxysmal torticollis also deserves its place as a migraine variant. Cases of ophthalmoplegic migraine with spontaneous remission and no cranial nerve enhancement on MRI should be considered as migraine form. Analyzing migraine variants will contribute to better awareness and adequate diagnosis., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Periodic disorders of childhood often represent precursors of migraine. As we advance our knowledge of migraine and its complicated phenotypic presentation in childhood, we have noted the similarities in overlapping symptoms of children presenting with childhood periodic syndromes. There is often a positive family history of migraine in children that present with periodic syndromes. There is a known transformation of periodic syndromes from childhood into adult migraine with and without aura phenotype. There has been an evolution of our understanding of what was initially referred to as periodic symptoms of childhood and more recently been called childhood periodic syndromes and is now evolving into the terminology of episodic symptoms that are associated with migraine. International classification of headache disorders has been instrumental in the evolution of the classification of headache and children adults. The most recent classification utilizes and replaces the periodic symptom terminology with episodic symptoms that will no longer be limited to just childhood. This article will address the evolution of our understanding of the diagnostic criteria, pathophysiology and management of the episodic syndromes that may be associated with migraine.

Purpose: Grisel's syndrome is a rare entity and usually develops in paediatric patients after otolaryngologic surgery or infection. It is defined as a fixed torticollis combined with a rotatory atlanto-axial subluxation. The success rate of physiotherapy is low. Conventional therapy concepts imply stage-related recommendations based on the Fielding classification (type I-IV). This classification was introduced in 1977 to assess the degree of subluxation between atlas (C1) and axis (C2). Thus, instability increases from type I to IV. Higher stages may require surgical intervention. The purpose of this study was to evaluate the value of an alternative, less invasive treatment protocol in Grisel's syndrome., Methods: Irrespective of the underlying Fielding type we treated five children (Fielding type I-III) by manual repositioning under general anaesthesia. Consecutively, the cervical spine was immobilized with a Minerva cast for four to eight weeks. Additional surgical treatment or immobilization in a Halo-Fixateur was not necessary., Results: Overall period of treatment was reduced, even in patients with delayed diagnosis. No case of recurrence was observed within a follow-up of six months., Conclusions: Current conventional recommendations suggest invasive treatment with Halo-Fixateur in patients with higher degrees of subluxation (e.g., Fielding type III) or after delayed diagnosis. Even in those patients, this novel therapy concept enables us to achieve excellent clinical results without surgical intervention.