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Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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.

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.

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.

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background Deep Brain Stimulation (DBS) is an established treatment option for refractory dystonia, but the improvement among the patients is variable.

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.

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introducción. La distonía es un trastorno del movimiento que produce afectaciones funcionales a quienes la padecen; la aplicación de toxina botulínica es el tratamiento de elección debido a su seguridad. Objetivo. Describir losresultadosclínicos del uso a largo plazo de toxina botulínica en un grupo de pacientes con diagnóstico de distonía atendidos en un hospital de tercer nivel de complejidad de Bogotá, Colombia. Métodos. Estudio observacional. Se revisaron las historiasclínicas de los pacientescon diagnóstico de distonía atendidos en la clínica de espasticidad y distonía de una institución de salud. El dolorse evaluó con la escala visual análoga (EVA)yla percepción de mejoría de síntomas(recuperación de los arcos de movilidad y disminución de movimientos involuntarios); además, el especialista que realizó la aplicación de la toxina botulínica analizó el comportamiento de estas variables en el tiempo. Resultados. Se incluyeron 28 pacientes, el tipo de distonía más frecuente fue la cervical (75%) y el promedio de tiempo de tratamiento fue de 4,95 años (DE=2,89). Se encontró una reducción de dolor del 79,32%, la cual se mantuvo en el tiempo (p

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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. [ABSTRACT FROM AUTHOR]

Introduction: Patients managed in the Pediatric Palliative Care Integral Unit (PPCIU) have serious neurological conditions that involve significant damage at central nervous system level. The movement disorder is a very common clinical problem and for the patients where an adequate control of muscle tone is not achieved with usual techniques or drugs, intrathecal baclofen therapy (IBT) should be considered., Materials and Methods: Descriptive retrospective study based on the review of clinical records of patients who received IBT being followed by the PPCIU of Madrid Autonomous Region in the timeframe between September 2012 and February 2021., Results: IBT was implanted in 8 patients affected by infantile cerebral palsy (ICP) with a Gross Motor Function Scale (GMFCS) IV-V, 3 patients was a Pantothenate kinase deficit-associated neurodegeneration (PKAN), 2 had Acquired Brain Damage, and the remaining 3 had, respectively, 2 glutaric aciduria type I (GA-1), and poly-malformative syndrome. In all patients we observed a period of clinical stability after IBT, we call this period "honeymoon". Two patients died while in the honeymoon period, at 24.9 and 19.6 months from implantation of the pump; the median of duration of the honeymoon period in the remaining 14 was 14.4 months (IQ: 8.3-25.8)., Conclusions: IBT was not only used in patients with non-progressive diseases, but also in the group of patients with neurodegenerative or progressive diseases. In all of them, after implantation of the device, we have objectified a period of clinical stability and a better control of muscle tone disorders., (Copyright © 2022 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Botulinum toxin type A is used to treat spasticity and dystonia. However, its relationship with muscle morphology has not been studied. The action mechanism of botulinum toxin is based on the inhibition of acetylcholine release. Therefore, larger doses of toxin would be needed to treat larger muscles. This study aims to establish whether there is a discrepancy between muscle morphology and the botulinum toxin doses administered., Methods: We dissected, and subsequently measured and weighed, muscles from the upper and lower limbs and the head of a fresh cadaver. We consulted the summary of product characteristics for botulinum toxin type A to establish the recommended doses for each muscle and calculated the number of units infiltrated per gramme of muscle., Results: Different muscles present considerable morphological variability, and the doses of botulinum toxin administered to each muscle are very similar. We observed great variability in the amount of botulinum toxin administered per gramme of muscle, ranging from 0.3 U/g in the biceps femoris to 14.6 U/g in the scalene muscles. The mean dose was 2.55 U/g. The doses administered for nearly all lower limb muscles were below this value., Conclusions: There are significant differences in morphology between the muscles of the lower limbs, upper limbs, and head, but similar doses of botulinum toxin are administered to each muscle. These differences result in great variability in the number of units of botulinum toxin administered per gramme of muscle., (Copyright © 2021 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

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.

Introduction: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. Objectives: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. Results: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome. Resumen: Introducción: Muchas enfermedades que cursan con trastornos del movimiento hipercinético debutan o afectan a mujeres en edad fértil. Es importante conocer los riesgos que tienen las mujeres con estas enfermedades durante el embarazo así como los posibles efectos de los tratamientos sobre el feto. Objetivos: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con distonía, corea, síndrome de Tourette, temblor y síndrome de piernas inquietas. Definir una guía de actuación y manejo del embarazo y lactancia en las pacientes con esta enfermedad. Desarrollo: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos llevadas a cabo por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología (SEN). Conclusiones: En todas las mujeres que padecen o debutan con trastornos del movimiento hipercinéticos se debe valorar el riesgo-beneficio de los tratamientos, reducir al máximo la dosis eficaz o administrarlo de forma puntual en los casos en que sea posible. En aquellas patologías de causa hereditaria es importante un consejo genético para las familias. Es importante reconocer los trastornos del movimiento desencadenados durante el embarazo como determinadas coreas y el síndrome de piernas inquietas.

Introducción. La distonía laríngea o disfonía espasmódica se caracteriza por contracciones involuntarias de los músculos laríngeos internos que se desencadenan al hablar, siendo la forma aductora la más frecuente. La inyección de toxina botulínica es el manejo de elección. Para evaluar la respuesta a la terapia existen varios instrumentos validados, uno de ellos es el cuestionario Voice Handicap Index-10 (VHI-10). El objetivo de este estudio es caracterizar a los pacientes con disfonía espasmódica aductora y evaluar el impacto de la toxina en su calidad de vida. Método. Éste se centró en un estudio retrospectivo descriptivo en pacientes adultos con diagnóstico de disfonía espasmódica aductora tratados con toxina botulínica A, en el Hospital Clínico Universidad de Chile (HCUC), en el periodo comprendido entre 2013 y 2021. El mismo permitió la obtención de los datos epidemiológicos de los pacientes, a quienes se les solicitó responder la encuesta VHI-10 previo y posterior a un mes de cada inyección de la toxina. Resultados. Se incluyeron 55 pacientes (218 procedimientos). La dosis promedio utilizada fue de 9,18 UI con un intervalo promedio de 7,4 meses. El puntaje VHI-10 promedio en la evaluación inicial fue de 29,4 y posinfiltración de 14,96, siendo esta diferencia significativa (p < 0,000001). En nuestra serie casi un tercio tiene asociada alguna patología neurológica, y se reportó un 3,67% de complicaciones leves y transitorias. Conclusión. La disfonía espasmódica aductora tiene un gran impacto en la calidad de vida de los pacientes, que se reduce significativamente mediante la inyección de toxina botulínica A, procedimiento que ha demostrado ser seguro y eficaz.

Copyright of Revista Colombiana de Psiquiatria is the property of Asociacion Colombiana de Psiquiatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A calcificação dos núcleos da base, ou síndrome de Fahr, pode ser secundária a variadas doenças, nomeadamente as que cursam com envolvimento da paratiróide. Distúrbios do movimento são achados clínicos comuns, mas a coreia é observada em menos de 20% dos casos e a distonia apenas em 8%. Apresentamos o caso de um homem de 49 anos com antecedentes de tiroidectomia, admitido no serviço de urgência com coreia aguda generalizada e distonia focal dolorosa dos pés, cujo estudo laboratorial revelava hipocalcémia e rabdomiólise e a tomografia computorizada crânio-encefálica mostrava calcificações parenquimatosas extensas com envolvimento dos núcleos da base. A alargada investigação complementar permitiu fazer o diagnóstico de síndrome de Fahr secundária a hipoparatiroidismo iatrogénico. Após estabilização da calcémia, a evolução clínica foi favorável com resolução dos sintomas neurológicos. A hipocalcémia deve ser investigada e corrigida depois de tiroidectomias, dada a irreversibilidade das calcificações intracerebrais e as potenciais consequências neurológicas e sistémicas.

A doença de Niemann Pick Tipo C (NP-C) é um distúrbio genético raro decorrente de um erro inato do metabolismo, o qual repercute no metabolismo do colesterol não esterificado, o qual se torna neurodegenerativo. O objetivo deste resumo é apresentar um caso de paciente com doença de NP-C de início tardio, com suas devidas particularidades e dessa forma, discutir as características de sua patologia e contribuir com conhecimento acerca da doença. Estudo foi aprovado pelo comitê de ética da UniCesumar (Protocolo nº3.582.503). Relato do caso: Paciente masculino, 59 anos, há cerca de 7 anos começou a apresentar dificuldade de coordenação motora e ataxia. Nesse período evoluiu com disartria e problemas cognitivos relacionados a memória recente. Foi inicialmente diagnosticado com Mal de Parkinson. Posteriormente, devido associação de ataxia com distúrbio da motilidade ocular vertical foi suspeitada a possibilidade de NP-C. Foi realizada biópsia de pele com teste de Filipin que foi negativa e dosagem da quitotriosidade normal. O biomarcador Lyso SM-509 teve resultado aumentado e o teste genético confirmou o diagnóstico de NP-C com mutação NPC1. Foi iniciado tratamento com Miglustate 200mg e aconselhamento genético. A doença de NP-C é uma condição genética autossômica ressessiva. Abordamos uma forma tardia da doença que se desenvolveu apenas os 52 anos de idade, onde seu aparecimento é tão atípico, que o diagnóstico se torna complexo, podendo ser confundido com outras doenças. A ataxia cerebelar e a oftalmoplegia supranuclear são manifestações comuns de serem encontradas nas formas infantil e adulta, variando em progressão, sendo esta mais lenta nos adultos. As manifestações podem variar, como disartria, disfagia, comprometimento cognitivo e outros distúrbios do movimento, como tremores e distonia. Esses sintomas estavam presentes no caso descrito, mas que diante da idade de apresentação, compartilham quadro clínico semelhante de outras doenças mais prevalentes na faixa etária do paciente, como a doença de Parkinson, levando a esse diagnóstico inicialmente. O diagnóstico da NP-C se dá pelos sintomas característicos da doença juntamente com testes bioquímicos e genéticos. A biópsia de pele para o teste de Filipin pode ser usada em casos inconclusivos. Sendo assim, diante da variedade de sintomas possíveis para a NP-C, um paciente em uma faixa etária atípica para a doença, o diagnóstico torna-se um desafio. A NP-C possui tratamento, mas é incurável. Estudos comprovaram que o Miglustate reduz a progressão dos sintomas neurológicos associados a NP-C. Desta forma, conclui-se que a forma tardia de NP-C é difícil de ser reconhecida, pois toda a sua gama de sinais e sintomas sinalizam a favor de outras doenças mais comuns na faixa etária. Portanto, é importante reconhecer a oftalmoplegia supranuclear e ataxia, principalmente quando combinadas, NP-C sempre deve ser incluída no diagnóstico diferencial.

Copyright of Revista Brasileira de Medicina do Esporte is the property of Redprint Editora Ltda. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Background: the clinicians rarely have to cope with diseases of nutritional origin and scarcely, although possible, vitamins alterations produce neurological symptoms. Objectives: to show, based on two clinical cases, the neurological symptoms due to liposoluble vitamins alterations, focusing on vitamins E and A. Conclusions: it is important to consider liposoluble vitamin alterations as a cause of neurological symptoms, despite their rarity, after rolling out the most probable entities. [ABSTRACT FROM AUTHOR]

Copyright of Médicas UIS is the property of Universidad Industrial de Santander and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objetivo: Estandarizar la metilación cuantitativa de las regiones promotoras de los genes TOR1A y THAP1 y la genotipificación de la variante común TOR1A_rs1801968 (p.D216H) en una muestra de pacientes con distonía genética por la variante TOR1A_ delGAG, portadores asintomáticos y controles sanos para analizar si son factores causales de la penetrancia incompleta en distonía genética. Antecedentes: La mayoría de casos de distonía generalizada de inicio temprano, asociada a DYT-TOR1A, se deben a la deleción del triplete GAG en el exón 5 del gen. Sin embargo, no todos los portadores de esta variante manifiestan la enfermedad, ya que presentan penetrancia incompleta (-30%). Se han postulado diversos factores causales incluyendo a la variante TOR1A_rs1801968 (p.D216H), donde el alelo D en cis se relaciona con distonía y el alelo H en trans, como un factor protector. Además, DYT-THAP1 regula la expresión de TOR1A; por lo que, algunos mecanismos epigenéticos en ambos promotores podrían ser factores adicionales. Número protocolo INNN_161/22 Métodos: Siguiendo todas las consideraciones éticas, se diseñaron 3 pares de oligonucleótidos y sondas específicas para amplificar y secuenciar las regiones promotoras de TOR1A y THAP1 con el programa PyroMark v2.0 (QIAGEN). El ADN extraído de muestras de sangre periférica, fue tratado con NaHSO3, se amplificó y secuenció por pirosecuenciación. La variante TOR1A_rs1801968 se genotipó por discriminación alélica en equipo QUANT Studio. El análisis estadístico incluyó la diferencia de medianas en los niveles de metilación y prueba exacta de Fisher para proporción de genotipos entre grupos. Resultados: En 12 pacientes vs. 16 controles pareados no se identificaron diferencias significativas entre el porcentaje de metilación de los promotores analizados mediante dos sondas, ni en la frecuencia de la variante. Queda pendiente el análisis de una segunda región en el promotor de TOR1A, la inclusión de información clínica e incrementar el tamaño de la muestra, incluyendo al grupo de portadores asintomáticos. Conclusiones: Se estandarizaron satisfactoriamente la metilación cuantitativa de los promotores TOR1A/THAP1 y el genotipado de la variante de riesgo, lo cual permitirá explorar su relación con la penetrancia en la distonía genética y ayudar a mejorar el asesoramiento genético para esta patología. [ABSTRACT FROM AUTHOR]

La ejecución excesiva de instrumentos de viento puede ser un factor causal para el desarrollo de distonía de la embocadura, caracterizada clínicamente por la aparición de contracciones musculares involuntarias, asociadas con la pérdida del control motor. Es importante que los profesionales y especialistas tengan el conocimiento necesario al momento de diagnosticar y tratar a la población que puede presentar este trastorno. El objetivo de esta revisión es examinar la literatura científica disponible en cuanto a la historia, epidemiología, fisiopatología, diagnóstico y tratamiento de la distonía de la embocadura en intérpretes de instrumentos de viento, con el fin de brindar herramientas para la prevención, el diagnóstico y el tratamiento de los músicos potencialmente susceptibles de desarrollar este trastorno.

Copyright of Manuelle Medizin is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

ABSTRACT INTRODUCTION: Although syndromes that cause voice tremor have singular characteristics, the differential diagnosis of these diseases is a challenge because of the overlap of the existing signs and symptoms. OBJECTIVE: To develop a task-specific protocol to assess voice tremor by means of nasofibrolaryngoscopy and to identify those tasks that can distinguish between essential and dystonic tremor syndromes. METHODS: Cross-sectional study. The transnasal fiberoptic laryngoscopy protocol, which consisted of the assessment of palate, pharynx and larynx tremor during the performance of several vocal and non-vocal tasks with distinct phenomenological characteristics, was applied to 19 patients with voice tremor. Patients were diagnosed with essential or dystonic tremor according to the phenomenological characterization of each group. Once they were classified, the tasks associated with the presence of tremor in each syndrome were identified. RESULTS: The tasks that significantly contributed to the differential diagnosis between essential and dystonic tremor were /s/ production, continuous whistling and reduction of tremor in falsetto. These tasks were phenomenologically different with respect to the presence of tremor in the two syndromes. CONCLUSION: The protocol of specific tasks by means of transnasal fiberoptic laryngoscopy is a viable method to differentiate between essential and dystonic voice tremor syndromes through the following tasks: /s/ production, continuous whistling and reduction of tremor in falsetto.

The definition and classification of the dystonias was recently revisited. In the new 2013 classification, the dystonias are subdivided in terms of their etiology according to whether they are the result of pathological changes or structural damage, have acquired causes or are inherited. As hereditary dystonias are clinically and genetically heterogeneous, we sought to classify them according to the new recently defined criteria. We observed that although the new classification is still the subject of much debate and controversy, it is easy to use in a logical and objective manner with the inherited dystonias. With the discovery of new genes, however, it remains to be seen whether the new classification will continue to be effective.

In the last 30 years not only have significant progress in the genetic and physiological aspects of dystonia but the diagnostic, classification and treatment approach. For years, oral medications were used exclusively, with the introduction of botulinum toxin and deep brain stimulation, in addition to advances in the understanding of the disease, it has had a positive impact on the quality of life of those who suffer from it and their families. In this article, we will carry out an integral update of the dystonia from its definition, phenomenology, classification, etiology, and treatment. [ABSTRACT FROM AUTHOR]

Copyright of Acta Médica Peruana is the property of Colegio Medico del Peru and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

El uso de neuroimágenes en distonía es bastante extenso en el campo de la investigación, no obstante, el uso clínico práctico en términos de diagnóstico se centra en el estudio de potenciales causas secundarias.

La distonía psicógena (funcional) es una condición que representa un reto para el clínico, desde su terminología confusa hasta el tratamiento integral. Este fenómeno se presenta en pacientes con ausencia de una enfermedad neurológica o condición secundaria que explique cabalmente dicha presentación y generalmente con una comorbilidad psiquiátrica marcada.

La distonía es una entidad pobremente comprendida ya que a pesar que la era genómica ha proporcionado muchas pistas para la elucidación de los circuitos cerebrales responsables de este fenómeno, aún resta mucho por entender debido a que los modelos actuales son insuficientes para comprender a cabalidad esta entidad clínica.

Existen enfermedades y condiciones que se presentan con movimientos involuntarios hipercinéticos de aparición súbita y remisión espontanea (episódicas). Dichas condiciones generan dificultades diagnósticas ya que por su carácter intermitente, en ocasiones no pueden ser evaluadas por el clínico.

Las distonías que se generan por una causa específica (secundaria), son menos frecuentes que las distonías primarias (genéticas). Las causas son multifactoriales, incluyendo lesiones puntuales en alguna estructura cerebral, así como toxinas, medicamentos o infecciones.

La toxina botulínica es actualmente en tratamiento de elección para las distonía focales y algunos segmentos del cuerpo en casos de distonía generalizada. Estos compuestos fueron utilizados por primera vez por oftalmólogos para el tratamiento de pacientes con estrabismo pero tiempo después se expandió su uso para indicaciones en neurología especialmente en distonía.

A pesar de los recientes avances en la comprensión de los circuitos cerebrales involucrados en la distonía, las técnicas quirúrgicas invasivas y no invasivas han fallado en proporcionar un beneficio substancial a los pacientes que sufren de distonía, en comparación con los resultados observados en la enfermedad de Parkinson, no obstante, la lesionectomía, la estimulación cerebral profunda y el ultrasonido enfocado pueden proporcionar mejoría en los casos refractarios al manejo médico.

Para el manejo médico de la distonía se han utilizado tradicionalmente varios fármacos encaminados a disminuir esta condición y a mejorar la calidad de vida. Las terapias orales solas o combinadas proporcionan control parcial de los síntomas y en la mayoría de los casos hay que recurrir a terapias invasivas.

El uso de la medicina complementaria y alternativa está aumentando en todo el mundo, especialmente en los pacientes con enfermedades crónicas. En los tiempos de la medicina basada en la evidencia, en ocasiones se puede omitir el potencial beneficio de las terapias alternativas que no siempre pueden ser sometidas a la rigurosidad científica de los ensayos clínicos.

La distonía es un movimiento involuntario caracterizado por una postura anormal de una o varias partes del cuerpo. Esta revisión aporta la última información respecto a la clasificación y métodos diagnósticos necesarios para acercarnos a la comprensión de este fenómeno.

El concepto de disquinesia surgió para denominar cualquier tipo de movimiento anormal hiperquinético secundario al uso crónico de antipsicóticos, no obstante, se considera en la actualidad que se debe definir de manera más exacta la fenomenología predominante del tipo de síndrome tardío, ya que no solo se puede presentar con el síntoma clásico del movimiento coreico oro-buco-lingual, también puede presentarse con distonía.

Con el avance de la secuenciación genética y otras técnicas se ha logrado avanzar de manera significativa en la detección de formas monogénicas de la distonía así como en la contribución de varios factores genéticos en la génesis de esta condición.

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.

Objective : Describe the functional, clinical and quality of life (QoL) profiles in patients with cervical dystonia (CD) with residual effect or without effect of botulinum toxin (BTX), as well as verify the existence of correlation between the level of motor impairment, pain and QoL. Method : Seventy patients were assessed through the Craniocervical dystonia questionnaire-24 (CDQ-24) and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Results : The greater the disability, pain and severity of dystonia, the worse the QoL (p

El presente artículo busca dar a conocer los aspectos prácticos y de utilidad clínica, las nuevas técnicas y los avances en el uso de la toxina botulínica tipo A (TB-A) en la disciplina de la Medicina Física y Rehabilitación en adultos. Nos parece un objetivo importante, despejar los mitos sobre sus efectos y seguridad en el uso clínico.

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

The symptoms of Meniere's disease form a distinct cluster: bouts of vertigo, fluctuating hearing loss, low-frequency tinnitus, and a feeling of pressure in the ear. Traditionally, these signature symptoms have pointed to some sort of pathology within the inner ear itself, but here the focus is shifted to the middle ear muscles. These muscles, the tensor tympani and the stapedius, have generally been seen as serving only a secondary protective role in hearing, but in this paper they are identified as vigilant gate-keepers - constantly monitoring acoustic input and dynamically adjusting hearing sensitivity so as to enhance external sounds and suppress internally generated ones. The case is made that this split-second adjustment is accomplished by regulation of inner ear pressure: when the middle ear muscles contract they push the stapes into the oval window and increase the pressure of fluids inside the otic capsule. In turn, hydraulic pressure squeezes hair cells, instantly adjusting their sensitivity. If the middle ear muscles should malfunction - such as from cramp, spasm, or dystonia - the resulting abnormal pressure will disrupt hair cells and produce Meniere's symptoms. A wide-ranging review of Meniere's disease and the middle ear muscles reinforces the link between the two. Since every striated muscle is prone to dystonia - an involuntary contraction involving derangement of its underlying control loop - middle ear muscle dystonia would lead to elevated pressure and abnormal hair cell function. The hypothesis is based on recognizing that the inner ear is a hydrostat - a cavity filled with fluid whose pressure is controlled by the middle ear muscles. Since the fluid is incompressible, even a slight contraction of the muscles can increase the pressure in the labyrinth to 3 kPa. The effect of such a pressure on the sensing cells within is crucial. Outer hair cells carry an internal turgor pressure of about 1 kPa, behaving physically like inflated balloons, and hence contraction of the middle ear muscles can instantly overcome internal cellular pressure, switch off ion channels, and reduce hearing sensitivity. This paper brings together supporting evidence and sets out major implications for Meniere's disease, including possible treatments. [ABSTRACT FROM AUTHOR]

A disfonia espasmódica (DE) é um distúrbio vocal caracterizado por voz tensa-estrangulada, com quebras de sonoridade e que compromete a comunicação do indivíduo. O objetivo deste estudo é apresentar uma revisão bibliográfica dos tratamentos médico e fonoaudiológico proposto para a DE no período entre 2006 e 2010. Os tratamentos descritos foram: injeção de toxina botulínica (TB), miectomia, neurectomia, denervação e reinervação laríngea seletiva adutora, tireoplastia, miotermia tiroaritenóidea com radiofrequência, injeção de lidocaína, homeopatia e tratamento fonoaudiológico (fonoterapia). O uso de injeção de TB mostrou resultados que indicaram a satisfação dos pacientes tratados, embora alguns dos artigos apontassem a necessidade de reaplicação da toxina frequentemente, como desvantagem. Os procedimentos cirúrgicos foram considerados duradouros e indicados para os pacientes que não quiseram se submeter às aplicações de TB. Tais estudos, no entanto, apresentaram contingência de pacientes restrita e os resultados foram baseados, na maioria das investigações, no julgamento dos próprios pacientes sobre a sua qualidade vocal. Os tratamentos, com uso de lidocaína e homeopatia, mostraram resultados positivos em relação à qualidade vocal dos pacientes e foram sugeridos como uma opção, também, para aqueles que não gostariam de ser submetidos ao tratamento cirúrgico ou à aplicação de TB. Os poucos estudos que reportam fonoterapia assinalaram bons resultados quando a mesma foi associada à injeção de TB, mostrando a escassez de informações nesta área. Futuras pesquisas envolvendo a fonoterapia no tratamento da DE são necessárias.

OBJETIVO: avaliar o impacto causado pela alteração vocal na qualidade de vida (QV) dos pacientes com doença de Parkinson (DP) idiopática e com disfonia espasmódica adutora (DEA). MÉTODO: o estudo foi realizado com 56 indivíduos do sexo feminino, dos quais 28 compunham o grupo controle; 14, o grupo de DEA, no período anterior ao tratamento com toxina botulínica; e 14, o grupo de DP idiopática. Os participantes preencheram o questionário de Qualidade de Vida em Voz (QVV) validado para o português brasileiro. Para verificar a diferença entre as médias dos grupos foi utilizado o método de análise de variância por postos de Kruskal-Wallis e o teste de Tamhane para comparações múltiplas, com significância PURPOSE: to evaluate the impact of voice disorders on quality of life of patients with idiopathic Parkinson's disease and with adductor spasmodic dysphonia. METHOD: the study consisted of 56 females, 28 in the control group; 14, the adductor spasmodic dysphonia group in the period prior to treatment with botulinum toxin; and 14, the group of idiopathic Parkinson's disease. The participants filled in the Voice-Related Quality of life (V-RQOL) questionnaire validated for Brazilian Portuguese. To check the difference between averages of the groups it was used the method of analysis of variance by Kruskal-Wallis and Tamhane test for multiple comparisons, with significance