Genomes and Genes
Summary: A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.
- Lee Y, Yoon K, Kim Y, Chung P, Hwang J, Park Y, et al. Clinical features and outcome of physiotherapy in early presenting congenital muscular torticollis with severe fibrosis on ultrasonography: a prospective study. J Pediatr Surg. 2011;46:1526-31 pubmed publisherIt has been reported that ultrasonography (US) can detect the severity of congenital muscular torticollis (CMT), and severe fibrosis of the sternocleidomastoid (SCM) muscle noted on US is irreversible and likely to require surgery...
- Agnew A, Frucht S, Louis E. Supine head tremor: a clinical comparison of essential tremor and spasmodic torticollis patients. J Neurol Neurosurg Psychiatry. 2012;83:179-81 pubmed publisher..In this cross-sectional study of ET and spasmodic torticollis (ST) patients (3:1 matching) who had head tremor while upright, the prevalence of supine (ie, resting) head ..
- Lange O, Bigalke H, Dengler R, Wegner F, deGroot M, Wohlfarth K. Neutralizing antibodies and secondary therapy failure after treatment with botulinum toxin type A: much ado about nothing?. Clin Neuropharmacol. 2009;32:213-8 pubmed publisher..To explore this issue, we evaluated levels of NAbs in a large selected cohort of secondary nonresponders to BoNT-A using the highly sensitive mouse phrenic nerve-hemidiaphragm assay...
- Truong D, Brodsky M, Lew M, Brashear A, Jankovic J, Molho E, et al. Long-term efficacy and safety of botulinum toxin type A (Dysport) in cervical dystonia. Parkinsonism Relat Disord. 2010;16:316-23 pubmed publisher..Efficacy assessments included the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total and subscale scores, visual analogue scale (VAS) for pain, subject/investigator's ..
- Hasegawa J, Tateda M, Hidaka H, Sagai S, Nakanome A, Katagiri K, et al. Retropharyngeal abscess complicated with torticollis: case report and review of the literature. Tohoku J Exp Med. 2007;213:99-104 pubmed..Retropharyngeal abscess causes cervical pain, swelling, contracture of the neck, and in rare cases inflammatory torticollis, all of which result from an inflammatory process that irritates the cervical muscles, nerves or vertebrae...
- Dybdal D, Forcelli P, DUBACH M, Oppedisano M, Holmes A, Malkova L, et al. Topography of dyskinesias and torticollis evoked by inhibition of substantia nigra pars reticulata. Mov Disord. 2013;28:460-8 pubmed publisher..dyskinesias of the contralateral arm and/or leg from central and lateral sites; (2) contralaterally directed torticollis from central and posterior sites; and (3) contraversive quadrupedal rotation from anterior and lateral sites...
- Opavsky R, Hlustik P, Otruba P, Kanovsky P. Somatosensory cortical activation in cervical dystonia and its modulation with botulinum toxin: an fMRI study. Int J Neurosci. 2012;122:45-52 pubmed publisher..The posttreatment somatosensory maps of patients did not significantly differ from controls. This study has brought evidence of widespread disruption of somatosensory processing in CD and its modification with BoNT-A therapy. ..
- Pappert E, Germanson T. Botulinum toxin type B vs. type A in toxin-naïve patients with cervical dystonia: Randomized, double-blind, noninferiority trial. Mov Disord. 2008;23:510-7 pubmed..The primary measure was the change in Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) from baseline to week 4 post-injection...
- Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord. 2007;13:411-6 pubmed..Less than half (42.7%) of those who reported either diagnosis were receiving treatment. CD is potentially under-diagnosed and under-treated; approaches to increase awareness of CD and its treatments are needed. ..
- Blood A, Kuster J, Woodman S, Kirlic N, Makhlouf M, Multhaupt Buell T, et al. Evidence for altered basal ganglia-brainstem connections in cervical dystonia. PLoS ONE. 2012;7:e31654 pubmed publisher..These findings support the hypothesis that connections between the basal ganglia and brainstem play a role in the pathophysiology of dystonia. ..
- Opavsky R, Hlustik P, Otruba P, Kanovsky P. Sensorimotor network in cervical dystonia and the effect of botulinum toxin treatment: a functional MRI study. J Neurol Sci. 2011;306:71-5 pubmed publisher..The study also supports observations that BoNT-A effect has a correlate at central nervous system level, and such effect may not be limited to cortical and subcortical representations of the treated muscles. ..
- Obermann M, Yaldizli O, de Greiff A, Lachenmayer M, Buhl A, Tumczak F, et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord. 2007;22:1117-23 pubmed..They also demonstrate structural similarities of the investigated focal dystonias, possibly reflecting a shared common pathophysiological origin. ..
- Pantano P, Totaro P, Fabbrini G, Raz E, Contessa G, Tona F, et al. A transverse and longitudinal MR imaging voxel-based morphometry study in patients with primary cervical dystonia. AJNR Am J Neuroradiol. 2011;32:81-4 pubmed publisher..The findings obtained at entry and after a 5-year follow-up consistently showed decreased caudate, putamen, and sensorimotor cortex GM volumes in patients with CD, and they probably play a pathophysiologic role in CD. ..
- Atassi M, Jankovic J, Steward L, Aoki K, Dolimbek B. Molecular immune recognition of botulinum neurotoxin B. The light chain regions that bind human blocking antibodies from toxin-treated cervical dystonia patients. Antigenic structure of the entire BoNT/B molecule. Immunobiology. 2012;217:17-27 pubmed publisher..With the previous localization of the antigenic regions on the BoNT/B H chain, the human Ab recognition of the entire BoNT/B molecule is presented and compared to the recognition of BoNT/A by human blocking Abs. ..
- Brin M, Comella C, Jankovic J, Lai F, Naumann M. Long-term treatment with botulinum toxin type A in cervical dystonia has low immunogenicity by mouse protection assay. Mov Disord. 2008;23:1353-60 pubmed publisher..The current formulation of BoNTA rarely causes neutralizing antibody formation in CD subjects treated < or =4 years. ..
- Rogers G, Oh A, Mulliken J. The role of congenital muscular torticollis in the development of deformational plagiocephaly. Plast Reconstr Surg. 2009;123:643-52 pubmed publisher..b>Torticollis and sternocleidomastoid imbalance are implicated, but reporting is variable...
- Atassi M, Dolimbek B, Jankovic J, Steward L, Aoki K. Regions of botulinum neurotoxin A light chain recognized by human anti-toxin antibodies from cervical dystonia patients immunoresistant to toxin treatment. The antigenic structure of the active toxin recognized by human antibodies. Immunobiology. 2011;216:782-92 pubmed publisher..Antibodies against these regions could prevent delivery of the L-chain into the neurons by inhibition of the translocation. ..
- Yim S, Lee I, Cho K, Kim J, Lee I, Park M. The laryngeal cough reflex in congenital muscular torticollis: is it a new finding?. Am J Phys Med Rehabil. 2010;89:147-52 pubmed publisherCinical experience has shown us that some infants with congenital muscular torticollis have a cough reflex while stretching the sternocleidomastoid muscle...
- Stacy M. Epidemiology, clinical presentation, and diagnosis of cervical dystonia. Neurol Clin. 2008;26 Suppl 1:23-42 pubmed
- de Vries P, de Jong B, Bohning D, Hinson V, George M, Leenders K. Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI. Clin Neurol Neurosurg. 2012;114:914-21 pubmed publisher..The fact that a similar but weaker TMS effect occurred in CD could suggest that the capacity of compensation is reduced. Particularly for the right angular gyrus, this reduction was statistically significant. ..
- Anastasopoulos D, Ziavra N, Pearce R, Bronstein A. Trunk bradykinesia and foveation delays during whole-body turns in spasmodic torticollis. J Neurol. 2013;260:2057-65 pubmed publisherWe have investigated how the abnormal head posture and motility in spasmodic torticollis interferes with ecological movements such as combined eye-to-foot whole-body reorientations to visual targets...
- Patwardhan S, Shyam A, Sancheti P, Arora P, Nagda T, Naik P. Adult presentation of congenital muscular torticollis: a series of 12 patients treated with a bipolar release of sternocleidomastoid and Z-lengthening. J Bone Joint Surg Br. 2011;93:828-32 pubmed publisherAdult presentation of neglected congenital muscular torticollis is rare. We report 12 patients with this condition who underwent a modified Ferkel's release comprising a bipolar release of sternocleidomastoid with Z-lengthening...
- Comella C, Jankovic J, Truong D, Hanschmann A, Grafe S. Efficacy and safety of incobotulinumtoxinA (NT 201, XEOMIN®, botulinum neurotoxin type A, without accessory proteins) in patients with cervical dystonia. J Neurol Sci. 2011;308:103-9 pubmed publisher..The primary outcome measure was change from baseline to Week 4 on the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) Total score. Adverse events (AEs) also were evaluated...
- Comella C. The treatment of cervical dystonia with botulinum toxins. J Neural Transm (Vienna). 2008;115:579-83 pubmed..However, it is likely that each brand and serotype may differ in immunogenic potential and occurrence of secondary unresponsiveness, an issue that is currently under active investigation. ..
- Swope D, Barbano R. Treatment recommendations and practical applications of botulinum toxin treatment of cervical dystonia. Neurol Clin. 2008;26 Suppl 1:54-65 pubmed..As a deeper understanding of disease pathophysiology and disease progression is gained, treatment efforts will be refined for optimal outcome and patient satisfaction. ..
- Scontrini A, Conte A, Fabbrini G, Colosimo C, Di Stasio F, Ferrazzano G, et al. Somatosensory temporal discrimination tested in patients receiving botulinum toxin injection for cervical dystonia. Mov Disord. 2011;26:742-6 pubmed publisher..The lack of BTX-induced effects on STD thresholds suggests that STD recruits neural structures uninvolved in muscle spindle afferent activation. ..
- Kägi G, Schwingenschuh P, Bhatia K. Arm swing is reduced in idiopathic cervical dystonia. Mov Disord. 2008;23:1784-7 pubmed publisher..05). Women with AOPCD had more often reduced arm swing compared with men (P = 0.002). Reduced arm swing is common in AOPCD. It may indicate segmental spread of subtle motor dysfunction or it may be a feature of dystonia per se. ..
- Benecke R. Xeomin in the treatment of cervical dystonia. Eur J Neurol. 2009;16 Suppl 2:6-10 pubmed publisher..The treatment was well tolerated and no patient has developed neutralizing antibodies as measured using the sensitive mouse hemidiaphragma assay within these first 2 years. ..
- Skogseid I, Malt U, Røislien J, Kerty E. Determinants and status of quality of life after long-term botulinum toxin therapy for cervical dystonia. Eur J Neurol. 2007;14:1129-37 pubmed..We used combined patient-and physician-based measures to assess both CD severity [Toronto Western Spasmodic Torticollis Rating Scale, (TWSTRS)] and effect of long-term BTX treatment, and the Hospital Anxiety and Depression Scale (..
- Singh V, Singh P, Balakrishnan S, Leitao J. Traumatic bilateral atlantoaxial rotatory subluxation mimicking as torticollis in an adult female. J Clin Neurosci. 2009;16:721-2 pubmed publisher..a 25-year-old female who presented to the Casualty Department with a painful neck, right-sided hemiparesis and torticollis after a road traffic collision...
- Atassi M, Dolimbek B, Jankovic J, Steward L, Aoki K. Molecular recognition of botulinum neurotoxin B heavy chain by human antibodies from cervical dystonia patients that develop immunoresistance to toxin treatment. Mol Immunol. 2008;45:3878-88 pubmed publisher..These regions afford candidates for epitope-specific manipulation of anti-toxin immune responses. ..
- Sun K, Lu Y, Hu G, Luo C, Hou L, Chen J, et al. Microvascular decompression of the accessory nerve for treatment of spasmodic torticollis: early results in 12 cases. Acta Neurochir (Wien). 2009;151:1251-7 pubmed publisherTo describe the early effectiveness of microvascular decompression (MVD) for the treatment of spasmodic torticollis (ST)...
- Queiroz M, Chien H, Sekeff Sallem F, Barbosa E. Physical therapy program for cervical dystonia: a study of 20 cases. Funct Neurol. 2012;27:187-92 pubmed..Both groups were assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the 36-Item Short-Form Health Survey (SF-36)...
- Molho E, Agarwal N, Regan K, Higgins D, Factor S. Effect of cervical dystonia on employment: A retrospective analysis of the ability of treatment to restore premorbid employment status. Mov Disord. 2009;24:1384-7 pubmed publisher..9 vs. 0.0%). These findings suggest that employment status is frequently affected by CD, particularly in patients withneck pain. BTx is significantly more effective than oral medications in restoring premorbid employment status. ..
- Extremera V, Alvarez Coca J, Rodríguez G, Pérez J, de Villanueva J, Díaz C. Torticollis is a usual symptom in posterior fossa tumors. Eur J Pediatr. 2008;167:249-50 pubmed
- Fiorio M, Tinazzi M, Ionta S, Fiaschi A, Moretto G, Edwards M, et al. Mental rotation of body parts and non-corporeal objects in patients with idiopathic cervical dystonia. Neuropsychologia. 2007;45:2346-54 pubmed
- Dolimbek B, Aoki K, Atassi M. Reduction of antibody response against botulinum neurotoxin A by synthetic monomethoxypolyethylene glycol-peptide conjugates. Immunol Lett. 2011;137:46-52 pubmed publisher..Bleeds up to 5 months showed that tolerization can be made to persist for the entire period. The results indicated that the tolerization procedure might be potentially useful for clinical applications to immunoresistant patients. ..
- Walsh R, Whelan R, O Dwyer J, O Riordan S, Hutchinson S, O Laoide R, et al. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients. J Neurol. 2009;256:1307-13 pubmed publisher..Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia. ..
- Stellwagen L, Hubbard E, Chambers C, Jones K. Torticollis, facial asymmetry and plagiocephaly in normal newborns. Arch Dis Child. 2008;93:827-31 pubmed publisherTo evaluate the incidence and characteristics of torticollis, plagiocephaly and facial asymmetry in normal newborn infants.
- de Vries P, Johnson K, de Jong B, Gieteling E, Bohning D, George M, et al. Changed patterns of cerebral activation related to clinically normal hand movement in cervical dystonia. Clin Neurol Neurosurg. 2008;110:120-8 pubmed..The latter may imply an increased vulnerability for deteriorating triggers such as minor accidents. ..
- Slawek J, Friedman A, Potulska A, Krystkowiak P, Gervais C, Banach M, et al. Factors affecting the health-related quality of life of patients with cervical dystonia and the impact of botulinum toxin type A injections. Funct Neurol. 2007;22:95-100 pubmed..Both before and 4 weeks after injection of BTX-A the patients were assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), a Visual Analogue Scale for pain (VAS: 0-100%), the Short Form 36 health survey ..
- Dale R, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol. 2012;54:958-60 pubmed publisher..The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine...
- Lew M, Chinnapongse R, Zhang Y, Corliss M. RimabotulinumtoxinB effects on pain associated with cervical dystonia: results of placebo and comparator-controlled studies. Int J Neurosci. 2010;120:298-300 pubmed publisherResponse rate (RR) and mean improvement (MI) in the pain subscale of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-PS) from two placebo-controlled studies and one comparator-controlled study were evaluated to examine the ..
- Cano S, Warner T, Linacre J, Bhatia K, Thompson A, Fitzpatrick R, et al. Capturing the true burden of dystonia on patients: the Cervical Dystonia Impact Profile (CDIP-58). Neurology. 2004;63:1629-33 pubmed..Items demonstrated stable calibrations in subgroups of people with CD supporting the stability of the CDIP-58. The CDIP-58 is a reliable and valid patient-based rating scale measuring the health impact of CD in eight health dimensions. ..
- Muller S, Gläser P, Tröger M, Dengler R, Johannes S, Münte T. Disturbed egocentric space representation in cervical dystonia. Mov Disord. 2005;20:58-63 pubmed..No effects were seen in body-independent visual spatial perception. Patients with CD are impaired in body-centered, egocentric spatial perception, but not in body-independent, allocentric spatial perception. ..
- Cakmur R, Donmez B, Uzunel F, Aydin H, Kesken S. Evidence of widespread impairment of motor cortical inhibition in focal dystonia: a transcranial magnetic stimulation study in patients with blepharospasm and cervical dystonia. Adv Neurol. 2004;94:37-44 pubmed
- Dressler D, Munchau A, Bhatia K, Quinn N, Bigalke H. Antibody-induced botulinum toxin therapy failure: can it be overcome by increased botulinum toxin doses?. Eur Neurol. 2002;47:118-21 pubmed
- Cheng J, Metreweli C, Chen T, Tang S. Correlation of ultrasonographic imaging of congenital muscular torticollis with clinical assessment in infants. Ultrasound Med Biol. 2000;26:1237-41 pubmedCongenital muscular torticollis (CMT) is a common problem affecting infants and children. There is a general lack of standard clinical classification or objective assessment methods...
- Ploner C, Stenz U, Fassdorf K, Arnold G. Egocentric and allocentric spatial memory in idiopathic cervical dystonia. Neurology. 2005;64:1733-8 pubmed..Our findings point to the existence of compensatory mechanisms between distinct neural systems supporting egocentric and allocentric spatial representations in ICD. ..
- Lee L, Chang W, Chang C. The finding and evaluation of EMG-guided BOTOX injection in cervical dystonia. Acta Neurol Taiwan. 2004;13:71-6 pubmed