Caracterización clínica, radiológica y epidemiológica de niños con secuelas de tortícolis muscular congénita / Clinical, radiological, and epidemiological characterization of children with sequelae of congenital muscular torticollis / Caracterização clínica, radiológica e epidemiológica de crianças com sequelas de torcicolo muscular congênito

RESUMEN Introducción: Las secuelas de la tortícolis muscular congénita en niños tiene un amplio espectro, algunas de las cuales, una vez establecidas pueden requerir complejas y costosas correcciones quirúrgicas. Objetivo: Caracterizar las secuelas de tortícolis muscular congénita según elementos clínicos, radiológicos y epidemiológicos en niños atendidos en Santiago de Cuba en el periodo 2017-2020. Método: Estudio prospectivo-analítico de caso-control en 112 niños con dicha enfermedad, separados en casos (24 niños) y controles (88 niños). El procesamiento de datos implicó análisis de frecuencias, cálculo de Ji-cuadrado, identificación de factores asociados a variable dependiente, cálculo del valor de p y Odds ratio. Resultados: Se obtuvo predominio de población masculina en casos (70,8 %) y controles (68,2 %), con asociación estadística entre edad ≥ 6 meses al momento del diagnóstico y presencia de complicaciones (OR: 2,4-20,4; p=0,00). Existió asociación estadística entre macrosomía al nacer y presencia de complicaciones en 25,0 % de casos y 11,4 % de controles (OR: 1,9-12,5; p=0,02). Hubo asociación estadística entre inicio tardío del tratamiento rehabilitador y complicaciones (OR: 2,86-21,3; p=0,00). Conclusiones: Se observó predominio de complicaciones orgánicas o comorbilidades en varones, siendo más probable el incremento significativo de secuelas en estos y cuando se inicia el tratamiento médico después de los 6 meses de edad. Las complicaciones más frecuentes fueron: asimetría facial, plagiocefalia y asociación de dos o más secuelas.

ABSTRACT Introduction: Sequelae of congenital muscular torticollis in children have a wide spectrum, some of which, set already, may require complex and costly surgical corrections. Objective: To characterize the sequelae of congenital muscular torticollis according to clinical, radiological, and epidemiological elements in children attended in Santiago de Cuba from 2017 to 2020. Method: Prospective-analytical case-control study in 112 children with this disease, separated in cases (24 children) and controls (88 children). Data processing involved frequency analysis, calculation of chi-square, identification of factors associated with dependent variable, calculation of the p-value and OR. Results: The male population predominated in cases (70.8%) and controls (68.2%), with a statistical association between age ≥ 6 months at diagnosis and the presence of complications (OR: 2.4-20.4; p=0.00). There was a statistical association between macrosomia at birth and the presence of complications in 25.0 % of cases and 11.4 % of controls (OR: 1.9-12.5; p=0.02). There was a statistical association between late initiation of rehabilitation treatment and complications (OR: 2.86-21.3; p=0.00). Conclusions: A predominance of organic complications or comorbidities was observed in males, with a significant increase of sequelae in this group and also when medical treatment is started after 6 months of age. The most frequent complications were facial asymmetry, plagiocephaly and association of two or more sequelae.

RESUMO Introdução: As sequelas do torcicolo muscular congênito em crianças têm amplo espectro, algumas das quais, uma vez estabelecidas, podem exigir correções cirúrgicas complexas e onerosas. Objetivo: Caracterizar as sequelas do torcicolo muscular congênito segundo elementos clínicos, radiológicos e epidemiológicos em crianças atendidas em Santiago de Cuba no período 2017-2020. Método: Estudo prospectivo-analítico caso-controle em 112 crianças com essa doença, separadas em casos (24 crianças) e controles (88 crianças). O processamento dos dados envolveu análise de frequência, cálculo do Qui-quadrado, identificação dos fatores associados à variável dependente, cálculo do valor de p e Odss ratio. Resultados: Obteve-se predominância da população masculina nos casos (70,8%) e controles (68,2%), com associação estatística entre idade ≥ 6 meses no momento do diagnóstico e presença de complicações (OR: 2,4-20,4; p=0,00). Houve associação estatística entre macrossomia ao nascimento e presença de complicações em 25,0% dos casos e 11,4% dos controles (OR: 1,9-12,5; p=0,02). Houve associação estatística entre início tardio do tratamento de reabilitação e complicações (OR: 2,86-21,3; p=0,00). Conclusões: Observou-se predominância de complicações orgânicas ou comorbidades no sexo masculino, com aumento significativo de sequelas sendo mais provável nestes e quando o tratamento médico é iniciado após os 6 meses de idade. As complicações mais frequentes foram: assimetria facial, plagiocefalia e associação de duas ou mais sequelas.

End-stage Treatment of a Patient with Progressive Supranuclear Palsy and Severe Retroflexion of the Neck -Improvement in Retroflexion of the Neck by Botulinum Therapy: A Case Report- / 日本プライマリ・ケア連合学会誌

Progressive supranuclear palsy (PSP) comprises psychiatric, neurological and physical complications. In the late stage, most patients with PSP are bed-bound because of motor disability. PSP manifests as predominantly axial abnormality in posture and abnormal muscle tone, resulting in cervical retroflexion and somatic pains. Severe retroflexion of the neck is frequently a cause of repeated aspiration pneumonia that affects survival expectancy. We injected botulinum toxin (BTX) for severe retroflexion using a CT-guided procedure to confirm the anatomical locations of paravertebral muscles and to localize the paravertebral target muscles for a patient with PSP who had repeated pneumonia caused by retroflexion-related dysphagia. BTX injection treatment markedly ameliorated the cervical dystonia and concomitant dysphagia. The patient has recovered and may be able to be discharged to home. There are few reports on the BTX injection technique, but BTX has analgesic effects and induces relaxation of abnormal muscle tension. Therefore, it may be applicable to other movement disorders at the late stage.

Professor ' clinical experience in the treatment of primary cervical dystonia / 中国针灸

Professor ' clinical experience in the treatment of primary cervical dystonia based on the syndrome differentiation of TCM was explored preliminarily. Based on the disease identification of western medicine and the syndrome differentiation of TCM, in combination with the differentiations of meridians and collaterals of acupuncture, Professor proposes the three-dimensional system of diagnosis and treatment of acupuncture, named "disease differentiation, TCM syndrome differentiation and meridian differentiation". Regarding the diagnosis and treatment of primary cervical dystonia, the physical examination of nerve system, TCM syndrome differentiation and meridian differentiation are equally important. It is pointed out that the key pathogenesis of the disease is and blood obstruction and the malnutrition in the muscle regions of meridians. Hence, the treating principle is proposed as eliminating the exogenous pathogens, regulating and blood and unblocking the muscle regions of meridians. Professor also stresses that the affected sites and the factors of dystonia should be considered in acupuncture treatment. The local points are mainly those adjacent to the responsible muscles with the motor disturbance in the neck region. "Xinshe" point (Extra) is taken as the empirical point. The distal points are selected in accordance with the three-dimensional system of diagnosis and treatment. At the same time, the percutaneous acupoint electric stimulation is applied to the starting and ending points or the conjunctive points of the affected muscles, acting on regulating , nourishing blood and promoting the circulation in meridians and collaterals.

Cervical dystonia in Parkinson’s disease: Retrospective study of later-stage clinical features

@#Objective: Cervical dystonia (CD) is a clinically under-recognized symptom occurring at the later- to end-stages of Parkinson’s disease (PD). The frequency of CD and its influence on prognosis have not been well studied. Here, we conducted an in-depth examination of CD incidence and impact on disease progression in later-stage PD. Methods: We retrospectively reviewed the clinical features of 22 deceased patients with sporadic PD treated at a hospital in Japan from 1983 to 2008. Results: The most common cause of death in PD was pneumonia. CD, in particular retrocollis, was frequent in the later stages of the disease in elderly patients (9/22, 40.9%). Pneumonia incidence increased sharply in the later period with CD. There was a positive trend between CD duration and duration of pergolide use. Conclusion: Analysis revealed that CD increases markedly in late- to end-stage PD, which may be associated with aspiration pneumonia due to dysphagia. Pathological mechanisms underlying CD might be influenced by treatments including dopamine agonists. Prevention of CD may increase quality of life and prolong survival of PD patients.

Distonia cervical, toxina botulinica [neuronox®] y disfagia: a propósito de un caso / Cervical dystonia, botulinum toxin [neuronox®] and dysphagia: a case report

La distonía cervical es la forma más común de distonía focal. La aplicación de toxina botulínica a través de la quimiodenervación produce parálisis muscular temporal y de forma reversible. Se presenta un caso clínico relacionado con la distonía cervical la aplicación terapéutica de toxina botulínica y la producción de disfagia secundariamente.

Cervical dystonia is the most common form of focal dystonia. The application of botulinum toxin through chemodenervation produces temporary muscular paralysis and reversibly. A case associated with cervical dystonia therapeutic application of botulinum toxin and dysphagia secondary production is presented.

Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia / Avaliação genética para TOR1-A (DYT1) em pacientes brasileiros com distonia

Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia. .

Tem sido mapeada uma série de genes em pacientes com distonia. O gene TOR1-A (DYT1) foi associado a casos de distonia primária. Objetivo Associar os achados clínicos dos pacientes com distonia com mutações em TOR1-A. Método Foram selecionados 88 pacientes com distonia na região cervical (focal, segmentar, multifocal e generalizada) no Setor de Distúrbios do Movimento do Hospital de Clínicas da Universidade Federal do Paraná entre junho de 2008 e junho de 2009. Esses pacientes foram submetidos à avaliação clínica. O DNA foi extraído do sangue periférico e submetido à análise para mutações em TOR1-A através de protocolos padronizados. Resultados A mutação c.907GAGdel foi encontrada em duas pacientes. Ambas tinham história familiar de distonia e iniciaram seus sintomas pelos membros inferiores, evoluindo com generalização. Conclusão Podemos sugerir que a análise para mutações em TOR1-A deve ser realizada em pacientes com distonia de inicio precoce, história familiar e generalização. .

Evolution of the concept of dystonia / Evolução do conceito de distonia

The term dystonia was proposed by Hermann Oppenheim in 1911, but reports of cervical dystonia are finding since the Roman Empire. The differentiation of the dystonia between a neurological and a psychiatric disease turned a lot. Sometimes was proposed, further, the exclusion of the dystonia as a different phenomenon among the movement disorders. The hypothesis of emotional etiology of the dystonias increase in the decade of 1960 and the conclusion of the etiology of dystonia only happened in the decades of 1970 and 1980 with a series of works of Charles David Marsden. These researches defined dystonia as a movement disorder caused by lesion in the basal ganglia. In February of 1984, a committee of members of Scientific Advisory Board of the Dystonia Medical Research Foundation developed the definition for dystonia accepts until 2013 when an international committee developed the new concept.

O termo distonia foi proposto por Hermann Oppenheim em 1911, porém, quadros de distonia cervical são encontrados desde a antiguidade. A categorização da distonia entre uma doença neurológica ou psiquiátrica mudou muitas vezes sendo proposta, inclusive, a retirada da distonia como um fenômeno distinto entre os distúrbios do movimento. A etiologia emocional das distonias teve grande força na década de 1960 e o fim da discussão etiológica da distonia somente ocorreu nas décadas de 1970 e 1980 com uma série de trabalhos de Charles David Marsden colocando a distonia como um distúrbio do movimento por lesão nos gânglios da base. Em fevereiro de 1984, um comitê formado de membros da Scientific Advisory Board of the Dystonia Medical Research Fundation desenvolveu a definição para distonia aceita até 2013 quando um comitê internacional desenvolveu a definição aceita atualmente.

Cervical dystonia: about familial and sporadic cases in 88 patients / Distonia cervical: consideracoes sobre casos esporadicos e familiares em 88 pacientes

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pacientes com DC no Setor de Distúrbios do Movimento entre julho de 2008 e junho de 2009. Somente os pacientes sem diagnóstico etiológico foram admitidos para análise. A idade de início dos sintomas foi mais tardia em pacientes com distonia focal e segmentar do que em pacientes com distonia generalizada (p<0,001). A gravidade dos sintomas foi maior em pacientes com distonia focal esporádicos do que naqueles com história familiar (p<0,01). Os casos generalizados foram mais graves nos pacientes com história familiar (p<0,01). Pacientes esporádicos tiveram níveis maiores de dor em relação aos casos familiares (p<0,05). Esperamos apresentar em breve resultados de análises genéticas desses pacientes.

Estimulación cerebral profunda bilateral para distonía cervical refractaria en el Hospital Universitario de San Ignacio de Bogotá, Colombia / Bilateral Deep Brain Stimulation for Refractory Cervical Dystonia. Hospital Universitario de San Ignacio in Bogotá, Colombia: A Case Report

La estimulación cerebral profunda (ECP) es una alternativa de manejo para los pacientescon distonía cervical, un síndrome de etiología múltiple, de presentación variada eincapacitante y refractario al manejo médico, que incluye la toxina botulínica. El artículopresenta el caso de una mujer de 56 años de edad con distonía cervical manifiesta conretrócolis e hiperextensión de columna dorsal, de cuatro años de evolución, consideradarefractaria al tratamiento y con indicación de ECP...

Deep brain stimulation (DBS) is a management alternative for patients with cervicaldystonia, syndrome of multiple etiology, presentation varied, disabling and refractoryto medical management, including botulinum toxin. A case of a 56 year old woman withcervical dystonia manifested by retrocollis and hyperextension dorsal spine of 4 yearsof evolution, considered resistant to treatment that is an indication of DBS is presented...

Threshold of Clinical Severity of Cervical Dystonia for Positive 18F-FDG PET/CT

OBJECTIVE: To examine whether the clinical severity of cervical dystonia (CD) significantly correlates with 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) findings as well as to determine the threshold of the clinical severity of CD for positive 18F-FDG PET/CT study findings. METHODS: Forty-seven subjects with torticollis as one of the symptoms of CD were included. The clinical severity of CD was evaluated with the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) at the time of 18F-FDG PET/CT. The correlation between the clinical severity of CD and the highest SUVmax was examined. The threshold of the clinical severity of CD necessary for positive 18F-FDG PET/CT findings was determined using receiver operating characteristics curve analysis. RESULTS: Thirty-three of the 47 subjects (70.21%) showed positive 18F-FDG PET/CT findings. The ipsilateral splenius capitis/cervicis, oblique capitis inferior, and longus colli/capitis were the rotators most frequently involved. The highest SUVmax of 18F-FDG PET/CT was significant correlated with the TWSTRS. Subjects with a total TWSTRS exceeding 39 showed positive 18F-FDG PET/CT findings, with those having a total TWSTRS < or =22 showing negative 18F-FDG PET/CT results. The cutoff value of the total TWSTRS for positive 18F-FDG PET/CT findings was set at 27.5 with 90.9% sensitivity and 64.3% specificity. CONCLUSION: A significant correlation was evident between the clinical severity of CD and 18F-FDG PET/CT findings, providing a threshold of the clinical severity of CD for acquisition of positive 18F-FDG PET/CT findings.

Usefulness of 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Management of Cervical Dystonia

OBJECTIVE: To evaluate the usefulness of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in the management of cervical dystonia (CD) with botulinum toxin type A (BoNT-A) injection. METHOD: Thirty two subjects with CD were included. A BoNT-A injection was provided either by clinically targeting method (group 1) or by 18F-FDG PET/CT-assisted, clinically targeting method (group 2). In group 2, selection of target muscles and dosage of BoNT-A were determined according to the increased 18F-FDG uptake, in addition to physical examination and functional anatomy. The outcomes of BoNT-A injection was compared between the two groups, in terms of the number of subjects who had reinjection before and after 6 months, the number of reinjections, the interval of reinjections, the duration to the minimal Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), the number of adverse events, the reduction rate of TWSTRS at 1-3 months and 3-6 months after injection, and the probability of reinjection-free living. RESULTS: The number of subjects who had reinjection within 6 months was significantly lower in group 2 than in group 1 (10 in group 1 vs. 3 in group 2). The reduction rate of TWSTRS after 3-6 months (37.8+/-15.7% of group 1 vs. 63.3+/-28.0% of group 2) and the probability of reinjection-free living were significantly higher in group 2 than in group 1. CONCLUSION: These findings suggest that 18F-FDG PET/CT study could be useful in management of CD in terms of the identification of dystonic muscles if there is an increase in the 18F-FDG uptake in the cervical muscle of the images.

Temporomandibular disorders in patients with craniocervical dystonia / Disfunção temporomandibular em pacientes com distonia craniocervical

Temporomandibular disorders are a set of musculoskeletal dysfunctions within the masticatory system, with multiple etiologies. OBJECTIVE: Since craniocervical dystonia can involve the same neuromuscular structure as the temporomandibular joint, we sought to assess the correlation between temporomandibular disorders and craniocervical dystonia. METHOD: We applied the Research Diagnostic Criteria for Temporomandibular Disorders to 42 patients with craniocervical dystonia, in order to identify orofacial pain and temporomandibular characteristics on the day of botulinum toxin injection. RESULTS: Twenty-two patients (52.3 percent) reported temporomandibular joint pain; 24 (57.1 percent), joint sounds; 20 (47.6 percent), masticatory muscle pain; and 21 (50 percent), diminished jaw mobility. The patients with oromandibular dystonia presented temporomandibular disorders more frequently than did patients with other types of craniocervical dystonia (p<0.001). CONCLUSION: Temporomandibular disorders occur frequently in patients with oromandibular dystonia. Further studies should address the proper treatment of temporomandibular disorders associated with dystonia.

As disfunções temporomandibulares são um conjunto de alterações musculoesqueléticas no sistema mastigatório de etiologia multifatorial. OBJETIVO: A distonia craniocervical pode envolver as mesmas estruturas neuromusculares da articulação temporomandibular. Nosso objetivo foi avaliar a correlação entre distúrbios temporomandibulares e distonia craniocervical. MÉTODO: Aplicamos o Critério Diagnóstico para Pesquisa em Disfunção Temporomandibular em 42 pacientes com distonia craniocervical a fim de identificar dor orofacial e características da articulação temporomandibular no dia da injeção de toxina botulínica. RESULTADOS: Vinte e dois pacientes (52,3 por cento) relataram dor na articulação temporomandibular, enquanto 24 apresentaram sons articulares (57,1 por cento), 20 dor na musculatura mastigatória (47,6 por cento) e redução da mobilidade mandibular foi observada em 21 pacientes (50 por cento). Os pacientes com distonia oromandibular apresentaram disfunção temporomandibular em maior frequência do que aqueles com outros tipos de distonia craniocervical (p<0,001). CONCLUSÃO: A disfunção temporomandibular é frequente em pacientes com distonia oromandibular. Novos estudos devem abordar o tratamento adequado das disfunções temporomandibulares associado à distonia.

Quality of life in individuals with cervical dystonia before botulinum toxin injection in a Brazilian tertiary care hospital / Qualidade de vida em indivíduos com distonia cervical antes da aplicação de toxina botulínica em um hospital terciário brasileiro

OBJECTIVE: The purpose of this study was to evaluate quality of life (QoL) in a Brazilian population of individuals with cervical dystonia (CD) without effect of botulinum toxin (BTx) or with only residual effect of BTx, and identify possible physical and social aspects that affect their QoL. METHOD: Sixty five out of sixty seven consecutive patients with CD were assessed with two instruments: Short-form Health Survey with 36 questions (SF-36) and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). RESULTS: Severity of CD (TWSTRS) correlated moderately with two SF-36 subscale: role-physical (r= -0.42) and body pain (r= -0.43). Women also scored worse in two subscale of SF-36: vitality (p<0.05) and mental-health (p<0.005). CONCLUSION: Severity of CD and gender (female) were the main factors related to a worse QoL perception. These findings may help health professionals to predict which characteristics could lead to worse QoL, and therefore, better target their interventions to lessen the burden caused by CD.

OBJETIVO: O objetivo deste estudo foi avaliar a qualidade de vida (QV) em uma população brasileira de indivíduos com distonia cervical (DC), que estavam sem o efeito da toxina botulínica ou com efeito residual da mesma, e identificar os possíveis aspectos físicos e sociais que afetam sua QV. MÉTODO: Sessenta e cinco de sessenta e sete pacientes consecutivos com DC foram avaliados com dois instrumentos: Short-form Health Survey com 36 questões (SF-36) e Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). RESULTADOS: A gravidade da DC (TWSTRS) correlacionou-se moderadamente com duas sub-escalas da SF-36: aspectos físicos (r= -0,42) e dor (r= -0,43). Mulheres apresentaram piores pontuações em duas sub-escalas da SF-36: vitalidade (p<0,05) e saúde mental (p<0,005). CONCLUSÃO: Gravidade da DC e gênero (feminino) foram os principais fatores relacionados à pior percepção de QV. Estes achados podem auxiliar profissionais da saúde a identificarem quais características poderiam levar a uma pior QV, e assim direcionar melhor suas intervenções, atenuando os danos causados pela DC.

Botulinum toxin type A and cervical dystonia: a seven-year follow-up / Toxina botulínica A e distonia cervical: avaliação após sete anos

Most cases of cervical dystonia (CD) are idiopathic, and focal injections of botulinum toxin A (BoNT/A) are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS) at baseline assessment (2001-2002) and follow-up (2008-2009) was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6±6.6 and 17.7±4.8; p<0.05). There was no improvement in the severity of cervical pain (p=0.43). In conclusion, BoNT/A was a safe and effective long-term therapy for CD.

A maioria dos casos de distonia cervical (DC) são idiopáticos; injeções locais com toxina botulínica A (BoNT/A) são o tratamento de escolha. O objetivo de nosso estudo foi documentar os efeitos do tratamento a longo prazo da BoNT/A em pacientes com DC idiopática. Foram selecionados 58 pacientes com DC idiopática de março de 2001 a maio de 2002. Desses pacientes, 28 estavam disponíveis para re-avaliação após sete anos. Durante esse período, todos foram submetidos a tratamento regular com injeções de BoNT/A. As informações clínicas dos pacientes e a gravidade da DC (TWSTRS e VAS) na primeira avaliação (2001-2002) e na reavaliação (2008-2009) foram comparadas. Houve uma significante melhora motora detectada pelos resultados da escala TWSTRS, usada para analisar a gravidade clínica (19,6±6,6 e 17,7±4,8; p<0,05). Não houve melhora nos resultados referentes a dor cervical (p=0,43). Em conclusão, BoNT/A foi uma terapêutica de longo prazo efetiva e segura para DC.

Botulinum Toxin A Treatment for Cervical Dystonia Resulting in Endoscopic Thyroidectomy: A Case Report

PURPOSE: Surgery for thyroid gland requires skin incisions that can result in postsurgical neck scar. To overcome this, many surgeons performed a endoscopic thyroidectomy. But, this approach had a some problems. One of postoperative problems, iatrogenic cervical dystonia(CD) may occur. At common, CD is defined as a syndrome characterized by prolonged muscle contraction causing twisting, repetitive movements or abnormal posture. Botulinum toxin A(BTA, Botox(R), Allergan, Irvine, CA, USA) is well known treatment agent in the treatment of CD. So, the authors applied BTA injection in rare case with iatrogenic CD resulting in endoscopic thyroidectomy. METHODS: A 43-year-old female had endoscopic subtotal thyroidectomy operation 3 years ago. She had symptoms such as progressive cervical pain, abnormal neck posture, depression, and sleep difficulty. About 1 year later, the patient who had previous myomectomy of the clavicular head of sternocleidomastoid muscle, however, symptoms were not improved. And then the patient received BTA therapy in our department. The 2 units per 0.1mL solution was administered in a 1mL tuberculin syringe. RESULTS: The dose of BTA used in the patient was 36 units for vertical platysmal bands, superficially, and 10 units for ipsilateral sternocleidomastoid muscle, intramuscularly. After 2 weeks, additional the dose of BTA used in the patient was 5 points for remained scar bands, superficially. Complications related to injection such as significant swallowing difficulties, neck muscle weakness, or sensory change were not observed. In 9 months follow-up, the patient maintained a good result from the method of BTA injection alone. CONCLUSION: The basic concept is selective denervation for the hyperactive individual muscles and scar bands. We conclude that BTA is an effective and safe treatment for CD despite the iatrogenic and complex presentation of this complication.

Cross-cultural adaptation of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) to Brazilian Portuguese / Adaptação transcultural da escala de distonia cervical de Toronto (TWSTRS) para o português

Cervical dystonia (CD) is a prevalent and incapacitating movement disorder which needs a thorough clinical evaluation of every patient to better tailor treatment strategies. In Brazil, there are no validated CD scales that measure the burden of dystonia. The aim of our study was to translate and adapt the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) to Brazilian Portuguese. After translation and back-translation according to international methods, a pre-test was carried out with 30 patients. Patients under 8 years of formal schooling had severe difficulty in understanding the whole scale. The scale went through a remodeling process, without loss of its conceptual and semantic properties. The new scale was tested in 15 patients, with good understanding scores. We are now in the process of validation of the adapted scale.

Distonia cervical (DC) é um transtorno de movimento prevalente e incapacitante, sendo uma avaliação global e consistente de cada paciente necessária para a melhor intervenção diagnóstica e terapêutica. No Brasil, não há escalas validadas para avaliar o impacto da DC. O objetivo deste trabalho foi traduzir e adaptar uma escala mundialmente conhecida e usada, a Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) para o português. Após a tradução e retro-tradução da escala segundo as normas e critérios internacionais, realizamos o pré-teste com 30 pacientes, sendo que o completo entendimento da escala ficou prejudicado nos pacientes com escolaridade abaixo de 8 anos. Tornou-se necessária a re-adaptação da escala, com modificação de alguns elementos, tentando manter-se sua integridade conceitual e semântica. Após pré-teste adicional com 15 pacientes, verificou-se que a escala foi completamente entendida por praticamente todos os pacientes. A validação da escala está em andamento.

Verification of the Dystonic Muscles Using 18F-Fluorodeoxyglucose Positron Emission Tomography in a Patient with Cervical Dystonia: A case report

Treatment of choice for cervical dystonia is botulinum toxin (BTX) injection and surgical interventions can be tried in refractory cases. Success of BTX injection depends on precise muscle selection and adequate dosage of BTX. 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) can evaluate the metabolism of the superficial and deep cervical muscles with high resolution and may be useful for identifying dystonic muscles in CD. We report a satisfactory result of BTX injection using 18F-FDG PET/CT for identification of dystonic muscles in a patient with cervical dystonia who previously failed to respond to botulinum toxin injection and denervation operation.

Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

A 29-year-old man presented with involuntary head turning to the right. His family history showed that his mother and two maternal uncles had dysarthria and gait disturbance. Other than mild swaying on tandem gait, his neurologic examination was normal. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Molecular analysis revealed an expanded SCA6 (spinocerebellar ataxia 6) allele of 23 CAG repeats. We therefore report a case of SCA6 presenting with disabling cervical dystonia.

Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia / Retrocolis, anterocolis ou tremor cefálico podem predizer a progressão dos movimentos distônicos em pacientes com distonia cervical primária

BACKGROUND AND PURPOSE: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. METHOD: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. RESULTS: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6. CONCLUSION: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.

INTRODUÇÃO: Poucos estudos avaliam preditores clínicos de progressão dos movimentos distônicos, para além da região cervical, em pacientes com distonia cervical (DC) primária. MÉTODO: Avaliamos, retrospectivamente, 73 pacientes com DC primária, que tinham sido submetidos ao tratamento com a toxina botulínica tipo A (BTX-A). Estes pacientes foram divididos em dois grupos de acordo com a progressão ou não da DC para outras áreas do corpo. Aplicamos um modelo de regressão logística binária usando a progressão da distonia como variável dependente com o objetivo de identificar co-variáveis que aumentassem o risco de progressão. RESULTADOS: O modelo de regressão logístico identificou as seguintes co-variáveis como preditoras de progressão e seus respectivos índices de risco: tempo de doença >18,5 meses=2,4, retrocolis=1,9, anterocolis=1,8, tremor cefálico=1,6. CONCLUSÃO: Tempo de doença >18,5 meses, retrocolis, anterocolis, e tremor cefálico podem predizer a progressão do movimento distônico para outras regiões do corpo em pacientes com DC primária.

Differential Diagnosis and Management of Abnormal Posture of the Head and Neck

Abnormal posture of the head and neck can happen to anybody from neonates to adults, which requires appropriate interventions according to etiologies. Congenital muscular torticollis is the most common cause of abnormal posture of the head and neck in infancy, where early intervention as soon as possible is critical for better therapeutic outcome. Childhood laterocollis is heterogeneous condition, which needs etiological diagnosis for the proper management. Cervical dystonia is the most common form of focal dystonia and an overview on clinical presentations and therapeutic options including chemodenervation with botulinum toxin injection was provided. Abnormal posture of the head and neck of acute onset could be a sign of serious conditions and needs differential diagnosis.