Study protocol: multimodal physiotherapy as an add-on treatment to botulinum neurotoxin type A therapy for patients with cervical dystonia: DysPT-multi-a prospective, multicentre, single-blind, randomized, controlled study.

BACKGROUND: Botulinum neurotoxin (BoNT) is currently the best therapeutic option in the treatment for cervical dystonia (CD). Additional treatments like physiotherapy (PT) may even improve the results of the BoNT injection with type A (BoNT-A), but there are no definite recommendations. In the last few years, some studies showed tendencies for PT as an adjuvant therapy to benefit. However, high-quality studies are required. METHODS: This study is a multicentre, randomized, single-blind, controlled trial to demonstrate the effectiveness of a multimodal PT program compared to a nonspecific cupping therapy, additionally to the BoNT-A therapy. Two hundred participants will be assigned into the multimodal PT plus BoNT intervention arm or the BoNT plus cupping arm using randomization. Primary endpoint is the total Score of Toronto Western Spasmodic Rating Scale (TWSTRS). Secondary endpoints are the mobility of the cervical spine (range of motion, ROM), the TWSTRS subscales, and the quality of life (measured by questionnaires: CDQ-24 and SF-36). Patients will be single-blind assessed every 3 months according to their BoNT injection treatment over a period of 9 months. DISCUSSION: The study aims to determine the effectiveness and therefore potential benefit of an additional multimodal physiotherapy for standardized treatment with BoNT-A in patients with CD, towards the BoNT-therapy alone. This largest randomized controlled trial in this field to date is intended to generate missing evidence for therapy guidelines. TRIAL REGISTRATION: The study was registered in the German Clinical Study Register before the start of the patient recruitment ( DRKS00020411 ; date: 21.01.2020).

Systematic review of the nonsurgical management of atlantoaxial rotatory fixation in childhood.

OBJECTIVE: Atlantoaxial rotatory fixation (AARF) is an acquired fixed abnormality of C1-2 joint rotation associated with torticollis in childhood. If the condition is left uncorrected, patients are at risk for developing C1-2 fusion with permanent limitation in the cervical range of movement, cosmetic deformity, and impact on quality of life. The management of AARF and the modality of nonsurgical treatment are poorly defined in both primary care and specialized care settings, and the optimal strategy is not clear. This systematic review aims to examine the available evidence to answer key questions relating to the nonsurgical management of AARF. METHODS: A systematic review was performed using the following databases: PubMed, MEDLINE, Healthcare Management Information Consortium (HMIC), EMCare, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), British Nursing Index (BNI), and Allied and Complementary Medicine Database (AMED). Search criteria were created and checked independently among the authors. All articles with a radiological diagnosis of AARF and primary outcome data that met the study inclusion criteria were included and analyzed by the authors. RESULTS: Search results did not yield any level I evidence such as a meta-analysis or randomized controlled trial. The initial search yielded 724 articles, 228 of which were screened following application of the core exclusion criteria. A total of 37 studies met the full criteria for inclusion in this review, consisting of 4 prospective studies and 33 retrospective case reviews. No articles directly compared outcomes between modalities of nonsurgical management. Six studies compared the outcome of AARF based on duration of symptoms before initiation of treatment. Comparative analysis of studies was hindered by the wide variety of treatment modalities described and the heterogeneity of outcome data. CONCLUSIONS: The authors did not identify any level I evidence comparing different nonsurgical management approaches for AARF. There were few prospective studies, and most studies were uncontrolled, nonrandomized case series. Favorable outcomes were often reported regardless of treatment methods, with early treatment of AARF tending to yield better outcomes independent of the treatment modality. There is a lack of high-quality data, and further research is required to determine the optimal nonsurgical treatment strategy.

Cervical dystonia incidence and diagnostic delay in a multiethnic population.

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.

Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Evidence-Based Clinical Practice Guideline.

PURPOSE: To systematically review the recent evidence on physical therapy (PT) diagnosis, prognosis, and intervention of congenital muscular torticollis to inform the update to the PT management of congenital muscular torticollis evidence-based clinical practice guideline. METHODS: From 2012 to 2017, 7 databases were searched for studies that informed PT diagnosis, prognosis, or intervention of infants and children with congenital muscular torticollis. Studies were appraised for risk of bias and quality. RESULTS: Twenty studies were included. No studies informed PT diagnosis. Fourteen studies informed prognosis, including factors associated with presence of a sternocleidomastoid lesion, extent of symptom resolution, treatment duration, adherence to intervention, cervical spine outcomes, and motor outcome. Six studies informed intervention including stretching frequency, microcurrent, kinesiology tape, group therapy, and postoperative PT. CONCLUSIONS: New evidence supports that low birth weight, breech presentation, and motor asymmetry are prognostic factors associated with longer treatment duration. Higher-level evidence is emerging for microcurrent intervention.

A randomized, single-blinded pilot study evaluating the effects of kinesiology taping and the tape application techniques in addition to therapeutic exercises in the treatment of congenital muscular torticollis.

OBJECTIVE: To investigate the effects of kinesiology taping and different types of application techniques of kinesiology taping in addition to therapeutic exercises in the treatment of congenital muscular torticollis. DESIGN: Prospective, single blind, randomized controlled trial. SETTING: An outpatient rehabilitation clinic in a tertiary university hospital. SUBJECTS: Infants with congenital muscular torticollis aged 3-12 months. INTERVENTIONS: Group 1 included 11 infants who only received exercises, Group 2 included 12 infants who received kinesiology taping applied on the affected side by using inhibition technique in addition to exercises. Group 3 included 10 infants who additionally received kinesiology taping applied on the unaffected side by using facilitation technique and on the affected side by using inhibition technique. MAIN MEASURES: Range of motion in lateral flexion and rotation of the neck, muscle function and degree of craniofacial changes were assessed at pretreatment, post treatment and, 1 month and 3 months' post treatment. RESULTS: Friedman analysis of within-group changes over time revealed significant differences for all of the outcome variables in all groups except cervical rotation in Group 3 ( P<0.05). No significant differences were found between groups at any of the follow-up time points for any of the outcome variables ( P>0.05). CONCLUSIONS: There is no any additive effect of kinesiology taping to exercises for the treatment of congenital muscular torticollis. Also different techniques of applying kinesiology taping resulted in similar clinical outcomes.

Arthroscopic surgical treatment for neglected congenital muscular torticollis in adults.

BACKGROUND: Congenital muscular torticollis (CMT) is the third most common congenital musculoskeletal anomaly. The efficacy of surgical treatment of neglected CMT after skeletal maturity in adults remains controversial. The aim of this retrospective study was to determine the efficacy of arthroscopic release of the sternocleidomastoid (SCM) muscle for the treatment of neglected CMT in adult cases. METHODS: From April 2008 to July 2013, a total of 20 adult patients (9 men and 11 women) with a mean age of 23.0 years were surgically treated for neglected CMT with local anesthesia. The SCM muscle and clavicle were preoperatively marked. Through an artificial lacuna, an arthroscope and a radiofrequency probe were inserted. The sternal and clavicular attachments were dissected and divided via radiofrequency. Clinical evaluation was assessed using a modified Cheng and Tang score. RESULTS: The operation was successfully completed in all the patients. Follow-up examinations from 12 to 40 months in the 20 patients showed complete muscular release and satisfactory cosmetic appearance with no recurrence. There was no evidence of serious complications. The neck scars were no longer visible after several weeks. According to the modified Cheng and Tang scale, 11 patients displayed an excellent result and 9 patients had a good result. CONCLUSIONS: Arthroscopic release of the SCM muscle with local anesthesia is a simple and effective way to surgically manage neglected CMT without any risk for either damage to the neurovascular structures or leaving visible scars.

Considerations and intervention in congenital muscular torticollis.

PURPOSE OF REVIEW: To present the current literature regarding congenital muscular torticollis (CMT) to promote the most effective and evidence-based intervention. CMT is a musculoskeletal deformity observed at birth or in infancy, characterized by persistent head tilt toward the ipsilateral side with the chin rotated toward the contralateral side. The incidence of torticollis is on the rise and as a result there has been a surge in the literature on the topic, however, until recently, there was little consensus on the treatment approach. RECENT FINDINGS: Research on CMT has gone in several directions. One branch is looking at diagnostics, imaging, and attempting to understand the underlying disease behind torticollis, down to the cellular level. This information may be helpful in the other, more clinical research vein to determine prognosis, establish plan of care, and create guidelines for the treatment of infants with torticollis. SUMMARY: CMT presents as a muscular imbalance. We know from the pediatric and adult literature, whether it is about cerebral palsy or anterior cruciate ligament reconstruction, that muscle imbalances can lead to skeletal changes, postural dysfunction, and impaired movement patterns. These can lead to functional limitations and limitations in participation. CMT, therefore, needs to be addressed. Although this article presents the current evidence and guidelines for treatment, there is still much to be learned regarding disease, optimal intervention, duration of treatment, and timing of follow-up. VIDEO ABSTRACT: http://links.lww.com/MOP/A24.

Immediate effect of scapular repositioning with active cervical rotation in acute spasmodic torticollis.

OBJECTIVES: The aim of this preliminary study was to investigate the immediate effects on pain and pressure pain threshold (PPT) of a scapular repositioning technique in patients with acute spasmodic torticollis. METHODS: A randomized, single blind pilot study was conducted. The subjects were 23 individuals (age 20-40 years) with a clinical diagnosis of spasmodic torticollis. Visual analog scale pain score, cervical active ranges of motion, and PPT were assessed before and after the intervention. The comparison group was treated with only conventional physiotherapy (microwave diathermy, submaximal isometrics, and ergonomic advice). The intervention group was given scapular repositioning with active cervical rotation technique, in addition to conventional physiotherapy treatment. RESULTS: There were significant improvements in intensity of pain (P < .01), cervical rotation to the ipsilateral side (P < .01), cervical side flexion to the contralateral side (P < .01), and PPT (P < .01) immediately after the treatment of the scapular repositioning and conventional therapy compared with the conventional therapy alone. CONCLUSION: The present pilot study demonstrated that scapular repositioning may have an immediate hypoalgesic effect on individuals with spasmodic torticollis in terms of pain severity, PPT, and cervical range of motion. Therefore, further controlled trials are warranted.

[Botulinum toxin therapy for spasmodic torticollis: medical and non-medical adjunct treatment]. / Botulinum-Toxin-Therapie bei Torticollis spasmodicus: Medizinische und nichtmedizinische Begleitbehandlungen.

BACKGROUND: Spasmodic torticollis patients were investigated with respect to the number of adjunct treatments used before and after the introduction of botulinum toxin therapy (Btx). The study was designed in a similar way to an earlier investigation by Birner et al. (Nervenarzt 70:903-908, 1999). MATERIAL AND METHODS: A total of 247 patients with idiopathic spasmodic torticollis were assessed at three time points for the diagnosis: before 1988 (n = 63), between 1989 and 1998 (n = 107) and after 1999 (n = 77). RESULTS: Independent of the year of diagnosis patients underwent a mean of 14.3 different treatments. In addition to Btx most of the patients were subjected to massage, physiotherapy, medication and a large number of non-medical treatments including praying. No associations to clinical or personal variables were found. Those patients with emotional disorders prior to onset of dystonia displayed a higher rate of medical and non-medical treatments in addition to Btx. CONCLUSIONS: The results confirmed those found by Birner et al.. In order to enhance compliance patients should undergo psychoeducation with respect to illness behaviour and specific history taking with respect to emotional disorders prior to dystonia.

"Visual sensory trick" in patient with cervical dystonia.

Sensory tricks are clinical maneuvers that may partially relieve dystonic contractions. Any clinical maneuver that modulates afferent sensory and efferent motor pathways could be used as a sensory trick in patients with cervical dystonia. Although various sensory tricks have been described to reduce cervical dystonia, little is known about the exact mechanisms by which they operate. We report a case of cervical dystonia that was alleviated through the use of a visual-sensory trick. Our findings suggest that visual stimulation might be an effective sensory trick in cervical dystonia by compensating for a defective sensory system, or because visual pathways might be also affected by sensory interactions in cervical dystonia.

[Treatment of spasmodic torticollis by differentiation of symptoms and signs].

Spasmodic torticollis belongs to local dysmyotonia and it is a difficult and complicated disease with unknown pathogenic factor. The clinical effects of medication and operation on it are not satisfactory and there is not a safe and effective therapy for this disease at home and abroad. The authors apply flexibly the theory of treatment based on syndrome differentiation and fully exert the advantages of TCM to analyze the disease from pathogenic factor, disease and syndrome, pathogenesis and so on, and originally create acupuncture at "Wu Xin Xue" for treatment of this disease with Kaiqiao Shunjin method (resuscitation and regulating muscle) as main, clinically attaining satisfactory therapeutic effect.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

New perspectives on dystonia.

Dystonia is a syndrome of sustained muscular contractions with numerous underlying etiologies. This review examines the varied phenomenology of dystonias, its evolving classification including recent genetic data as well as its clinical investigation and treatment. Although age of onset, anatomical distribution and family history are key elements of the investigation of dystonia, classification increasingly relies on etiologic and genetic criteria. Physiological abnormalities in striato-cortical circuits are common in dystonia but the pathophysiology is still unclear. In recent years, a great deal has been learned on the more common primary dystonias such as primary torsion dystonia and on dystonia-plus syndromes such as dopamine responsive dystonia. Treatment of dystonia has also evolved and there are now a number of therapeutic agents with clear beneficial effects including anticholinergics, benzodiazepines, and botulinum toxin and there is growing interest in neurofunctional surgery including deep brain stimulation.

Tortícolis muscular idiopático: estudio de 30 casos en tratamiento rehabilitador / Idiopathic muscular torticollis: study of 30 cases in rehabilitation treatment

Objetivos: Realizar una aproximación diagnóstica de tortícolis en la infancia, describir una pauta de tratamiento cinesiterápico en los casos de tortícolis muscular idiopático (TMI), valorar los factores que influyen en la evolución y señalar el momento más adecuado para la indicación quirúrgica en los casos con evolución desfavorable.Pacientes y Métodos: Se valoran 30 niños diagnosticados de TMI que iniciaron tratamiento cinesiterápico consistente en movilizaciones cefálicas, estiramientos pasivos y estimulación de rotaciones activas mediante estimulación visual y acústica. La media de edad al inicio del tratamiento fue 5,4ñ7,3 meses (rango de 1 a 38 meses). Se realizó evaluación quincenal mediante medición del arco articular cervical y valoración estético-funcional según los criterios de Canale.Resultados: El tiempo medio de duración del tratamiento fueron 71,4ñ22,8 días. Se detectó asociación con otras alteraciones ortopédicas en el 23,3 por ciento de los casos. No se halló relación con la evolución del TMI para las variables sexo, tipo de parto y lateralidad de esternocleidomastoideo afectado. La presencia de asimetría facial se asoció con peor evolución, alcanzando significación estadística (p<0,005). La evolución fue satisfactoria según los criterios de Canale en el 96,6 por ciento de los pacientes y se objetivó mejoría del arco de movilidad cervical pre y postratamiento valorada con prueba de la t para datos apareados (p<0,001).Discusión: Se precisa un diagnóstico diferencial minucioso para la confirmación de TMI. El tratamiento cinesiterápico debe iniciarse de forma precoz, ser intensivo y mantenerse hasta la resolución del TMI en niños menores de un año. Debe realizarse un estrecho seguimiento para detectar las recidivas y valorar la indicación quirúrgica si se asocia a asimetría facial severa, si el diagnóstico se realiza de forma tardía o si la evolución con cinesiterapia es desfavorable después del primer año de edad (AU)

Refractory torticollis after a fall.

Though multiple medical and psychiatric causes of torticollis have been described, cervical dystonias resulting from distant somatic dysfunctions have not. This article describes the treatment of a 62-year-old woman in whom refractory retrotorticollis of surmised pelvic etiology developed after a fall. Structurally, cervical dystonias have been addressed as problems that originate in the head and neck, but this limited view of the musculoskeletal component of torticollis may prevent physicians from directing osteopathic manipulative treatment to the underlying problem.

Click-evoked vestibulocollic reflexes in torticollis.

A total of 26 patients with torticollis were studied using a recently developed technique for recording vestibulocollic reflexes from the sternocleidomastoid muscles in addition to conventional caloric tests of vestibular function. Previous reports of abnormalities of vestibulo-ocular reflexes in these patients were confirmed with just fewer than half having significant canal pareses or directional preponderances (nine of 20 tested). In addition, there was a high incidence of abnormal click-evoked vestibulocollic reflexes (17 of 26 tested), which were not simply the result of prior treatment with botulinum toxin, nor due to unequal levels of muscle activation. In patients never previously treated with botulinum toxin (14 patients), the effect almost always consisted of suppressed responses in the sternocleidomastoid muscle ipsilateral to the direction of head turning. Because responses were not abnormal in all patients tested, and more commonly so in those with a history of torticollis of > or = 5 years (eight of nine patients) than in de novo patients, we suggest that the changes are more likely to be compensatory than causal.

[Spasmus nutans. A re-emergent pathology?]. / Spasmus nutans. Una patologia riemergente?

The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in both patients: scarce exposure to light, early introduction of whole cow's milk, rachitic stigmata, dark skin, poor socio-economic conditions and rapid and complete remission of symptoms following daily exposure to sunlight. It is important to distinguish spasmus nutans, a completely benign and self-restricting disease, from potentially severe conditions which may appear with similar symptoms. It should be expected that this clinical condition will become more frequent in view of the considerable increase in the size of the non-EEC population.

Spinal cord astrocytoma presenting as torticollis and scoliosis.

OBJECTIVE: To illustrate the importance of a careful differential diagnosis in children presenting with torticollis. CLINICAL FEATURES: A 14-yr-old boy presented with a 6-month history of neck pain, torticollis and increasing neurological deficit. Past physiotherapy and chiropractic treatment had not helped. A myelogram and MRI scan revealed a large intramedullary lesion. INTERVENTION AND OUTCOME: He was treated by laminectomy with partial excision of the lesion, followed by radiotherapy. Pathology confirmed the diagnosis of astrocytoma. The patient developed postlaminectomy instability and required spinal fusion. CONCLUSION: The differential diagnosis of torticollis in children is extensive and should always include spinal tumor.

Treatment of spasmodic torticollis with intradural selective rhizotomies.

To determine the effects of ventral cervical and selective spinal accessory nerve rhizotomy on spasmodic torticollis, 58 patients who had undergone surgery between 1979 and 1987 were reviewed retrospectively. At the time of surgery, each nerve rootlet was electrically stimulated to determine its effect on the nuchal musculature prior to sectioning. Forty-nine patients (85%) had a marked improvement in their condition, with 33 (57%) attaining an excellent result and 16 (28%) noting significant improvement. Patients complained of abnormal head posture, nuchal muscle spasms, and pain prior to surgery. Muscle spasms were completely relieved in 42 patients (72%) and markedly reduced in 10 (17%). Of the 47 patients with preoperative pain, 30 (64%) were free of their pain and eight (17%) noted that the pain was reduced in intensity and frequency. Thirty-four patients (59%) reported that their resting head posture was restored to a neutral position. The likelihood that a patient's head posture returned to normal was inversely proportional to the preoperative duration of the spasmodic torticollis. Twenty-six patients (45%) suffered mild transient difficulty with swallowing solid foods in the immediate postoperative period. In most cases these minor difficulties abated in the months following surgery.