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Temporomandibular disorders (TMD) can have multiple etiologies, including oromandibular dystonia (OMD). However, in a few cases, the OMD can evolve from cervical dystonia (CD), leading to severe bone degeneration. The purpose of this case report of a 64-year-old woman presenting to the Outpatient Neurology Clinic of the Federal University of Bahia is to illustrate the development of oromandibular dystonia with temporomandibular joint (TMJ) dysfunction after 10 years of cervical dystonia. Clinical examination showed bone degeneration of the mandibular ramus and right TMJ click, a prevalent sound in patients with temporomandibular disorders when they open their mouths or chew. After onabotulinum toxin type A injections in the right lateral pterygoid muscle, the patient improved in swallowing and pain. This case highlights the importance of close follow-up of cervical dystonia patients to identify new dystonic muscles. In our patient, lateral pterygoid muscle involvement was followed by several comorbidities, such as dysphagia and jawbone abnormalities.

Os distúrbios temporomandibulares (DTM) podem ter múltiplas etiologias, incluindo a distonia oromandibular (DO). No entanto, em raros casos, a DO pode evoluir a partir da distonia cervical (DC) e raramente pode levar a degeneração óssea. O objetivo deste relato de caso de uma mulher de 64 anos atendida no Ambulatório de Neurologia da universidade Federal da Bahia é ilustrar o desenvolvimento de distonia oromandibular com disfunção da articulação temporomandibular (ATM) após 10 anos de distonia cervical. O exame clínico mostrou degeneração óssea do ramo mandibular e clique na ATM direita, um som prevalente em pacientes com distúrbios temporomandibulares quando abrem a boca ou mastigam. Após injeções de toxina botulínica tipo A no músculo pterigoideo lateral direito, a paciente apresentou melhora na deglutição e na dor. Este caso destaca a importância do acompanhamento próximo de pacientes com distonia cervical para identificar novos músculos distônicos. Em nossa paciente, o envolvimento do músculo pterigoide lateral foi seguido por várias comorbidades, como disfagia e anormalidades ósseas da mandíbula.

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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.

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La distonía laríngea (DL), también conocida como disfonía espasmódica, es un desorden focal tarea-específico del movimiento, que afecta primariamente la producción de la voz. Los movimientos distónicos de las cuerdas vocales producen fenómenos diferentes, especialmente quiebres o interrupciones vocales y tensión en el tipo de distonía laríngea aductora (DLAD), e interrupciones y soplo o segmentos áfonos en el tipo abductor (DLAB). Más del 80% de pacientes sufren de DLAD o DEAD (disfonía espasmódica aductora). Dos pacientes de sexo femenino desarrollaron DL un mes después de haber contraído una infección del tracto respiratorio superior causada por COVID-19. Ambas presentaron distonía laríngea de tipo aductor. En el análisis acústico de la vocal /a/ sostenida se han observado quiebres o interrupciones, cambios frecuenciales y aperiodicidad. El rango de habla fue estudiado en ambas pacientes mediante el fonetograma, dando un resultado alterado. Posiblemente la inflamación de los nervios periféricos de la laringe, causada por COVID-19, produjo una alteración sensitiva con una respuesta mal adaptativa en estas pacientes con una base genética quizás predisponente. O la activación inmunológica, o la invasión del germen a través de la vía retrógrada alteraron las redes neuronales involucradas en la génesis de la DL.

Laryngeal dystonia (LD), also known as spasmodic dysphonia, is a task-specific focal movement disorder, primarily affecting voice production. The dystonic movements of the vocal folds result in a varied phenomenology, typically hard vocal breaks and strain in the adductor-type laryngeal dystonia (ADLD), and breathy breaks or aphonia in the abductor-type laryngeal dystonia (ABLD). More than 80% of patients have suffered from ADLD. Two female patients developed LD a month after presenting an upper respiratory tract infection by COVID-19. They had the adductor-type laryngeal dystonia. Through the acoustic study of the vowel /a/ breaks, frequency changes and aperiodicity were observed. Speech was studied using the phonetogram, and the range of speech is altered in both patients. The inflammation of the peripheral nerves of the larynx by COVID-19 produced a sensory alteration, with a maladaptive response in these patients, who perhaps had predisposing genetic basis, or the immunological activation or the invasion of the germ by retrograde pathway altered the neuronal networks involved in the genesis of LD.

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Abstract Background Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking. Objective Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome. Methods Patients with Meige's syndrome undergoing botulinum toxin injections were enrolled in this study. We assessed dystonia intensity before and 14 days after OBTA injection using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to measure the response of symptoms in the eyes (blepharospasm) and mouth (oromandibular dystonia). Other variables, such as dosage, side effects, and demographic data, were also recorded. Results The study included 41 participants, with a mean age of 67.7 years and a female-to-male ratio of 3.5:1. The mean BFMDRS score before the injections was 8.89, and after 14 days, it was 2.88. The most reported side effect was ptosis, with a 7.3% incidence. OBTA significantly reduced dystonia severity (p < 0.0001). The clinical response for the blepharospasm component was superior to the oromandibular dystonia component. Conclusion Our results support that OBTA seems to be an effective and safe therapeutic option for treating Meige's syndrome. The effect of OBTA was more pronounced in the treatment of blepharospasm than in oromandibular dystonia.

Resumo Antecedentes A síndrome de Meige (SM) é caracterizada pela ocorrência concomitante de blefarospasmo e distonia oromandibular. Embora a toxina onabotulínica do tipo A (TBA) seja o tratamento de escolha, há uma falta de evidências sobre sua eficácia e segurança nesse cenário. Objetivo O objetivo do nosso estudo foi avaliar os efeitos obtidos com a aplicação de TBA em pacientes com SM. Métodos Pacientes com SM que realizam aplicação de TBA foram convidados a participar desse estudo. Os participantes foram questionados sobre a intensidade da distonia antes e 14 dias após a injeção de TBA, utilizando a Escala de Distonia de Burke-Fahn-Marsden (EDBFM) para mensurar a resposta obtida em cada segmento. Outras variáveis, como dose, ocorrência de efeitos colaterais e dados demográficos, também foram registradas. Resultados O estudo contou com 41 participantes (idade média de 67,7; razão de 3,5 pacientes do sexo feminino para cada participante do sexo masculino). O escore médio na EDBFM antes das aplicações de TBA era 8,89, e, após 14 dias, 2,88. O efeito colateral mais reportado foi ptose (7.3%). A TBA foi capaz de reduzir a severidade da distonia (p < 0.0001), principalmente do blefarospasmo. Conclusão Nossos resultados corroboram que a TBA é uma terapêutica eficaz e segura no tratamento da SM. O efeito da TBA é superior no manejo do blefarospasmo em relação à distonia oromandibular.

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Abstract Spasmodic torticollis was an early designation used for cervical dystonia. The origin of this name is attributed to French physician and writer François Rabelais in the mid-sixteenth century. This early description of torticollis in the book Pantagruel was an inspiration for the understanding of cervical dystonia. The art expressed in Rabelais' literature - which was immortalized by the drawings of Gustave Doré - influenced poetry, art, and photography, and led to the adoption of the term torticollis in the neurological sciences.

Resumo Uma designação inicial usada para distonia cervical era torcicolo espasmódico. A origem desse termo é atribuída ao médico e escritor francês François Rabelais em meados do século XVI. Essa descrição inicial do torcicolo no livro Pantagruel foi uma inspiração para a compreensão da distonia cervical. A arte exibida na literatura de Rabelais - imortalizada pelos desenhos de Gustave Doré - influenciou a poesia, a arte e a fotografia, e levou à adoção do termo torcicolo nas ciências neurológicas.

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Abstract Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.

Resumo Antecedentes As paraplegias espásticas hereditárias ou familiares (SPG) compreendem um grupo de doenças geneticamente e fenotipicamente heterogêneas caracterizadas por degeneração progressiva dos tratos corticospinais. As formas complicadas evoluem com vários outros sinais e sintomas neurológicos, incluindo distúrbios do movimento e ataxia. Objetivo Resumir as descrições clínicas de SPG que se manifestam com distúrbios do movimento ou ataxias para auxiliar o clínico na tarefa de diagnosticar essas doenças. Métodos Realizamos uma revisão da literatura, incluindo relatos de casos, séries de casos, artigos de revisão e estudos observacionais publicados em inglês até dezembro de 2022. Resultados O parkinsonismo juvenil ou de início precoce com resposta variável à levodopa foi relatado principalmente em SPG7 e SPG11. A distonia pode ser observada em pacientes com SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 e SPG76. O tremor não é um achado frequente em pacientes com SPG, mas é descrito em diferentes tipos de SPG, incluindo SPG7, SPG9, SPG11, SPG15 e SPG76. A mioclonia é raramente descrita em SPG, afetando pacientes com SPG4, SPG7, SPG35, SPG48 e SPOAN (paraplegia espástica, atrofia óptica e neuropatia). SPG4, SPG6, SPG10, SPG27, SPG30 e SPG31 podem raramente apresentar ataxia com atrofia cerebelar. E SPG autossômico recessivo, como SPG7 e SPG11, também pode apresentar ataxia. Conclusão Indivíduos com SPG podem apresentar diferentes formas de distúrbios do movimento, como parkinsonismo, distonia, tremor, mioclonia e ataxia. O distúrbio específico do movimento na manifestação clínica de um paciente com SPG pode ser uma pista clínica para o diagnóstico.

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Abstract Background Deep Brain Stimulation (DBS) is an established treatment option for refractory dystonia, but the improvement among the patients is variable. Objective To describe the outcomes of DBS of the subthalamic region (STN) in dystonic patients and to determine whether the volume of tissue activated (VTA) inside the STN or the structural connectivity between the area stimulated and different regions of the brain are associated with dystonia improvement. Methods The response to DBS was measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) before and 7 months after surgery in patients with generalized isolated dystonia of inherited/idiopathic etiology. The sum of the two overlapping STN volumes from both hemispheres was correlated with the change in BFM scores to assess whether the area stimulated inside the STN affects the clinical outcome. Structural connectivity estimates between the VTA (of each patient) and different brain regions were computed using a normative connectome taken from healthy subjects. Results Five patients were included. The baseline BFM motor and disability subscores were 78.30 ± 13.55 (62.00-98.00) and 20.60 ± 7.80 (13.00-32.00), respectively. Patients improved dystonic symptoms, though differently. No relationships were found between the VTA inside the STN and the BFM improvement after surgery (p = 0.463). However, the connectivity between the VTA and the cerebellum structurally correlated with dystonia improvement (p = 0.003). Conclusions These data suggest that the volume of the stimulated STN does not explain the variance in outcomes in dystonia. Still, the connectivity pattern between the region stimulated and the cerebellum is linked to outcomes of patients.

Resumo Antecedentes A estimulação cerebral profunda (ECP) é um tratamento estabelecido para distonias refratárias. Porém, a melhora dos pacientes é variável. Objetivo O objetivo do estudo foi descrever os desfechos da ECP da região do núcleo subtalâmico (NST) e determinar se o volume de tecido ativado (VTA) dentro do NST ou se a conectividade estrutural entre a área estimulada e diferentes regiões cerebrais estão associadas a melhora da distonia. Métodos A resposta da ECP em pacientes com distonia generalizada isolada de etiologia hereditária/idiopática foi mensurada pela escala de Burke-Fahr-Marsden Dystonia Rating Scale (BFM) antes e 7 meses após a cirurgia. A soma dos volumes do NST nos dois hemisférios foi correlacionada com a melhora nos escores do BFM para avaliar se a área estimulada dentro do NST afeta o desfecho clínico. A conectividade estrutural estimada entre o VTA de cada paciente e as diferentes regiões cerebrais foram computadas usando um conectoma normativo retirado de indivíduos saudáveis. Resultados Cinco pacientes com idade de 40,00 ± 7,30 anos foram incluídos. O BFM motor e de incapacidade basal eram de 78,30 ± 13,55 (62,00-98,00) e 20,60 ± 7,80 (13,00-32,00), respectivamente. Os pacientes melhoraram com a cirurgia, mas com variabilidade. Não houve relação entre o VTA dentro do NST e a melhora do BFM após a cirurgia (p = 0.463). Entretanto, a conectividade estrutural entre o VTA e o cerebelo correlacionaram com a melhora da distonia (p = 0.003). Conclusão Os dados sugerem que o VTA dentro do NST não explica a variabilidade do desfecho clínico na distonia. Porém, o padrão de conectividade entre a região estimulada e o cerebelo foi relacionada com o desfecho dos pacientes.

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El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.

Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.

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La distonía por mutación en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofaríngeo, disartria, trastorno secundario de la deglución y discapacidad intelectual. Se describe el caso de una escolar de 10 años de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurológica, que presentó alteración de la marcha y distonía de inicio focal, de curso progresivo a una forma generalizada que afectó sus músculos orofaciales y bulbares con alteración significativa del lenguaje y la deglución. Los estudios metabólicos y sistémicos, incluidas las neuroimágenes, no evidenciaron anormalidades. Se hizo una secuenciación genómica completa y se identificó una nueva variante, probablemente patogénica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la distonía de inicio temprano autosómica dominante. Se reporta una nueva mutación heterocigota del gen KMT2B como causa de distonía generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagnóstico de esta afección tiene implicaciones en el tratamiento y el pronóstico de los pacientes, porque las estrategias terapéuticas tempranas pueden prevenir su rápido deterioro y un curso más grave de la enfermedad.

Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing. Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient's phenotype and it is associated to autosomal dominant childhood-onset dystonia-28. Conclusion: We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.

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RESUMEN INTRODUCCIÓN: La distonía mioclónica es un trastorno del movimiento con poca prevalencia, pero muy discapacitante, en el cual es frecuente la refractariedad al tratamiento médico. Cómo opción terapéutica se ha planteado la estimulación cerebral profunda, buscando con ello mejorar la función motora, la discapacidad y la calidad de vida de estos pacientes. MATERIALES Y MÉTODOS: Se presentan 3 pacientes con diagnóstico clínico de distonía mioclónica sin confirmación genética, que fueron llevados a estimulación cerebral profunda bilateral del globo pálido interno. RESULTADOS: Se evidenció una mejoría significativa en la evaluación de la escala unificada de mioclonías (80-90 %) y en la escala de distonía de Burke-Fahn-Marsden (tanto en movilidad como en discapacidad). La mejoría clínica se evidenció en los tres pacientes, en periodos de seguimiento que estuvieron entre los 6 meses y los 5 años luego de la estimulación cerebral profunda. DISCUSIÓN Y CONCLUSIONES: Los hallazgos en esta serie de 3 pacientes colombianos son consistentes con lo reportado en la literatura. Sin embargo, aportan información sobre el desenlace de pacientes sin genotipificación sometidos a estimulación cerebral profunda, dado que la eficacia de la intervención en pacientes con distonía sin confirmación genética aún no ha sido determinada, y depende de otros factores como la edad, el tiempo de evolución y el tipo de distonía.

ABSTRACT INTRODUCTION: Myoclonic dystonia is a movement disorder with low prevalence, but very disabling, where refractoriness to medical treatment is frequent. Deep brain stimulation has been proposed as a therapeutic option, seeking to improve motor function, disability and quality of life in these patients. MATERIALS AND METHODS: We present 3 patients with a clinical diagnosis of Myoclonic-Dystonia without genetic confirmation, who underwent bilateral deep brain stimulation of the Globus Pallidus Internus. RESULTS: A significant improvement was evidenced in the evaluation of the unified myoclonus scale (80-90 %) and in the Burke-Fahn-Marsden dystonia scale (both in mobility and in disability). The clinical improvement was evidenced in the 3 patients, in follow-up periods that were between 6 months and 5 years after deep brain stimulation. DISCUSSION AND CONCLUSIONS: Findings in this Colombian case series are consistent with that reported in the literature. However, the current description provides information on the outcome of patients without genotyping undergoing deep brain stimulation, considering that the efficacy of the intervention in these types of patients without genetic confirmation has not been determined and depends on other factors.

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