[Focal dystonia in musicians: Phenomenology and musical triggering factors]. / Distonía del músico: fenomenología y desencadenantes vinculados a la ejecución musical.

Dystonias are defined as a joint sustained and involuntary contraction of agonist and antagonist muscles, which can cause torsion, repetitive abnormal involuntary movements, and/or abnormal postures. One special group of dystonias are those known as occupational, which include dystonia disorders triggered by a repetitive motor activity associated with a specific professional activity or task. Musicians are a population particularly vulnerable to these types of dystonia, which are presented as a loss of coordination and voluntary motor control movements highly trained in musical interpretation. Our aim is to describe a clinical series of focal dystonias in musicians evaluated and treated in our centre. PATIENTS AND METHODS: Data is presented on a clinical series of 12 musicians with occupational dystonia. Their history and phenomenology are described, as well as well as their outcome after therapy. RESULTS: Demographic details: Mean age 34.8 ± 11.8 years, 10 males (83.3%) and 2 females (16.7%). CLINICAL HISTORY: History of trauma in dystonic segment, 6 patients (50%); family history of neurological diseases in first-degree relatives, 6 patients (50%); occupational history according to music category, 8 patients (66.6%) were classical musicians and 4 patients (33.3%) were popular musicians. PHENOMENOLOGY: The dystonia syndrome was characterised by having a mean age of onset of 28.2 ± 11.3 years (range 18-57 years). The segment affected was the hand (91.7%) in 11 patients. Of all the musicians seen in the clinic, 9 of them (75%) received therapy. The majority of patients appeared to have triggering factors specific to musical execution and linked to the requirement of fine motor control. It should be mentioned that 50% of the musicians treated maintained their professional activity or position in the orchestra to which they belonged. CONCLUSIONS: The majority of our phenomenological findings are consistent with those reported in the current literature. However, it is worth mentioning the presence of triggering factors attributed to the specific requirements of performing music, linked to the participation of fine motor control.

Evaluation of the efficacy of deep brain stimulation in the surgical treatment of cervical dystonia.

OBJECTIVE: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a promising therapeutic option for patients with medically refractory dystonia. We present the results after 1 year of DBS of the GPi in 4 patients with cervical dystonia. MATERIALS AND METHODS: Four patients with medically refractory cervical dystonia who underwent stereotactic pallidal DBS surgery between June 2010 and November 2011 were included in this retrospective study. Preoperative and postoperative evaluations at 3, 6 and 12 months after surgery were performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). RESULTS: The 4 patients experienced a sustained improvement, with a mean TWSTRS reduction of 74.25%, at 12 months follow-up. Disability improved by 80.5% (mean) at 1 year follow-up. No stimulation-related side effects were reported. CONCLUSION: Pallidal DBS is a valid and effective second-line treatment for patients with cervical focal dystonia. Our results support its use in patients with an insufficient response to medical treatment.

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

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

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.

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.

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.

[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.

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.

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.

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

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.

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

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.

Dystonic Storm in Consultation-Liaison Psychiatry. / Tormenta distónica en psiquiatría de enlace: a propósito de un caso.

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.

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.

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.

Background: Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder. Case report: We present a Mexican patient with abnormal movements referred to the Genetics clinic because of hyperammonemia and a possible organic acidemia. Our assessment did not find clinical features compatible with an inborn error of metabolism. A massively parallel sequencing approach with targeted panel sequencing was used to get a final diagnosis. A missense variant c.2839G>A (p.Gly947Arg) located at exon 21 of ATP1A3 gene was demonstrated. This variant (rs398122887) has been previously reported as de novo producing alternating hemiplegia of childhood (AHC). Conclusions: AHC is an ultra-rare syndrome presented as a movement disorder with seizure-like episodes and a unique facial phenotype. Clinicians should be aware of this combination in order to diagnose this condition in a timely manner. Massive parallel sequencing panels are emerging as the best approach to diagnose rare movement disorders and simultaneously rule out metabolic disorders and common epileptic syndromes.

Introducción: Los trastornos pediátricos del movimiento representan un reto diagnóstico para pediatras y neurólogos pediatras debido a su gran heterogeneidad clínica y características comunes compartidas. Por lo tanto, los diagnósticos específicos requieren de diferentes abordajes que incluyen la búsqueda de desórdenes metabólicos y pruebas específicas para condiciones genéticas frecuentes. La hemiplejia alternante de la infancia (AHC) es un trastorno pediátrico del movimiento poco común, caracterizado por cuadros paroxísticos de hemiplejia alternante, distonía y episodios semejantes a crisis epilépticas, que pueden resultar desorientadores durante el abordaje diagnóstico de un infante con un desorden del movimiento. Caso clínico: Presentamos una paciente mexicana con movimientos anormales referida a la Clínica de Genética por hiperamonemia y una posible acidemia orgánica. Nuestro abordaje no identificó características clínicas compatibles con un error innato del metabolismo. Se utilizó un abordaje basado en secuenciación masiva en paralelo para obtener un diagnóstico final. Se demostró una variante de sentido equivocado c.2839G>A (p.Gly947Arg) localizada en el exón 21 del gen ATP1A3. Esta variante (rs398122887) ha sido previamente reportada como de novo, ocasionando AHC. Conclusiones: La AHC es un síndrome excepcionalmente raro que se presenta con un trastorno del movimiento con cuadros semejantes a crisis epilépticas y un fenotipo facial particular. Los médicos deben ser conscientes de esta combinación con el fin de diagnosticar oportunamente esta condición. Los paneles de secuenciación masiva están emergiendo como el mejor abordaje para diagnosticar trastornos del movimiento raros y, simultáneamente, descartar trastornos metabólicos y síndromes epilépticos comunes.

Effects of onabotulinum toxin type A injections in patients with Meige's syndrome / Efeitos da aplicação de toxina onabotulínica do tipo A em pacientes com síndrome de Meige

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

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

François Rabelais and his dystonic giants / François Rabelais e seus gigantes distônicos

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

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

Oromandibular dystonia as a cause of temporomandibular disorder (Case report) / Distonia oromandibular como causa de disfunção temporomandibular (Relato de caso)

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

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

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.

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.

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).