Motor and non-motor subtypes of cervical dystonia.

INTRODUCTION: Cervical dystonia (CD) is a heterogeneous condition. However, while motor subtypes of CD have recently been identified, it is still unknown whether and how non-motor symptoms contribute to CD heterogeneity. In the present cross-sectional study, we aimed to identify clinical CD subtypes on the basis of motor and non-motor symptoms by using a hypothesis-free data-driven approach. METHODS: Fifty-seven patients with CD participated in the study. Patients underwent a clinical evaluation that assessed motor and non-motor features of CD with standardized clinical scales. We investigated five clinical domains, including motor symptoms, psychiatric disturbances, sleep disorders, cognitive impairment and pain. These domains were used as variables in a k-means cluster analysis with two-, three-, and four-cluster solutions. RESULTS: The two-cluster solution best fits our sample. Cluster I (n = 32) included patients who were younger and had less severe non-motor symptoms and a lower disability level than patients included in Cluster II (n = 25). The two clusters showed similar sex distribution and disease duration. Similarly, the type of motor pattern and the occurrence of tremor and sensory trick were equally distributed in the two subtypes. CONCLUSIONS: We identified two clinical subtypes of CD. The two subtypes shared similar motor features but were characterized by different non-motor symptom severity. These findings suggest that motor network dysfunction is a common pathophysiological feature of CD, whereas the extent of non-motor network involvement may differ in CD, with age acting as a possible modulating factor.

Experiences of Parents of Infants Diagnosed With Mild or Severe Grades of Congenital Muscular Torticollis.

PURPOSE: The primary purpose of this study was to describe the experiences of parents of infants diagnosed with congenital muscular torticollis (CMT). A secondary purpose was to compare the experiences of parents of infants with mild grades versus severe grades of involvement based on the CMT severity classification system. METHODS: Through semistructured interviews, a qualitative phenomenological approach of inquiry was used to investigate the lived experiences of 12 parents. RESULTS: Eight themes common to both groups of parents were identified. Findings indicated having an infant with CMT has a significant effect on the parents and other caregivers. Two themes were unique to parents of the infants with severe CMT. CONCLUSIONS: Parents are faced with a diagnosis that requires regular therapy visits and a challenging home program. A multimodal approach by clinicians for teaching and supporting parents during the episode of care may best address their unique challenges and stresses.

Frequency of different subtypes of cervical dystonia: a prospective multicenter study according to Col-Cap concept.

Patients with cervical dystonia (CD) may present with head and/or neck movements in the coronal, sagittal or transverse plane. According to the Col-Cap concept, CD postures are classified in torti-, latero-, ante- and retrocollis/caput patterns. The frequency of these different subtypes has to be evaluated. Between January and June 2019, we examined 306 patients (55.5 ± 13.1 years, 67% female) with CD according to the Col-Cap concept. They were all treated with botulinum toxin. This prospective study took place in seven different movement disorder centers. The most common primary form was torticaput (49%), the second most common was laterocaput (16.7%). All other subtypes were less than 10% of the study population. Pure forms were observed in 16.3% of patients only. Torticaput was combined in 46% with laterocaput, and in 20.7% with retrocaput. Laterocaput was combined mainly with torticaput (45.1%), laterocollis (33.2%) or retrocaput (23.5%). Shift forms were found in 14.7%, but diagnosed only in 3.9%. On average, the patients had 2.51 (± SD 1.09) subtypes each. Tremor was observed in 55.6%. The mean number of injected muscles was 4.4 (SD 1.6). The most often injected muscles were splenius capitis (83%), sternocleidomatoideus (79.1%), and upper trapezius (58.5%). This is the first multicenter study to examine the frequency of different subtypes of CD according to the Col-Cap concept. The caput subforms are more common than the cervical types, with torticaput as the most common one. Shift forms were diagnosed less often than described. Pure forms are very rare, combinations of 2-6 subtypes are common (83.7%). Sternocleidomatoideus, splenius capitis and trapezius muscles were still injected most often, but the muscles rarely injected in the past such as levator scapulae (48.7%), obliquus capitis inferior (35.3%) and longissimus (16.7%) were considered quite often. Since optimal therapy results depend on the injection of the right muscles, the correct classification should optimize the treatment outcome.

Interrater and Intrarater Reliability of the Congenital Muscular Torticollis Severity Classification System.

PURPOSE: To establish inter- and intrarater reliability for determining severity grades of the congenital muscular torticollis severity classification system (CMT-SCS). METHODS: A prospective reliability study with 145 physical therapists recorded severity ratings on 24 randomly-ordered patient cases including age of infant, cervical range of motion, and presence or absence of sternocleidomastoid mass. To compute intrarater reliability, cases were randomly reordered and graded by 82 of the original raters. RESULTS: For the CMT-SCS, overall reliability was good with an interrater reliability intraclass correlation coefficient (ICC) (2,1) of 0.83 (95% confidence interval [CI], 0.74-0.91) and an intrarater reliability ICC (3,1) of 0.81 (95% CI, 0.66-0.91). CONCLUSIONS: The CMT-SCS has good reliability for infants up to 12 months of age. Physical therapists can use the scale for initial assessment of infants suspected to have CMT. The CMT-SCS should be standard documentation for infants with CMT.

Clinical and demographic characteristics related to onset site and spread of cervical dystonia.

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.

Collum-caput (COL-CAP) concept for conceptual anterocollis, anterocaput, and forward sagittal shift.

OBJECTIVES: Anterocollis as a rare subtype of cervical dystonia is difficult to treat and thus less appreciated than other subtypes of cervical dystonia. This review aimed at summarising and discussing recent advances in the management of anterocollis. METHODS: Literature review. RESULTS: Pure anterocollis is a rare condition but 1-24% of the cases of complex cervical dystonia present with an anterocollis component. Applying the collum-caput concept, anterocollis may be subdivided into conceptual anterocollis, anterocaput, and forward sagittal shift, which is useful to direct selection of dystonic muscles for treatment. Additionally, identification of dystonic muscles in conceptual anterocollis, anterocaput, or forward sagittal shift is achieved by electromyography, computed tomography, magnetic resonance imaging, or FDG-positron emission tomography. Treatment of choice is botulinum toxin A. In case of treatment failure, more rarely affected muscles need to be identified and injected. Deep muscles, as are frequently involved in conceptual anterocollis, anterocaput, and forward sagittal shift, should be injected only under guidance of electromyography, endoscopy, or imaging. The more accurately affected muscles are identified, the better the outcome. CONCLUSIONS: Anterocollis as a subtype of cervical dystonia, responds poorly to botulinum toxin but management of this condition can be improved by application of identifying and guiding technologies.

Early rehabilitation treatment in newborns with congenital muscular torticollis.

BACKGROUND: Congenital Muscular Torticollis (CMT) is the most common form of torticollis in infants; on clinical presentation it is classified into 3 types: 1) postural torticollis, with postural deformity only in the neck; 2) muscular torticollis, where neck deformity is associated with muscle tightness and restricted passive range of motion (ROM); and 3) sternomastoid tumor or pseudotumor, with a fibrotic, sternocleido-mastoid muscle mass and passive ROM limitations. AIM: The aim of this study was to evaluate the physical therapy outcome of infants with CMT treated either by parents using a home exercise program, or by a physical therapist. DESIGN: Longitudinal study. SETTING: Outpatients with CMT at our Department of Physical Medicine and Rehabilitation. POPULATION: Fifty consecutive newborns with CMT, referred by the primary pediatrician: METHODS: In our study, 50 infants with CMT were evaluated and treated either by a physical therapist or by parents using a home program. RESULTS: Sixteen females (32%) and 34 males (68%), aged 10.2 weeks (SD 6.66); 23 of the infants (46%) presented with more severe articular limitations than the others (P=0.002) and were therefore prescribed outpatient treatment by a physical therapist; the remaining 27 less severe cases (54%) were prescribed a home therapy program. 49 infants achieved full resolution after an average of 81.06 days (SD 64.05) of rehabilitation treatment. The group of patients who were treated at home achieved resolution more quickly (72.8 vs. 91.1 days), although statistical significance was not reached. CONCLUSIONS: Infants with CMT who were treated early, either at home or in the outpatient clinic, completely recovered normal neck movement in a short time. It is important not to discharge patients until they have achieved full resolution of CMT symptoms to exclude the minimal risk of relapse. CLINICAL REHABILITATION IMPACT: This study demonstrates the importance of early treatment in cases of congenital muscular torticollis.

Anterocollis and anterocaput.

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.

Anterior and posterior sagittal shift in cervical dystonia: a clinical and electromyographic study, including a new EMG approach of the longus colli muscle.

Anterior and posterior sagittal shift of the head are less common postures in cervical dystonia and, as such, have not been comprehensively studied. In this article, we have detailed both our clinical and electromyography (EMG) findings in 11 patients with prominent dystonic sagittal shift of the head. A new technique of injection of the longus colli, based on a laterocervical approach under EMG guidance, is described. We have detailed the clinical phenotypes of dystonic posterior sagittal shift or "double chin" posture (4 patients) and anterior sagittal shift or "goose neck" posture (7 patients) and proposed specific botulinum toxin (BoNT) treatment protocols for these postures. Seven patients with the goose-neck posture responded well (70%-90% benefit) to BoNT injections. Six patients responded to splenius capitii injections alone, and 1 patient needed, in addition, the injection into both sterno-cleido-mastoid muscles. Four patients with the double-chin posture responded well to BoNT injection (50%-80% benefit). Two patients responded to suprahyoid injection alone, and 2 patients needed, in addition, the injection into the sterno-cleido-mastoid and longus colli muscles. Dysphagia was avoided in all of the double-chin patient group by adjusting our injection technique into the suprahyoid and longus colli muscles. The individualised toxin BoNT protocols have resulted in an improved benefit. The new Longus colli injection technique has allowed for a therapeutic effect of botulinum toxin without causing dysphagia.

Neuroleptic-induced tardive cervical dystonia: clinical series of 20 patients.

BACKGROUND: Cervical dystonia (CD) may be classified according to the underlying cause into primary or secondary CD. Previous exposure to neuroleptics is one of the main causes of adult-onset secondary dystonia. There are few reports that characterize the clinical features of primary CD and secondary neuroleptic-induced CD. Herein our aim was to investigate a series of patients with neuroleptic induced tardive CD and to describe their clinical and demographic features. PATIENTS AND METHODS: We retrospectively evaluated 20 patients with neuroleptic-induced tardive CD and compared clinical, demographic and therapeutic characteristics to another 77 patients with primary CD. All patients underwent Botulinum toxin type-A therapy. RESULTS: We did not identify any relevant clinical and demographic characteristics in our group of patients that could be used to distinguish tardive and primary CD. CONCLUSION: Patients with tardive CD presented demographic characteristics and disease course similar to those with primary CD.

Retrocollis: classification, clinical phenotype, treatment outcomes and risk factors.

Retrocollis (RC) is a form of cervical dystonia (CD) that produces patterned, repetitive muscle contractions that result in neck extension. We performed a review of consecutive CD patients seen in our Division over a 15-year period. Out of 399 CD patients, 59 (14.8%) had features of RC. Pain was very frequently reported among patients ( approximately 80%). RC was frequently associated with neuroleptic exposure (20.3%) and a history of head/neck trauma (23.7%). Of patients injected with botulinum toxin type A, 24.5% reported excellent, 32.1% moderate, 16.9% mild and 24.5% no response to injections. Oral antidystonic medications had limited contribution to symptom relief.

[Torticollis in a group of strabismic patients in Cameroon]. / Le torticolis dans une population de strabiques camerounais.

PURPOSE: Our aim was to study the characteristics of torticollis in a group of strabismic patients in Cameroon. PATIENTS AND METHODS: This was a prospective study carried out in the ophthalmology service of the General Hospital, Douala from January 1991 to December 2004. All strabismic patients followed up in our service were included in this study and they all had a complete strabologic and ophthalmological examination. Torticollis was analysed using photographs and classified according to its configuration, degree and variability. RESULTS: We examined 379 strabismic patients of which 227 were divergent (59.9%) and 152 convergent (40.1%). We found 166 cases of torticollis (43.8%). This pathology was found in 52.6% of patients with esotropia versus 37.9% in exotropia. Torticollis was classified as severe in 14.5% of patients, moderate in 45.8% and mild in 39.7%. Two out of three early esotropias had alternating torticollis. In congenital monophthalmus syndrome, torticollis was found in 68.4% of cases and in 100% of cases with the alphabetic syndrome. Moreover 63.8% of strabismics with torticollis have astigmatism. CONCLUSION: Torticollis in strabismic patients is a cause for concern as it is frequent and its functional consequences are severe.

Quantifying positional plagiocephaly: reliability and validity of anthropometric measurements.

The treatment of positional plagiocephaly is controversial. A confounding factor is the lack of a proven clinically viable measure to quantify severity and change in plagiocephaly. The use of anthropometric measurements is one proposed method. In this study, the reliability and validity for this method of measurement were investigated. Two clinicians independently recorded caliper measurements of cranial vault asymmetry (CVA) for infants referred for plagiocephaly or torticollis, and an unbiased observer recorded visual analysis scores during the same visit. CVA scores were assigned into three predetermined severity categories (normal CVA < 3 mm, mild/moderate CVA 12 mm). CVA measurements and visual analysis scores were recorded for 71 and 54 infants, respectively. Intrarater reliability was established (kappa = 0.98, kappa = 0.99), but inter-rater reliability was not (kappa = 0.42). In addition, the inter-rater reliability for the severity categories based upon these measures was poor (kappa = 0.28) and failed to correlate to the visual analysis (kappa = 0.31). Development of a stable and meaningful measurement system for the extent of plagiocephaly is needed to allow scientific studies of the natural history of plagiocephaly and effectiveness of interventions.

Congenital muscular torticollis: evaluation and classification.

In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.

Atlantoaxial rotatory fixation: part 3-a prospective study of the clinical manifestation, diagnosis, management, and outcome of children with alantoaxial rotatory fixation.

OBJECTIVE: This is a prospective study of the clinical manifestations, diagnostic motion analysis, management, and outcome of children with atlantoaxial rotatory fixation (AARF). METHODS: Fifty children presenting with painful torticollis were subjected to the three-head positions diagnostic computed tomographic scanning protocol described in Part II of our AARF study. Twenty-nine children qualified as having AARF (8 Type I, 11 Type II, and 10 Type III), and six children were classified in the diagnostic gray zone (DGZ). The AARF patients were given either halter or calipers traction depending on the type and chronicity of pretreatment delay. Upon reduction, patients were immobilized with either a cervicothoracic brace or a halo. Recurrence of AARF on halo and patients whose deformity was not reducible were given posterior C1C2 fusion at the best achievable alignment. The difficulty and results of treatment were measured according to the following: duration of traction, number of reduction slippage, percent not reducible by traction, percent needing halo, percent needing fusion, total duration of treatment, total number of treatment procedures, and percent who lost normal C1C2 dynamics. Results were compared between groups stratified by AARF types, by chronicity of pretreatment delay (acute << 1 mo, subacute = 1-3 mo, chronic > or = 3 mo) and by the presence or absence of recurrence (recurrent AARF defined as having two or more slippages). DGZ patients were treated with only comfort measures for 2 weeks and then restudied. Only those children with persistent symptoms and DGZ or worse motion dynamics were given traction and bracing. RESULTS: Neither age nor etiology significantly influenced the severity of AARF. There was only a slight tendency for children younger than 5 years, and for trauma, to associate with severe C1C2 interlock. Delay of treatment up to 11 months did not result in improvement of the neck restriction or in abatement of pain. In fact, there are strong suggestions that prolonged delay could lead to worsening of the rotatory dynamics: Type I AARF are highly correlated with delays longer than 3 months and Type III with delays less than 1 month. Also, four patients who had serial motion studies during the delay period showed clear worsening in the pathological stickiness in C1C2 rotation. In addition, chronic rotatory deformity led to progressive occiput -C1 separation or laxity teleologically to compensate for a skewed visual axis. The mean occiput -C1 separation angle for chronic patients was 31.2 degrees versus 5 degrees for acute patients and less than 3 degrees for normal children. The difficulty and duration of treatment, the number of reslippage after reduction, the rate of irreducibility, the need for halo and fusion, and the percentile of patients ultimately loosing normal C1C2 rotation were significantly greater with Type I patients than Type III patients, with Type II patients being intermediate. Likewise, chronic patients of all AARF types were much worse in all parameters than acute patients; subacute patients were closer to chronic patients in complexity and outcome. Severity and chronicity exerted independent effects on outcome, and the worse identifiable subgroup were the chronic Type I patients versus the best subgroup of acute Type III patients.Thirteen patients developed recurrent AARF; they had much worse prognosis in all aspects measured than nonrecurrent patients. Recurrence was adversely influenced by both the severity (type) and chronicity of AARF. Half of the DGZ patients resolved with analgesics, but two of six remained symptomatic and in DGZ dynamics, and one deteriorated to Type III AARF. Two of those three patients responded easily to traction and bracing, and one was lost to follow-up. CONCLUSION: Children with painful torticollis should be subjected to the three-position computed tomographic diagnostic protocol, not only to secure the diagnosis of AARF but also to grade the severity of the condition by virtue of the dynamic motion curve. Closed reduction with traction should be instituted immediately to avoid the serious consequences of chronic AARF. Proper typing and reckoning of the pretreatment delay are requisites for selecting treatment modalities. Recurrent dislocation and incomplete reduction should be treated with posterior C1C2 fusion in the best achievable alignment. Open reduction and halo immobilization to avoid permanent fixation can be tried with select cases.

Atlantoaxial rotatory fixation: part 2--new diagnostic paradigm and a new classification based on motion analysis using computed tomographic imaging.

OBJECTIVE: This is Part II of a study on atlantoaxial rotatory fixation (AARF) that aims to introduce a new diagnostic paradigm and a new classification of this condition based on motion analysis of C1C2 rotation using computed tomographic (CT) imaging. This phase of the study is possible because Part I succeeded in defining physiological C1C2 axial rotation with CT data from 21 normal children, displayed in a highly concordant composite motion curve, which is used as the normal template for the present study. AARF is defined as flagrant departure from normal motion dynamics as delineated by abnormal motion curves. The new classification is predicated on the graded amount of pathological stickiness in the restricted rotation. METHODS: Forty children age 1.5 to 14 years with painful "cock-robin" necks resulting from minor trauma or otolaryngological procedures were subjected to 3 CT examinations: 1) in the presenting (P) position; 2) with the nose pointing up (P0 position); and 3) with the head forcefully turned to the opposite side as much as the patient could tolerate (P_ position). The angles made by C1 and C2 and the separation angle C1C2 degrees (C1 minus C2 degrees) were obtained as described in Part I. The test motion curve was generated by plotting C1 against C1C2 angles, and all motion curves were analyzed in the context of the normal template. RESULTS: Five distinct groups with highly characteristic motion curves could be identified. Group 1 (n = 5) patients showed essentially unaltered ("locked") C1C2 coupled configurations regardless of corrective counterrotation, with curves that are horizontal lines in the upper two quadrants of the template. Group 2 (n = 7) patients had reduction of the C1C2 separation angle with forced correction, but C1 could not be made to cross C2. Their curves slope downward from right to left in the upper quadrants but never traverse the x axis. Group 3 (n = 9) patients showed C1C2 crossover, but only when the head was cranked far to the opposite side. Their motion curves traverse the x axis left of C1 = -20 degrees. Groups 1, 2, and 3 motion dynamics are respectively classified as Types I, II, and III AARF in descending degree of pathological stickiness, which is in essence a resistance against closure of the C1C2 angle to counterrotation. Group 4 (n = 14) patients had normal dynamics, and Group 5 (n = 5) patients showed motion curve features between normal and Type III AARF, designated as belonging to the diagnostic gray zone, an uncertain group that may or may not revert to normal dynamics with only comfort measures. CONCLUSION: AARF can be reliably diagnosed with a simple and practical CT protocol and construction of a three-point motion curve superimposed on a reusable normal template. The type of AARF, reflective of the severity of pathological stickiness of rotation, can be identified readily by the shape of the motion curve. This system of classification is useful in selecting the best regimen of management.

Congenital muscular torticollis.

Congenital muscular torticollis is a painless condition usually presenting during infancy with a tight sternocleidomastoid muscle causing the child's head to be tilted to the tightened side. Limited neck motion and a palpable tumor within the muscle are often present. A regimen of stretching exercises is the most common form of treatment with positive outcomes for over 90% of the identified cases. Rarely children require surgical intervention to release the tightened muscle. Botox injections to relax the tight muscle is a new form of treatment being used by some practitioners. Torticollis also presents as a symptom for a variety of muscular, bony, and neurologic conditions, which are briefly reviewed in this article.