Translation, adaptation, and cross-cultural validation of the CDQ-24 scale in patients with primary blepharospasm under botulinum toxin treatment, pilot test.

BACKGROUND: Benign essential blepharospasm (BEB) is the most common adult-onset focal facial dystonia and its treatment of choice is periodic application of botulinum toxin (BtA). It has a higher incidence in middle and late adulthood, especially in women between 40 and 60 years of age. OBJECTIVE: To carry out the translation and cross-cultural adaptation of the CDQ24 questionnaire in its Spanish version in patients diagnosed with BEB who have been treated with BtA in an ophthalmologic center in Bogotá - Colombia. MATERIALS AND METHODS: Pilot test of validation study and adaptation of a scale assembled in a prospective cohort of the CDQ24 instrument to Spanish in adult patients with primary blepharospasm treated with botulinum toxin in Bogota, Colombia. RESULTS: We obtained a sample of 26 patients to whom the instrument was applied after translation and retranslation of the original document, composed of 19 (73%) women with a median age of 64.5 years; the average time to answer the survey was 4.93 min. The internal consistency of the scale evaluated by Cronbach's Alpha had a total score of 0.78. Criterion validity between the CDQ24 scale and the WHOQOL-BREF quality of life scale was determined by determining correlation between the Emotional Well-Being and Phsychological domains of both scales. CONCLUSIONS: The translation and cross-cultural adaptation of the CDQ-24 scale into Spanish allowed the applicability of the instrument to the Spanish-speaking population during the pilot test, which allows us to continue the relevant studies in the study population.

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.

Real-World Dosing of OnabotulinumtoxinA and IncobotulinumtoxinA for Cervical Dystonia and Blepharospasm: Results from TRUDOSE and TRUDOSE II.

The real-world use of onabotulinumtoxinA and incobotulinumtoxinA for cervical dystonia and blepharospasm treatment was assessed in two separate retrospective studies using identical protocols (TRUDOSE and TRUDOSE II). The studies were conducted in Mexico, Norway, and United Kingdom and designed to evaluate dose utilization of the two botulinum toxins in clinical practice. Eighty-three patients treated with both onabotulinumtoxinA and incobotulinumtoxinA for ≥2 years for each botulinum toxin were included, (52, cervical dystonia; 31, blepharospasm). All patients switched from onabotulinumtoxinA to incobotulinumtoxinA for administrative/financial reasons. A range of dose ratios (incobotulinumtoxinA to onabotulinumtoxinA) was reported; with the majority of dose ratios being >1. The mean dose ratio was >1 regardless of the study site or underlying clinical condition. The inter-injection interval was significantly longer for onabotulinumtoxinA versus incobotulinumtoxinA when assessed for all patients (15.5 vs. 14.3 weeks; p = 0.006), resulting in fewer onabotulinumtoxinA treatments over the study time period. Consistent with product labeling, no single fixed-dose ratio exists between incobotulinumtoxinA and onabotulinumtoxinA. The dosage of each should be individualized based on patient needs and used as per product labeling. These real-world utilization data may have pharmacoeconomic implications.

Botulinum Neurotoxin-A Injection in Adult Cervical Dystonia and Spastic Paresis: Results From the INPUT (INjection Practice, Usage and Training) Survey.

Botulinum toxin-A (BoNT-A) is an effective treatment for cervical dystonia (CD) and spastic paresis (SP), but it requires in-depth knowledge of anatomy and injection techniques. The Ixcellence Network® is an educational programme to provide neurology, neuropaediatrics, and physical medicine and rehabilitation (PMR) specialists with access to best clinical practices and innovations regarding SP and CD management with BoNT-A. To assess the benefits of such educational programmes and identify unmet needs, a multidisciplinary scientific committee designed INPUT (INjection Practice, Usage & Training), an international multicentric survey describing training and practices among this trained and experienced population. A self-completed questionnaire was sent online to 553 trainees and 14 trainers from the Ixcellence Network®. Among the 131 respondents, 92% specialized in PMR (48%) or neurology (44%), with a mean experience of 15.5 years in their clinical fields and 10.9 years of BoNT-A injection. Most of them (98%) reported having received training before performing their first BoNT-A injection and attending specific courses on how to perform it without any instrumental guidance (76%), and with ultrasound (73%), electrical stimulation (44%) or electromyography (41%). In terms of practices, 92% of respondents reported using at least one guidance technique while injecting, with ultrasound being the most used technique (48%). Attending specific courses was significantly associated with greater self-confidence and use, e.g. for injection with ultrasound, mean self-confidence, on a scale from 1 (not confident) to 10 (fully confident), was 7.9 for trained respondents (vs 4.0 for untrained respondents, p < 0.001) of whom 70% stated that they used this technique regularly or systematically (vs. 11% of untrained healthcare professionals (HCPs), p < 0.0001). Moreover, 84% of respondents reported having trained colleagues, residents or fellows through theoretical (70%) or practical teaching in individuals (80%) or in small groups (65%). Overall, 86% of respondents reported a notable increase over the past 5 years of the number of patients treated with BoNT-A. INPUT is the first international survey describing training and practices in SP and CD management of physicians who attended a dedicated educational programme. The results highlighted the importance of training for self-confidence, and the use of specific techniques and new approaches.

Cervical Dystonia Caused by Chronic Nonunion C2 Fracture: A Case Report.

Chronic nonunion cervical fracture leading to cervical dystonia (CD) is very rare. This study reports a 72-year-old man who presented with 9-month history of progressively worsening neck tilting, neck tightness, neck pain, headache, and difficulty with swallowing. The patient was referred to speech therapy and confirmed to have dysphagia on modified barium swallow study. A cervical spine radiograph showed a chronic C2 nonunion fracture. Subsequent cervical spine magnetic resonance imaging confirmed chronic C2 nonunion fracture with kyphotic deformity of the cervical canal with associated cord compression at C1-C2 and severe central canal stenosis. Needle electromyography revealed dystonic or spasmodic neck muscles, consistent with diagnosis of CD. Botulinum toxin injection resulted in marked clinical improvement. The patient finally underwent occipital to C4 posterior segmental fusion. No recurrence of CD had occurred 12 months after botulinum toxin injection and surgery, which supports the conclusion that chronic C2 nonunion fracture is most likely responsible for CD in this case. The authors suggest that all patients with CD receive dysphagia evaluation and more importantly cervical spine imaging to rule out chronic C2 nonunion fracture.

Headache Attributed to Craniocervical Dystonia - A Little Known Headache.

BACKGROUND: Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases. Headaches of any kind affected approximately 60% of patients with craniocervical dystonia, and were located mainly in the occipital and cervical regions. Headache attributed to craniocervical dystonia specifically was rarely found, and it was described in only one patient out of 80 in one study. Treatment with botulinum neurotoxin is considered to be the first-line treatment for focal dystonias, including craniocervical dystonia, and besides reducing clinical severity, impairment, and pain scores among the patients with craniocervical dystonia, there were also descriptions of improvements in headaches attributed to craniocervical dystonia and other headaches associated with this dystonia. CONCLUSIONS: Headache attributed to craniocervical dystonia has been poorly studied. There is a need for more studies to evaluate its characteristics and treatment.

Percheron thalamopeduncular syndrome with cervical dystonia: A case report.

Bilateral thalamic infarctions are usually caused by occlusion of the "Artery of Percheron" (AoP). Thalamopeduncular syndrome is among the most common presentations of AoP occlusion. A 59-year-old male presented abrupt decreased level of consciousness. After several weeks, on regaining consciousness, he exhibited oculomotor abnormalities, ataxic gait, cervical dystonia, and cognitive and behavioral changes. Magnetic resonance imaging disclosed thalamic, subthalamic, mammillary and midbrain infarction. Clinical features suggestive of bilateral thalamopeduncular syndrome were identified. Besides the presence of cognitive impairment and behavioral symptoms, cervical dystonia was evident, possibly resulting from interruption of the interconnections among basal ganglia, thalamus, subthalamus, midbrain and cerebellum.

Infartos talâmicos bilaterais são em geral ocasionados por oclusão da "Artéria de Percheron" (AdP). A síndrome talamopeduncular está entre as apresentações clínicas mais comuns da oclusão da AdP. Um homem de 59 anos apresentou rebaixamento abrupto do nível de consciência. Após algumas semanas, ao recobrar a consciência, apresentava anormalidades oculomotoras, marcha atáxica, distonia cervical e alterações cognitivas e comportamentais. A imagem por ressonância magnética evidenciou infartos talâmico, subtalâmico, mamilar e mesencefálico. O quadro clínico foi sugestivo de síndrome talamopeduncular. Além da presença de comprometimento cognitivo e transtornos de comportamento, estava presente distonia cervical, que pode resultar da interrupção das interconexões entre gânglios da base, tálamo, subtálamo, mesencéfalo e cerebelo.

Pain Relief in Cervical Dystonia with Botulinum Toxin Treatment.

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

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.

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.

BACKGROUND: Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinical population in Brazil. METHODS: Seventy-four patients presenting with dystonia involving the cervical muscles and without mutations in the TOR1A (DYT1) gene or any other movement disorders were recruited at a movement disorders clinic between June 2008 and June 2009. All the patients underwent clinical examination and were screened for mutations of the THAP1 gene. RESULTS: Three patients had the novel p.Gln97Ter THAP1 nonsense mutation in heterozygosis. One of them had no family history of dystonia. Symptoms in this patient first appeared in his right arm, and the condition progressed to the generalized form. The other two patients belonged to the same family (cousins). Symptoms in the first patient started in her right arm at the age of 18 years and the condition progressed to the segmental form. The second patient, who carried the p.Arg169Gln missense mutation, developed dystonia in her left arm at the age of 6 years. The condition progressed to generalized dystonia. DISCUSSION: We conclude that THAP1 mutations are also a cause, albeit uncommon, of segmental and generalized dystonia in the Brazilian population.

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.

Diffuse decreased gray matter in patients with idiopathic craniocervical dystonia: a voxel-based morphometry study.

BACKGROUND: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia (CCD). Neuroimaging studies have attempted to identify structural abnormalities in CCD but a clear pattern of alteration has not been established. We performed whole-brain evaluation using voxel-based morphometry (VBM) to identify patterns of gray matter (GM) changes in CCD. METHODS: We compared 27 patients with CCD matched in age and gender to 54 healthy controls. VBM was used to compare GM volumes. We created a two-sample t-test corrected for subjects' age, and we tested with a level of significance of p < 0.001 and false discovery rate (FDR) correction (p < 0.05). RESULTS: Voxel-based morphometry demonstrated significant reductions of GM using p < 0.001 in the cerebellar vermis IV/V, bilaterally in the superior frontal gyrus, precuneus, anterior cingulate and paracingulate, insular cortex, lingual gyrus, and calcarine fissure; in the left hemisphere in the supplementary motor area, inferior frontal gyrus, inferior parietal gyrus, temporal pole, supramarginal gyrus, rolandic operculum, hippocampus, middle occipital gyrus, cerebellar lobules IV/V, superior, and middle temporal gyri; in the right hemisphere, the middle cingulate and precentral gyrus. Our study did not report any significant result using the FDR correction. We also detected correlations between GM volume and age, disease duration, duration of botulinum toxin treatment, and the Marsden-Fahn dystonia scale scores. CONCLUSION: We detected large clusters of GM changes chiefly in structures primarily involved in sensorimotor integration, motor planning, visuospatial function, and emotional processing.

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...

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.

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.