Distonía laríngea post COVID-19: reporte de dos casos y posible explicación fisiopatogénica

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.

Movement disorders in hereditary spastic paraplegias / Distúrbios de movimento em paraplegia espástica hereditária

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.

Botulinum toxin type A infiltration in spasticity and cervical dystonia. Muscle morphology: an overlooked factor.

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.

Exploring clinical outcomes in patients with idiopathic/inherited isolated generalized dystonia and stimulation of the subthalamic region / Explorando os desfechos clínicos em pacientes com distonia idiopática/hereditária generalizada isolada submetidos a estimulação da região subtalâmica

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.

Descripción de la afectación de la destreza y función manual en pacientes con distonía focal de la mano / Alterations in dexterity and manual function in patients with focal hand dystonia

Introducción: La distonía focal de la mano es un trastorno del movimiento cuya sintomatología produce una alteración en el desempeño de tareas que requieren un nivel de destreza alto. Actualmente no se dispone de un modelo de interpretación de la enfermedad y son escasos los estudios que identifican las dificultades de las personas con distonía al desempeñar las actividades de la vida diaria (AVD). Por todo ello, el objetivo del estudio es describir la destreza manipulativa y su influencia en las AVD de los pacientes con distonía focal de la mano.Material y métodoSe realizó un estudio observacional, transversal, tipo casos y controles. Se reclutaron 24 participantes: 12 pacientes y 12 sujetos control. Los pacientes fueron derivados por el Servicio de Neurología del Hospital Ramón y Cajal. Se obtuvieron datos sociodemográficos y clínicos retrospectivos en el grupo de casos. Posteriormente, se administraron pruebas de evaluación, en el siguiente orden: Nine Hole Peg Test (NHPT), Box and Blocks Test (BBT), Purdue Pegboard Test (PPT) y Jebsen-Taylor Test of Hand Function (JTTHF).ResultadosEn la muestra del estudio participaron un total de 24 personas, siete mujeres y 17 hombres, con una media de edad de 50,79 ± 14,40 años. Del total de participantes con distonía focal se observó que, aunque la mitad de la muestra no identificó signos de afectación neuromuscular, ni problemas psicoemocionales, un menor porcentaje de estos pacientes identificaron dificultades asociadas con el hombro derecho (25%) y el estado ansioso (33,3%).ConclusionesLos hallazgos encontrados en el presente trabajo señalan que la distonía focal de la mano afecta a la destreza manipulativa de estos pacientes, presentando una peor ejecución y requiriendo más tiempo para su ejecución. (AU)

Introduction: Focal hand dystonia is a movement disorder whose symptoms cause alterations in the performance of tasks requiring a high level of dexterity. Currently, there is no model for interpreting the disease and few studies have identified the difficulties of patients with dystonia in carrying out activities of daily living (ADL). This study aims to describe manipulative dexterity and its influence on ADLs in patients with focal hand dystonia.Materials and methodsWe performed an observational, cross-sectional, case-control study including 24 participants (12 patients with focal hand dystonia and 12 controls). The patients were referred by the neurology department of Hospital Ramón y Cajal. We gathered sociodemographic data, as well as retrospective clinical data for patients. We subsequently administered evaluation tests, in the following order: Nine-Hole Peg Test (NHPT), Box and Blocks Test (BBT), Purdue Pegboard Test (PPT), and Jebsen-Taylor Test of Hand Function (JTTHF).ResultsThe study sample included a total of 24 participants, 7 women and 17 men, with a mean age (standard deviation) of 50.79 (14.40) years. In the patient group, neuromuscular involvement or psycho-emotional problems were not detected in half of cases; smaller numbers of patients presented difficulties associated with the right shoulder (25%) and anxious state (33.3%).ConclusionsOur results indicate that focal hand dystonia affects manipulative dexterity in these patients, who showed poorer performance and required more time to complete the tasks. (AU)

Alterations in dexterity and manual function in patients with focal hand dystonia.

INTRODUCTION: Focal hand dystonia is a movement disorder whose symptoms cause alterations in the performance of tasks requiring a high level of dexterity. Currently, there is no model for interpreting the disease and few studies have identified the difficulties of patients with dystonia in carrying out activities of daily living (ADL). This study aims to describe manipulative dexterity and its influence on ADLs in patients with focal hand dystonia. MATERIALS AND METHODS: We performed an observational, cross-sectional, case-control study including 24 participants (12 patients with focal hand dystonia and 12 controls). The patients were referred by the neurology department of Hospital Ramón y Cajal. We gathered sociodemographic data, as well as retrospective clinical data for patients. We subsequently administered evaluation tests, in the following order: Nine-Hole Peg Test (NHPT), Box and Blocks Test (BBT), Purdue Pegboard Test (PPT), and Jebsen-Taylor Test of Hand Function (JTTHF). RESULTS: The study sample included a total of 24 participants, 7 women and 17 men, with a mean age (standard deviation) of 50.79 (14.40) years. In the patient group, neuromuscular involvement or psycho-emotional problems were not detected in half of cases; smaller numbers of patients presented difficulties associated with the right shoulder (25%) and anxious state (33.3%). CONCLUSIONS: Our results indicate that focal hand dystonia affects manipulative dexterity in these patients, who showed poorer performance and required more time to complete the tasks.

Sensibilidad y dolor en distonías focales de la mano / Sensitivity and pain in focal dystonia of the hand

Introducción: Considerando las evidencias acumuladas actualmente es importante estudiar la fisiopatología tanto sensorial como motora de las distonías focales para comprenderlas y mejorar su tratamiento. Por ello, los objetivos del presente estudio son evaluar las aferencias somatosensoriales de los pacientes con distonía focal o segmentaria con afectación del miembro superior, comprobar si se corresponde con la mano de más uso, analizar la tolerancia al dolor y examinar la posible relación con la percepción del dolor en los pacientes con distonía segmentaria de la mano.MétodosSe contó con una muestra total de 24 participantes: 12 pacientes con distonía focal de la mano y 12 sujetos sin distonía. Todos ellos fueron evaluados con un algómetro electrónico (Somedic AB®, Farsta, Suecia), con los monofilamentos de Semmes-Weinstein y con la escala visual analógica.ResultadosLos datos hallados muestran, en la población estudiada, una mayor afectación en la sensibilidad superficial comparada con el grupo control, tanto en la mano dominante como en la no dominante, así como presencia de dolor (p > 0,001). Además, el grupo de distonía focal obtuvo una correlación negativa entre el dolor percibido y en el umbral de tolerancia de dolor a la presión (rho = −0,83; p < 0,001).ConclusionesLas personas con distonía segmentaria de la mano presentan una alteración en la sensibilidad y manifiestan mayor dolor percibido que las personas sin distonía. Se requieren más estudios con una muestra mayor que detecten las implicaciones clínicas y cotidianas, tanto del dolor objetivo como subjetivo. (AU)

Introduction: A growing body of evidence highlights the importance of understanding both the sensory and the motor pathophysiology of focal dystonia in order to improve its treatment. This study aims to evaluate somatosensory afferences in patients with focal or segmental dystonia affecting the upper limbs, to analyse whether the dominant limb is more frequently affected, to analyse pain tolerance, and to examine the potential association with pain perception in patients with hand dystonia.MethodsWe recruited 24 participants: 12 patients with focal hand dystonia and 12 individuals without dystonia. All participants were evaluated with a digital algometer (Somedic SenseLab AB®, Farsta, Sweden), a Semmes-Weinstein monofilament test, and the visual analogue scale for pain.ResultsAccording to our data, patients showed greater impairment in surface sensitivity than controls, both in the dominant and the non-dominant hands, as well as greater presence of pain (P > .001). Furthermore, the dystonia group showed a negative correlation between perceived pain and pressure pain tolerance threshold (rho = −0.83; P < .001).ConclusionsPatients with focal hand dystonia presented alterations in sensitivity and more severe perceived pain than individuals without dystonia. Future studies with larger samples should aim to analyse the clinical implications and everyday impact of both objective and subjective pain. (AU)

Hemidistonía y hemicorea en un paciente pediátrico con déficit del transportador de glucosa de tipo 1 / Hemidystonia and hemichorea in a pediatric patient with glucose transporter type 1 deficiency

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.

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso / Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

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.

Estimulación cerebral profunda del globo pálido interno en el síndrome de distonía mioclónica: serie de 3 casos y revisión de la literatura / Deep brain stimulation of the internal globus pallidus in myoclonus-dystonia syndrome: a case series and review of the literature

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.

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.

Verification of proper exercise for preventing iatrogenic stroke / Avaliação de atividades físicas apropriadas para a prevenção de acidentes vasculares cerebrais iatrogênicos / Evaluación de actividades físicas apropiadas para la prevención de accidentes vasculares cerebrales iatrogénicos

ABSTRACT Introduction: Iatrogenic stroke is a cerebrovascular clinical event. It quickly leads to localized or diffuse brain dysfunction. After the onset, the patient develops motor dysfunction. Objective: To study the effect of evidence-based physical exercise on the physical function and daily life ability of stroke patients with hemiplegia. Results: The performance of the exercise group was better than that of the control group. The difference between the two groups was statistically significant. Conclusion: Systematic evidence-based exercise and effective rehabilitation methods can alleviate the motor dysfunction of stroke patients with hemiplegia. Level of evidence II; Therapeutic studies - investigation of treatment results.

RESUMO Introdução: O acidente vascular cerebral iatrogênico é um evento clínico que, em pouco tempo, leva à disfunção cerebral localizada ou difusa, fazendo com que o paciente desenvolva disfunções motoras. Objetivo: Estudar o efeito de atividade física baseada em evidências sobre a função física de pacientes de AVC com hemiplegia sobre sua capacidade de executar suas atividades da vida diária. Método: 160 pacientes com AVC iatrogênico foram selecionados e separados aleatoriamente em grupos. O grupo Exercício recebeu treino reabilitativo, além de terapia medicamentosa convencional básica, enquanto o grupo Controle recebeu apenas terapia medicamentosa. Em seguida, os efeitos da reabilitação foram avaliados. Resultados: A performance do grupo Exercício foi melhor que a do grupo Controle. A diferença entre os dois grupos foi estatisticamente significativa. Conclusão: Atividade física sistemática e baseada em evidências e métodos de reabilitação eficientes podem aliviar a disfunção motora de pacientes de AVC com hemiplegia. Nível de evidência II; Estudos terapêuticos - investigação do resultado de tratamentos.

RESUMEN Introducción: El accidente vascular cerebral iatrogénico es un evento clínico que, en poco tiempo, ocasiona disfunción cerebral localizada o difusa, haciendo que el paciente desarrolle disfunciones motoras. Objetivo: Estudiar el efecto de actividad física basada en evidencias sobre la función física de pacientes de ACV con hemiplejia sobre su capacidad de ejecutar sus actividades de vida diaria. Método: Fueron seleccionados y separados aleatoriamente en grupos 160 pacientes con ACV iatrogénico. El grupo Ejercicio recibió entrenamiento de rehabilitación, además de terapia medicamentosa convencional básica, mientras que el grupo Control recibió solo terapia medicamentosa. A continuación, los efectos de la rehabilitación fueron evaluados. Resultados: El rendimiento del grupo Ejercicio fue mejor que la del grupo Control. La diferencia entre los dos grupos fue estadísticamente significativa. Conclusión: Actividad física sistemática y basada en evidencias y métodos de rehabilitación eficientes pueden aliviar la disfunción motora de pacientes de ACV con hemiplejia. Nivel de evidencia II; Estudios terapéuticos - investigación del resultado de tratamientos.

Trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia / Transient benign paroxysmal movement disorders in infancy

Introducción: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia engloban un grupo de trastornos que aparecen durante el período neonatal y en los primeros años de vida, y que desaparecen espontáneamente sin dejar secuelas. El objetivo de este artículo fue revisar los principales trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia, centrándose principalmente en el enfoque utilizado para su reconocimiento y diagnóstico. Desarrollo: En general, estos trastornos presentan entidades como temblores, mioclonías neonatales benignas del sueño, estremecimientos, mioclonías benignas de la infancia temprana, distonía transitoria idiopática del lactante, espasmo nutans, desviación tónica paroxística de la mirada hacia arriba en la infancia y tortícolis paroxística benigna. Conclusiones: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio son episodios paroxísticos no epilépticos, cuyo diagnóstico es eminentemente clínico. Es crucial reconocer correctamente estas entidades para evitar los estados de ansiedad y la necesidad de realizar exámenes complementarios y tratamientos innecesarios.(AU)

Introduction: Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach. Development: Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis. Conclusion: Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.(AU)

Sensitivity and pain in focal dystonia of the hand.

INTRODUCTION: A growing body of evidence highlights the importance of understanding both the sensory and the motor pathophysiology of focal dystonia in order to improve its treatment. This study aims to evaluate somatosensory afferences in patients with focal or segmental dystonia affecting the upper limbs, to analyse whether the dominant limb is more frequently affected, to analyse pain tolerance, and to examine the potential association with pain perception in patients with hand dystonia. METHODS: We recruited 24 participants: 12 patients with focal hand dystonia and 12 individuals without dystonia. All participants were evaluated with a digital algometer (Somedic SenseLab AB®, Farsta, Sweden), a Semmes-Weinstein monofilament test, and the visual analogue scale for pain. RESULTS: According to our data, patients showed greater impairment in surface sensitivity than controls, both in the dominant and the non-dominant hands, as well as greater presence of pain (P > .001). Furthermore, the dystonia group showed a negative correlation between perceived pain and pressure pain tolerance threshold (rho = -0.83; P < .001). CONCLUSIONS: Patients with focal hand dystonia presented alterations in sensitivity and more severe perceived pain than individuals without dystonia. Future studies with larger samples should aim to analyse the clinical implications and everyday impact of both objective and subjective pain.

Aplicación de toxina botulínica en el tratamiento de la distonía. Experiencia en un hospital de tercer nivel / Application of botulinum toxin in the treatment of dystonia. Experience in a tertiary hospital

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<0,05); además, la percepción de síntomas por parte del paciente tuvo una mejoría del 83,75% (p<0,05) y la apreciación de resultados por parte del fisiatra fue del 88,39% (p=0,157). Conclusiones. La toxina botulínica en el manejo de la distonía en la población de estudio mostró ser un tratamiento seguro y eficaz, esto posterior a varios ciclos de aplicación.

Introduction. Dystonia is a movement disorder that causes functional impairment to those who suffer from it; the application of botulinum toxin is the treatment of choice due to its safety. Objective. To describe the clinical results of the long-term use of botulinum toxin in a group of patients with a diagnosis of dystonia treated in a third level hospital in Bogota, Colombia. Methods. Observational study. The clinical histories of patients with a diagnosis of dystonia attended at the spasticity and dystonia clinic of a health institution were reviewed. Pain was evaluated with the visual analog scale (VAS) and the perception of symptom improvement (recovery of mobility arcs and reduction of involuntary movements); in addition, the specialist who performed the application of botulinum toxin analyzed the behavior of these variables over time. Results. Twenty-eight patients were included, the most frequent type of dystonia was cervical (75%) and the average treatment time was 4.95 years (SD=2.89). A pain reduction of 79.32% was found, which was maintained over time (p<0.05); in addition, the perception of symptoms by the patient had an improvement of 83.75% (p<0.05) and the appreciation of results by the physiatrist was 88.39% (p=0.157).

Tormenta distónica en psiquiatría de enlace: a propósito de un caso / Dystonic storm in consultation-liaison psychiatry

RESUMEN Las distonías son trastornos del movimiento caracterizados por contracciones musculares sostenidas que producen movimientos repetitivos de torsión o posturas anormales. Pueden clasificarse según la etiología como primarias (formas idiopáticas y genéticas) o secundarias. La presentación asociada con episodios generalizados, intensos y con exacerbación de contracturas musculares intensas que suelen ser refractarias a la farmacoterapia tradicional se conoce como status distónico o tormenta distónica. Se presenta el caso de un paciente de 33 arios, con antecedente de sordera congénita, trastorno por consumo de sustancias psicoactivas y tratamiento psicofarmacológico con antipsicóticos, que presentó un cuadro distónico grave que evolucionó a un status distónico.

ABSTRACT Dystonia is a movement disorder characterised by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. It can be classified according to the aetiology as primary (idiopathic and genetic forms), or secondary. The presentation associated with generalised, intense episodes and with exacerbation of severe muscle contractures and usually refractory to traditional pharmacotherapy is known as dystonic status or dystonic storm. In the present article, a case is presented of a 33-year-old patient with a history of congenital deafness, stimulant use disorder and on psychopharmacological treatment with antipsychotics, who presented with a severe dystonic reaction that evolved to a status dystonicus.

Dystonic storm in consultation-liaison psychiatry.

Dystonia is a movement disorder characterised by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. It can be classified according to the aetiology as primary (idiopathic and genetic forms), or secondary. The presentation associated with generalised, intense episodes and with exacerbation of severe muscle contractures and usually refractory to traditional pharmacotherapy is known as dystonic status or dystonic storm. In the present article, a case is presented of a 33-year-old patient with a history of congenital deafness, stimulant use disorder and on psychopharmacological treatment with antipsychotics, who presented with a severe dystonic reaction that evolved to a status dystonicus.

Rehabilitación de la distonía focal de mano en músicos: una revisión sistemática de los estudios / Rehabilitation of focal hand dystonia in musicians: a systematic review of the studies

Introducción: La distonía focal de la mano en los músicos es un trastorno del movimiento relacionado con una tarea específica, que se caracteriza por una pérdida involuntaria del control y la coordinación de los movimientos de los dedos al tocar un instrumento. Materiales y métodos: Se llevaron a cabo búsquedas bibliográficas con las palabras clave 'dystonia' (distonía) Y 'musician' (músico) Y 'finger' (dedo) O 'treatment' (tratamiento) O 'therapy' (terapia) O 'rehabilitation' (rehabilitación) en PubMed, EMBASE, Cochrane Library y Web of Science para realizar la revisión sistemática sobre las diversas estrategias usadas para tratar la distonía en los músicos. La búsqueda se realizó de forma independiente por dos autores (R.C. y M.V.) entre el 6 de abril de 2020 y el 6 de junio del mismo año. La investigación identificó un total de 423 artículos. Los encargados de la revisión analizaron 77 artículos que fueron previamente seleccionados. Treinta y seis publicaciones cumplieron con los criterios de inclusión y se incluyeron en la revisión sistemática. Resultados: La revisión sistemática se realizó para identificar los principales tratamientos utilizados para la distonía en músicos. Se definieron las diversas técnicas existentes para orientar mejor a los médicos a la hora de diseñar un protocolo de rehabilitación que adopte las mejores estrategias descritas en la bibliografía actual. Conclusión: Esta revisión sistemática intenta proporcionar al lector una mirada completa sobre todos los posibles tratamientos diferentes para la distonía en los músicos. Un protocolo correcto podría permitir mejorar el rendimiento motor y la calidad de vida de los músicos.(AU)

Introduction: Focal hand dystonia in musicians is a task-specific movement disorder characterized by an involuntary loss of control and coordination of finger movements during instrumental playing. Materials and methods: Literature searches with the keywords ‘dystonia’ AND ‘musician’ AND ‘finger’ OR ‘treatment’ OR ‘therapy’ OR ‘rehabilitation’ were conducted in PubMed, EMBASE, Cochrane Library and Web of Science to perform the systematic review about the several strategies used to treat dystonia in musicians. The search was performed independently by two authors (R.C. and M.V.) from 6 April 2020 till 6 June 2020. The research identified a total of 423 articles. Seventy-seven selected articles were analysed by the reviewers. Thirty-six publications met the inclusion criteria and were included in the systematic review. Results: The systematic review was performed to identify the main used treatments for dystonia in musicians. We defined the several techniques to better guide the physician to delineate a rehabilitation protocol adopting the better strategies described in the current literature. Conclusion: This systematic review tried to provide to the reader a complete overview of the literature of all possible different treatments for dystonia in musicians. A correct protocol could permit to improve the motor performance and the quality of life of musicians.(AU)

Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. / Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2.

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.

[Neurological pathology by liposoluble vitamin-related disorders]. / Patología neurológica por desequilibrio de vitaminas liposolubles.

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.

INTRODUCCIÓN: Introducción: en la práctica clínica hospitalaria nos enfrentamos a algunas patologías que tienen origen nutricional. Aunque rara vez, las alteraciones vitamínicas pueden desencadenar trastornos neurológicos graves. Objetivos: mostrar los síntomas neurológicos que pueden darse por alteraciones en los niveles de las vitaminas liposolubles, centrándonos en las vitaminas E y A, mediante la exposición de dos casos clínicos. Conclusiones: es importante tener en mente las alteraciones de vitaminas liposolubles como origen de un trastorno neurológico, a pesar de su escasa frecuencia, habiendo descartado primero las causas más probables.