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

Las distonías se definen como una contracción conjunta, sostenida e involuntaria de músculos agonistas y antagonistas, que puede causar torsión, movimientos involuntarios anormales repetitivos y/o posturas anormales. Un grupo especial de distonías son las conocidas como ocupacionales, que incluyen trastornos distónicos desencadenados por una actividad motora repetitiva, relacionada con la actividad profesional o tarea específica. Los músicos son una población especialmente vulnerable a este tipo de distonías que se presentan como una pérdida de coordinación y control motor voluntario de movimientos altamente entrenados en la interpretación musical. Nuestro objetivo es describir una serie clínica de distonías focales en músicos evaluados y tratados en nuestro centro. Pacientes y métodos: Se presentan los datos de una serie clínica de 12 músicos con distonía ocupacional; se describen sus antecedentes y fenomenología, así como su evolución después de de la terapia. Resultados: Antecedentes demográficos: edad promedio 34,8 ± 11,8 años, 10 hombres (83,3%) y 2 mujeres (16,7%). Antecedentes médicos: antecedentes traumáticos en segmento distónico, 6 pacientes (50%); antecedentes familiares de enfermedades neurológicas en parientes de primer grado, 6 pacientes (50%); antecedentes laborales según categoría musical, 8 pacientes (66,6%) eran músicos clásicos y 4 pacientes (33,3%) eran músicos populares. Fenomenología: El cuadro distónico se caracterizó por presentarse a una edad promedio de inicio de 28,2 ± 11,3 años (rango 18-57 años). En 11 pacientes el segmento afectado fue la mano (91,7%). De todos los músicos consultados, un total de 9 (75%) recibió terapia. En la mayoría de los pacientes se describen desencadenantes específicos de la ejecución musical, asociados a requerimientos de control motor fino. Cabe mencionar que el 50% de los músicos tratados mantuvo su actividad laboral o puesto en la orquesta a la que pertenecía. Conclusiones: La mayoría de nuestros hallazgos fenomenológicos son coherentes con la literatura actualmente disponible. Sin embargo, nos parece destacable la presencia de desencadenantes atribuibles a requerimientos específicos de la ejecución musical, ligados a la participación del control motor fino

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 11patients. 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

[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.

Distonía focales en los músicos / Focal dystonia in musicians

Introducción: Un grupo especial de distonía focal son las conocidas como ocupacionales, las que incluyen trastornos distónicos desencadenados por una actividad motora repetitiva, íntimamente relacionada con la actividad profesional o tarea específica que realiza el afectado. En este sentido los músicos son una población especialmente vulnerable a esta patología, que se presenta durante la ejecución de movimientos altamente entrenados. Objetivo: En este manuscrito se revisa la fisiopatología y sus implicancias terapéuticas.Desarrollo: Las bases fisiopatológicas de la distonía focal del músico aún no se conocen completamente. Sin embargo, gracias al aporte de estudios neurofisiológicos y de neuroimágenes funcionales, existe creciente evidencia de alteraciones en el procesamiento de información sensorial, integración sensorio-motora, procesos corticales y subcorticales de inhibición, que subyacen a esta patología.Desarrollo: Clínicamente, se caracteriza por aparición de contracción muscular involuntaria y se asocia a pérdida del control motor durante la ejecución musical. Es de aparición gradual y ocasionalmente pueden existir antecedentes de lesiones musculoesqueléticas o posturas no fisiológicas que anteceden la aparición de los síntomas. El examen neurológico es usualmente normal, aunque pueden desarrollarse posturas distónicas sutiles espontáneamente o con movimientos que involucran los segmentos afectados. La distonía permanece focal y no se generaliza.Conclusiones: El tratamiento se basa en la utilización de múltiples estrategias para el manejo de la distonía, con resultado variables. Si bien no se ha definido una terapia especifica, existen principios generales que se combinan en cada situación buscando obtener resultados. Esto incluye intervenciones desde una perspectiva farmacológica, manejo con toxina botulínica, técnicas de reentrenamiento sensorial, entre otras (AU)

Introduction: A special group of focal dystonia is that known as occupational, which include dystonic disorders triggered by repetitive motor activity, closely associated with the professional activity of a specific task that the affected person performs. In this sense, musicians are a population particularly vulnerable to this disorder, which is presented during the execution of highly trained movements. Objective: This article reviews the pathophysiology of focal dystonia and its therapeutic implications. Development: The pathophysiological basis of focal dystonia in the musician is still not well established. However, due to the contribution of neurophysiological studies and functional neuroimaging, there is growing evidence of anomalies in the processing of sensory information, sensory-motor integration, cortical and subcortical inhibitory processes, which underline this disease. Development: Clinically, it is characterised by the appearance of involuntary muscle contractions, and is associated with loss of motor control while practicing music. It is a gradual appearance and sometimes there may be a history of musculoskeletal injuries or non-physiological postures preceding the appearance of the symptoms. The neurological examination is usually normal, although subtle dystonic postures can develop spontaneously or with movements that involve the affected segments. The dystonia remains focal and is not generalised. Conclussions: Treatment is based on using multiple strategies for the management of the dystonia, with variable results. Although a specific therapy has not been defined, there are general principles that are combined in each situation looking for results. This includes, among others, pharmacological interventions, management with botulinum toxin, and sensory re-training techniques (AU)

Focal dystonia in musicians.

INTRODUCTION: A special group of focal dystonia is that known as occupational, which include dystonic disorders triggered by repetitive motor activity, closely associated with the professional activity of a specific task that the affected person performs. In this sense, musicians are a population particularly vulnerable to this disorder, which is presented during the execution of highly trained movements. OBJECTIVE: This article reviews the pathophysiology of focal dystonia and its therapeutic implications. DEVELOPMENT: The pathophysiological basis of focal dystonia in the musician is still not well established. However, due to the contribution of neurophysiological studies and functional neuroimaging, there is growing evidence of anomalies in the processing of sensory information, sensory-motor integration, cortical and subcortical inhibitory processes, which underline this disease. Clinically, it is characterised by the appearance of involuntary muscle contractions, and is associated with loss of motor control while practicing music. It is a gradual appearance and sometimes there may be a history of musculoskeletal injuries or non-physiological postures preceding the appearance of the symptoms. The neurological examination is usually normal, although subtle dystonic postures can develop spontaneously or with movements that involve the affected segments. The dystonia remains focal and is not generalised. CONCLUSIONS: Treatment is based on using multiple strategies for the management of the dystonia, with variable results. Although a specific therapy has not been defined, there are general principles that are combined in each situation looking for results. This includes, among others, pharmacological interventions, management with botulinum toxin, and sensory re-training techniques.

[Risk factors associated to the presentation of episodes of major depression in a population of outpatients with Parkinson's disease]. / Factores de riesgo asociados con la presentación de episodios depresivos mayores en una población ambulatoria de pacientes con enfermedad de Parkinson.

INTRODUCTION: Depression is a frequently occurring problem in Parkinson's disease (PD). The purpose of this study is to describe the characteristics of episodes of major depression (EMD) in a population of outpatients with PD and the risk factors linked to their appearance. PATIENTS AND METHODS: We conducted an open study involving 85 patients with PD; their mean age was 65.8 +/- 12.3 years and the mean length of time since disease onset was 7.2 +/- 5 years. Data that was collected included information from the patient record, evaluation with the Motor Examination section of the Unified PD Rating Scale (UPDRS-III), the Parkinson Mini-Mental test, the Neuropsychiatric Inventory (NPI) and the short version of Beck's Depression Inventory (BDI). EMD were diagnosed clinically by means of a semi-structured interview that allowed us to examine the symptoms that are included in the DSM-IV criteria for diagnosis of EMD. RESULTS: In 21 cases (24.7%) DSM-IV criteria for EMD were satisfied, with a BDI score (mean +/- standard deviation) of 17.5 +/- 6.2. In 64 cases (75.3%) who did not fulfil the criteria for EMD, the BDI score was 6.4 +/- 4.7 (p < 0.001). The items on the UPDRS-III related to the dopaminergic response in patients with EMD were 24.9 +/- 11.9 and in patients without EMD the values were 21.2 +/- 10.9 (NS). Those not related to the dopaminergic response in patients with EMD were 9.9 +/- 5.3 and in those without EMD the values were 6.2 +/- 4.6 (p < 0.001). CONCLUSION: In our sample, the presence of motor symptoms that do not respond to levodopa in patients with PD is a risk factor for the appearance of EMD.

Factores de riesgo asociados con la presentación de episodios depresivos mayores en una población ambulatoria de pacientes con enfermedad de Parkinson / Risk factors associated to the presentation of episodes of major depression in a population of outpatients with parkinson’s disease

Introducción. La depresión es un problema frecuente en la enfermedad de Parkinson (EP). El objetivo de este estudio es describirlas características de los episodios depresivos mayores (EDM) en una población ambulatoria de pacientes con EP y los factores de riesgo asociados con su aparición. Pacientes y métodos. En un estudio abierto se reclutaron 85 pacientes con EP, edad media 65,8± 12,3 años y tiempo medio de evolución de la enfermedad 7,2 ± 5años. Se obtuvo historia clínica, evaluación con escala unificada para la EP sección motora (UPDRS-III), test minimental de Parkinson, inventario neuropsiquiátrico (NPI) e inventario para la depresión de Beck (IDB) versión corta. El diagnóstico de EDM se realizó clínicamente mediante una entrevista semiestructurada en la que se exploraron los síntomas incluidos en los criterios DSM-IV. Resultados. En 21 casos (24,7%) se cumplían los criterios DSM-IV para un EDM, con un IDB (media ± DE) de 17,5 ± 6,2. En 64 casos (75,3%)que no cumplían con los criterios para un EDM, el IDB fue de 6,4 ±4,7 (p < 0,001). Los ítems de la UPDRS-III relacionados con la respuestado paminérgica en los pacientes con EDM fueron de 24,9 ±11,9, y en los pacientes sin EDM, de 21,2 ± 10,9 (no significativo).Los no relacionados con la respuesta dopaminérgica en los pacientes con EDM fueron de 9,9 ± 5,3, y sin EDM, 6,2 ± 4,6 (p < 0,001).Conclusión. En nuestra muestra, la presencia de síntomas motores que no responden a levo dopa en pacientes con EP es un factor de riesgo para la aparición de un EDM (AU)

Introduction. Depression is a frequently occurring problem in Parkinson’s disease (PD). The purpose of this study is to describe the characteristics of episodes of major depression (EMD) in a population of outpatients with PD and the risk factors linked to their appearance. Patients and methods. We conducted an open study involving 85 patients with PD; their mean age was 65.8 ± 12.3 years and the mean length of time since disease onset was 7.2 ± 5 years. Data that was collected included information from the patient record, evaluation with the Motor Examination section of the Unified PD Rating Scale(UPDRS-III), the Parkinson Mini-Mental test, the Neuropsychiatric Inventory (NPI) and the short version of Beck's Depression Inventory (BDI). EMD were diagnosed clinically by means of a semi-structured interview that allowed us to examine the symptoms that are included in the DSM-IV criteria for diagnosis of EMD. Results. In 21 cases (24.7%) DSM-IV criteria for EMD were satisfied, with a BDI score (mean ± standard deviation) of 17.5 ± 6.2. In 64 cases (75.3%) who did not fulfil the criteria for EMD, the BDI score was 6.4 ± 4.7 (p < 0.001). The items on the UPDRS-III related to the dopaminergic response in patients with EMD were 24.9 ± 11.9 and in patients without EMD the values were 21.2 ± 10.9 (NS). Those not related to the dopaminergic response in patients with EMD were 9.9 ± 5.3 and in those without EMD the values were 6.2 ± 4.6(p < 0.001). Conclusion. In our sample, the presence of motor symptoms that do not respond to levodopa in patients with PD is a risk factor for the appearance of EMD (AU)

[Pediatric AIDS: characteristics of 17 Dominican cases]. / SIDA pediatrico: caracteristicas a proposito de 17 casos dominicanos.

PIP: During 1985 and December 1990 children referred to hospitals with HIV infection were subjected to a protocol previously established to determine HIV antibodies by ELISA and Western Blot methods. Children under 15 months of age underwent repeated tests to preclude the transfer of maternal antibodies. In this group only children with more than 6 months of follow-up were included. 17 cases were studied: 6 were children under 15 months of age, 8 were between 15 months and 5 years, and 3 were between 5 years and 15 years. 12 children originated from urban areas, 3 from rural areas, and 2 were foreigners. The clinical symptoms started in the first year of life in 8 cases, between 1 and 3 years in 7 cases, and after 5 years of age in 2 cases. HIV transmission was vertical in 8 cases, via blood transfusion in 2 cases, and in 7 cases the route of transmission could not be confirmed. The follow-up lasted 6 months for 5 cases; 18 months for 5 cases; 2 years for 4 cases; and 3.5 years for 3 cases. The clinical signs were predominantly: cutaneous lesions in 10 of the 17 cases, diarrheal disease in 7, fever in 6, malnutrition in 6, as well as hypertrophy, oral moniliasis, sepsis, esophageal candidiasis, otitis, and varicella in different patients. According to CDC classification, 9 cases corresponded to class P-1 (one of them with elevated immune function and the other with normal immune function); 6 corresponded to pediatric class P-2 (2 to subclass A, 2 to subclass D, and 2 to subclass D-2). 6 children died: 4 due to meningitis and sepsis, 1 due to varicella, and 1 due to malnutrition, sepsis, and esophageal candidiasis.^ieng