RESUMEN
Stiff-person syndrome (SPS) is a rare neurological condition that frequently affects adults, with the neurologist diagnosing only one or two cases during his or her career. Reports of paediatric SPS are exceedingly rare, with less than 20 cases described in the literature.The patient presented was initially diagnosed with a functional movement disorder then a genetic dystonia, with a poor response to treatment trials and negative genetic testing. Consideration of Wilson's disease was refuted with non-supportive investigations and assessments.We aim to present the long road to diagnosing our first paediatric patient with SPS, who presented in middle childhood.
Asunto(s)
Distonía , Trastornos Distónicos , Degeneración Hepatolenticular , Síndrome de la Persona Rígida , Masculino , Adulto , Femenino , Humanos , Niño , Síndrome de la Persona Rígida/diagnóstico , Distonía/diagnóstico , Distonía/etiología , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/etiologíaRESUMEN
BACKGROUND: Dystonia is associated with disabling nonmotor symptoms like chronic pain (CP), which is prevalent in dystonia and significantly impacts the quality of life (QoL). There is no validated tool for assessing CP in dystonia, which substantially hampers pain management. OBJECTIVE: The aim was to develop a CP classification and scoring system for dystonia. METHODS: A multidisciplinary group was established to develop the Dystonia-Pain Classification System (Dystonia-PCS). The classification of CP as related or unrelated to dystonia was followed by the assessment of pain severity score, encompassing pain intensity, frequency, and impact on daily living. Then, consecutive patients with inherited/idiopathic dystonia of different spatial distribution were recruited in a cross-sectional multicenter validation study. Dystonia-PCS was compared to validated pain, mood, QoL, and dystonia scales (Brief Pain Inventory, Douleur Neuropathique-4 questionnaire, European QoL-5 Dimensions-3 Level Version, and Burke-Fahn-Marsden Dystonia Rating Scale). RESULTS: CP was present in 81 of 123 recruited patients, being directly related to dystonia in 82.7%, aggravated by dystonia in 8.8%, and nonrelated to dystonia in 7.5%. Dystonia-PCS had excellent intra-rater (Intraclass Correlation Coefficient - ICC: 0.941) and inter-rater (ICC: 0.867) reliability. In addition, pain severity score correlated with European QoL-5 Dimensions-3 Level Version's pain subscore (r = 0.635, P < 0.001) and the Brief Pain Inventory's severity and interference scores (r = 0.553, P < 0.001 and r = 0.609, P < 0.001, respectively). CONCLUSIONS: Dystonia-PCS is a reliable tool to categorize and quantify CP impact in dystonia and will help improve clinical trial design and management of CP in patients affected by this disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Asunto(s)
Distonía , Trastornos Distónicos , Trastornos del Movimiento , Humanos , Distonía/diagnóstico , Distonía/complicaciones , Calidad de Vida , Estudios Transversales , Reproducibilidad de los Resultados , Índice de Severidad de la Enfermedad , Trastornos Distónicos/complicaciones , Trastornos Distónicos/diagnóstico , Trastornos del Movimiento/complicaciones , DolorRESUMEN
Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy. Discussion: Paroxysmal worsening of movement disorders should be suspected as part of the ATP1A3 spectrum. Treatment outcome might be predicted based on the phenotype.
Asunto(s)
Trastornos Distónicos/diagnóstico , Trastornos Distónicos/genética , Variación Genética/genética , ATPasa Intercambiadora de Sodio-Potasio/genética , Gemelos Monocigóticos/genética , Trastornos Distónicos/fisiopatología , Electroencefalografía/métodos , Humanos , Masculino , Adulto JovenAsunto(s)
Hospitales Especializados , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/terapia , Adulto , Anciano , Anciano de 80 o más Años , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/epidemiología , Trastornos Distónicos/terapia , Femenino , Honduras/epidemiología , Hospitales Especializados/organización & administración , Hospitales Especializados/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/epidemiología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/terapiaAsunto(s)
Trastornos Distónicos/diagnóstico , Trastornos Distónicos/etiología , Enfermedad de Machado-Joseph/complicaciones , Enfermedad de Machado-Joseph/diagnóstico , Distonía/diagnóstico , Distonía/etiología , Distonía/fisiopatología , Trastornos Distónicos/fisiopatología , Electromiografía/métodos , Humanos , Enfermedad de Machado-Joseph/fisiopatología , Masculino , Persona de Mediana EdadRESUMEN
ABSTRACT Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.
RESUMO A distonia é um distúrbio de movimento relativamente comum e alguns de seus aspectos epidemiológicos e clínicos ainda não foram bem caracterizados em pacientes brasileiros. Além disso, uma nova classificação clínica para o transtorno foi proposta e seu impacto na prática clínica não é claro. Nosso objetivo é descrever as características clínicas e demográficas de uma série brasileira de pacientes com distonia primária, estimar sua prevalência local e explorar o impacto do uso de uma nova classificação para distonia. Foram identificados 289 pacientes com distonia primária (PDYS) durante um período de 12 meses, dos quais 235 foram submetidos a uma avaliação detalhada. Os pacientes com PDYS corresponderam a um sexto de todos os pacientes avaliados no serviço em que o estudo foi realizado, com uma prevalência local estimada de 19,8/100.000 habitantes. As características clínicas e demográficas dos pacientes foram semelhantes àquelas descritas em outros locais, com o blefaroespasmo como distonia focal mais comum e a maioria dos pacientes apresentando truques sensoriais que julgaram úteis no dia-a-dia. A aplicação da nova classificação foi fácil e simples, e a abordagem sistemática permitiu uma melhor caracterização clínica de nossos pacientes. Reconhecemos duas síndromes distônicas que não foram descritas no artigo original que propôs a classificação e suspeitamos que a distinção arbitrária entre distonia generalizada e multifocal parece não ser útil para pacientes com PDYS. Em conclusão, a prevalência e as características clínicas de nossos pacientes não foram distintas de outras amostras e a nova classificação mostrou-se prática e útil para caracterizar pacientes com distonia.
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Trastornos Distónicos/clasificación , Trastornos Distónicos/epidemiología , Blefaroespasmo/epidemiología , Brasil/epidemiología , Prevalencia , Estudios Transversales , Trastornos Distónicos/diagnósticoRESUMEN
TITLE: Sindrome de Pisa asociado a codeina.
Asunto(s)
Codeína/efectos adversos , Trastornos Distónicos/inducido químicamente , Acetaminofén/uso terapéutico , Anciano , Analgésicos/efectos adversos , Analgésicos/uso terapéutico , Dolor de Espalda/tratamiento farmacológico , Dolor de Espalda/etiología , Neoplasias de la Mama/terapia , Carcinoma Lobular/secundario , Codeína/uso terapéutico , Sustitución de Medicamentos , Quimioterapia Combinada , Trastornos Distónicos/diagnóstico , Femenino , Humanos , Ketorolaco/uso terapéutico , Neoplasias de la Columna Vertebral/secundario , SíndromeRESUMEN
Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.
Asunto(s)
Trastornos Distónicos/clasificación , Trastornos Distónicos/epidemiología , Adolescente , Adulto , Anciano , Blefaroespasmo/epidemiología , Brasil/epidemiología , Niño , Preescolar , Estudios Transversales , Trastornos Distónicos/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Adulto JovenRESUMEN
Pallidal stimulation has been the usual surgical treatment for dystonia in the last decades. The continuous investigation of the physiopathology and the motor pathways involved leads to the search for complementary targets to improve results. The authors present the case of a 37-year-old woman who had suffered from idiopathic hemidystonia with hyperkinetic and hypokinetic movements for 11 years, and who was treated with deep brain stimulation. A brief literature review is also provided. The globus pallidus internus and the ventral intermediate/ventral oral posterior complex of the thalamus were stimulated separately and simultaneously for 3 months and compared using the Burke-Fahn-Marsden Dystonia Rating Scale and the Global Dystonia Severity Rating Scale, with a 3.5-year follow-up. The synergism of multiple-target stimulation resulted in a complete improvement of the mixed dystonic symptoms.
Asunto(s)
Estimulación Encefálica Profunda , Trastornos Distónicos/terapia , Globo Pálido/cirugía , Tálamo/cirugía , Adulto , Estimulación Encefálica Profunda/métodos , Trastornos Distónicos/diagnóstico , Femenino , Humanos , Calidad de Vida , Índice de Severidad de la Enfermedad , Tálamo/fisiopatología , Resultado del TratamientoAsunto(s)
Trastornos Distónicos/diagnóstico , Examen Neurológico/métodos , Primidona/uso terapéutico , Temblor/diagnóstico , Temblor/psicología , Adolescente , Diagnóstico Diferencial , Temblor Esencial/diagnóstico , Temblor Esencial/tratamiento farmacológico , Femenino , Humanos , Examen Neurológico/instrumentación , Pronóstico , Medición de Riesgo , Resultado del Tratamiento , Temblor/tratamiento farmacológico , EscrituraRESUMEN
OBJECTIVE: To determine characteristics, clinical significance, frequency, and mimics of restless legs syndrome (RLS) in a cohort of Wilson's disease (WD, n = 42/f = 18), compared to healthy, matched controls. MATERIALS AND METHODS: Structured clinical interviews (patients and caregiving family members), repeated neurological examinations (afternoon and presleep), comprehensive laboratory tests, WD-, RLS-, and sleep-specific rating scales, and video-polysomnography. RESULTS: Thirteen patients with WD (13/42 = 31.0%) clearly fulfilled the five diagnostic criteria of RLS; in eight patients (19.1%), the burden of RLS was clinically significant. The RLS was of moderate severity, equally distributed among sexes, manifested mainly in the evening and before falling asleep, and had developed mostly after clinical manifestation of WD (time elapsed 10.2 ± 14.5 years), still at a young mean age (27.5 ± 11.5 years). The known RLS-associated features were absent (normal iron and kidney parameters) or rare (positive family history, polyneuropathy). Compared to WD patients without RLS, patients with RLS were significantly elder and had suffered longer from WD. WD-specific RLS mimics as well as RLS confounding motor comorbidities (dystonia, tremor, chorea) were frequent and a diagnostic challenge; in difficult cases, the differentiation was reached by clinical observation of the motor behavior in the evening or at nighttime. CONCLUSION: RLS was frequent in this cohort of WD and might be causally related to WD. RLS should be included in the diagnostic work-up of WD. In complex motor disorders, differential diagnosis of RLS might require evening/nighttime examination and video-polysomnography. In WD patients with a clinically significant RLS, treatment with dopaminergic substances may be considered.
Asunto(s)
Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/epidemiología , Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/epidemiología , Adolescente , Adulto , Estudios de Cohortes , Comorbilidad , Diagnóstico Diferencial , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Examen Neurológico/métodos , Polisomnografía/métodos , Sueño/fisiología , Temblor/diagnóstico , Temblor/epidemiología , Adulto JovenRESUMEN
The aim of this report was to describe the Focal dystonia in Musicians. Musician´s dystonia is a disorder characterized by abnormal movements, with excessive activation of muscular antagonists or co-contraction of antagonist muscles that are not required for a specific movement. Belongs to the group of occupational dystonias ; is a specific disorder of a determinated task in musicians, that include the absence of voluntary control of movements detailed determinated in the ejecution of an instrument, and manifiests itself by the deteriorization of his dexterity in the ejecution. Dystonia, including all his forms, is the third more frequent pathology of abnormal movements, after Parkinson´s disease and the essential trembling. Musician´s dystonia is a task-specific movement that manifiests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1 % of all professional musicians develop musician´s dystrofia, and in many cases the disorder terminates the careers of affected musicians. Several theories have been referred related to the etiology. The aim of this report was to present the author´s casuistic of Focal dystonia in musicians in Argentina, considering the type of instrument, which kind of music is ejecuted classic or popular- and to inform the treatment proposed and the results obtained.
Asunto(s)
Humanos , Adulto , Persona de Mediana Edad , Grupo de Atención al Paciente , Factores de Riesgo , Terapia Ocupacional , Terapia Ocupacional/psicología , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/prevención & control , Trastornos Distónicos/terapia , Trastornos Somatosensoriales/rehabilitaciónRESUMEN
ABSTRACT INTRODUCTION: Although syndromes that cause voice tremor have singular characteristics, the differential diagnosis of these diseases is a challenge because of the overlap of the existing signs and symptoms. OBJECTIVE: To develop a task-specific protocol to assess voice tremor by means of nasofibrolaryngoscopy and to identify those tasks that can distinguish between essential and dystonic tremor syndromes. METHODS: Cross-sectional study. The transnasal fiberoptic laryngoscopy protocol, which consisted of the assessment of palate, pharynx and larynx tremor during the performance of several vocal and non-vocal tasks with distinct phenomenological characteristics, was applied to 19 patients with voice tremor. Patients were diagnosed with essential or dystonic tremor according to the phenomenological characterization of each group. Once they were classified, the tasks associated with the presence of tremor in each syndrome were identified. RESULTS: The tasks that significantly contributed to the differential diagnosis between essential and dystonic tremor were /s/ production, continuous whistling and reduction of tremor in falsetto. These tasks were phenomenologically different with respect to the presence of tremor in the two syndromes. CONCLUSION: The protocol of specific tasks by means of transnasal fiberoptic laryngoscopy is a viable method to differentiate between essential and dystonic voice tremor syndromes through the following tasks: /s/ production, continuous whistling and reduction of tremor in falsetto.
RESUMO INTRODUÇÃO: Apesar de haver características próprias entre as síndromes causadoras do tremor vocal, o diagnóstico diferencial destas doenças é um desafio pela sobreposição de sinais e sintomas presentes. OBJETIVO: Desenvolver protocolo de tarefas específicas na avaliação do tremor vocal por nasofibrolaringoscopia e identificar aquelas que diferenciem as síndromes de tremor essencial e distônico. MÉTODO: Estudo transversal. O protocolo de nasofibrolaringoscopia, que consistiu na avaliação do tremor em palato, faringe e laringe durante execução de diversas tarefas fonatórias e não-fonatórias com características fenomenológicas distintas, foi aplicado em 19 pacientes com tremor vocal. Os pacientes foram diagnosticados como tremor essencial ou distônico a partir da caracterização fenomenológica de cada grupo. Uma vez classificados, determinou-se quais tarefas estavam associadas à presença de tremor nas diferentes síndromes. RESULTADOS: As tarefas que contribuíram significativamente na distinção do tremor essencial e distônico foram a emissão /s/, assobio contínuo e redução do tremor no agudo, pois apresentaram-se fenomenologicamente diferentes quanto à presença do tremor entre as duas síndromes. CONCLUSÃO: O protocolo de tarefas específicas por nasofibrolaringoscopia é um método viável para diferenciar as síndromes de tremor vocal essencial e distônico por meio das tarefas: emissão /s/, assobio contínuo e redução do tremor no agudo.
Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Trastornos Distónicos/diagnóstico , Temblor Esencial/diagnóstico , Laringoscopía/métodos , Laringe/fisiopatología , Temblor/diagnóstico , Trastornos de la Voz/diagnóstico , Protocolos Clínicos , Estudios Transversales , Diagnóstico Diferencial , Temblor/clasificación , Calidad de la VozRESUMEN
INTRODUCTION: Although syndromes that cause voice tremor have singular characteristics, the differential diagnosis of these diseases is a challenge because of the overlap of the existing signs and symptoms. OBJECTIVE: To develop a task-specific protocol to assess voice tremor by means of nasofibrolaryngoscopy and to identify those tasks that can distinguish between essential and dystonic tremor syndromes. METHODS: Cross-sectional study. The transnasal fiberoptic laryngoscopy protocol, which consisted of the assessment of palate, pharynx and larynx tremor during the performance of several vocal and non-vocal tasks with distinct phenomenological characteristics, was applied to 19 patients with voice tremor. Patients were diagnosed with essential or dystonic tremor according to the phenomenological characterization of each group. Once they were classified, the tasks associated with the presence of tremor in each syndrome were identified. RESULTS: The tasks that significantly contributed to the differential diagnosis between essential and dystonic tremor were /s/ production, continuous whistling and reduction of tremor in falsetto. These tasks were phenomenologically different with respect to the presence of tremor in the two syndromes. CONCLUSION: The protocol of specific tasks by means of transnasal fiberoptic laryngoscopy is a viable method to differentiate between essential and dystonic voice tremor syndromes through the following tasks: /s/ production, continuous whistling and reduction of tremor in falsetto.
Asunto(s)
Trastornos Distónicos/diagnóstico , Temblor Esencial/diagnóstico , Laringoscopía/métodos , Laringe/fisiopatología , Temblor/diagnóstico , Trastornos de la Voz/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Protocolos Clínicos , Estudios Transversales , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Temblor/clasificación , Calidad de la Voz , Adulto JovenRESUMEN
We would like to congratulate Lee and Altenmüller for their recent study showing important findings about the characterization of a task-specific dystonia in a young professional percussionist. The authors presented in an elegant way the EMG investigation and treatment approach and the possible differential diagnoses, raising an important question about the need for physicians' awareness of this condition when considering musicians' health. We would like to add a new point of view in order to contribute with this discussion and provide critical thinking for a multidisciplinary approach to this type of dystonia, which may affect many individuals and result in severe compromise of musical technical performance. One factor that could also be potentially associated with the percussion-related dystonia is sleep.
Asunto(s)
Trastornos Distónicos/diagnóstico , Trastornos Distónicos/terapia , Pierna , Música , Enfermedades Profesionales/tratamiento farmacológico , Enfermedades Profesionales/terapia , Humanos , MasculinoAsunto(s)
Antipsicóticos/efectos adversos , Antagonistas de Dopamina/efectos adversos , Distonía/inducido químicamente , Trastornos Distónicos/inducido químicamente , Risperidona/efectos adversos , Anciano , Distonía/diagnóstico , Trastornos Distónicos/diagnóstico , Femenino , Humanos , Trastornos Psicóticos/tratamiento farmacológicoRESUMEN
Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.
Asunto(s)
Distonía/diagnóstico , Trastornos Distónicos/diagnóstico , Músculos del Cuello , Adolescente , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Distonía/clasificación , Distonía/complicaciones , Distonía/genética , Trastornos Distónicos/clasificación , Trastornos Distónicos/complicaciones , Trastornos Distónicos/genética , Salud de la Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Índice de Severidad de la Enfermedad , Temblor/etiología , Adulto JovenRESUMEN
Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.
A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pacientes com DC no Setor de Distúrbios do Movimento entre julho de 2008 e junho de 2009. Somente os pacientes sem diagnóstico etiológico foram admitidos para análise. A idade de início dos sintomas foi mais tardia em pacientes com distonia focal e segmentar do que em pacientes com distonia generalizada (p<0,001). A gravidade dos sintomas foi maior em pacientes com distonia focal esporádicos do que naqueles com história familiar (p<0,01). Os casos generalizados foram mais graves nos pacientes com história familiar (p<0,01). Pacientes esporádicos tiveram níveis maiores de dor em relação aos casos familiares (p<0,05). Esperamos apresentar em breve resultados de análises genéticas desses pacientes.
Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Distonía/diagnóstico , Trastornos Distónicos/diagnóstico , Músculos del Cuello , Edad de Inicio , Distonía/clasificación , Distonía/complicaciones , Distonía/genética , Trastornos Distónicos/clasificación , Trastornos Distónicos/complicaciones , Trastornos Distónicos/genética , Salud de la Familia , Dimensión del Dolor , Índice de Severidad de la Enfermedad , Temblor/etiologíaRESUMEN
Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome will reveal the diagnosis.
Asunto(s)
Algoritmos , Trastornos Distónicos/diagnóstico , Trastornos Parkinsonianos , Antiparkinsonianos/uso terapéutico , Trastornos Distónicos/clasificación , Trastornos Distónicos/genética , Pruebas Genéticas , Humanos , Levodopa/uso terapéutico , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/tratamiento farmacológicoRESUMEN
Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome will reveal the diagnosis.
Levando em consideração o interesse crescente no campo da genética das distonias, organizou-se um algoritmo rápido e didático com a finalidade de auxiliar no diagnóstico das principais formas de distonia hereditária. O ramo principal desse algoritmo é a própria classificação da distonia: primária, paroxística, ou plus. As características específicas de cada síndrome podem sugerir o diagnóstico.