Cervical dystonia: about familial and sporadic cases in 88 patients.

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.

Cervical dystonia: about familial and sporadic cases in 88 patients / Distonia cervical: consideracoes sobre casos esporadicos e familiares em 88 pacientes

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.

Jaw-opening oromandibular dystonia secondary to Wilson's disease treated with botulinum toxin type A.

We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD), in which the patients were treated with botulinum toxin type A (BTX-A). In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A.

Jaw-opening oromandibular dystonia secondary to Wilson's Disease treated with botulinum toxin type A / Distonia oromandibular com abertura da boca secundária à doença de Wilson tratada com toxina botulínica tipo A

We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD), in which the patients were treated with botulinum toxin type A (BTX-A). In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A.

Relata-se uma série de cinco casos de distonia oromandibular com abertura da boca, secundária à doença de Wilson, em que os pacientes foram tratados com toxina botulínica tipo A. Em todos os casos, a distonia oromandibular com abertura da boca foi parcialmente reduzida três semanas após as injeções. O efeito adverso mais comum foi a disfagia leve e transitória. Este estudo preliminar mostrou melhora parcial da distonia oromandibular com abertura da boca.

Parakinesia brachialis oscitans: report of three cases.

The term 'parakinesia brachialis oscitans' (PBO) was coined recently to describe cases of hemiplegia in which spontaneous yawning causes involuntary raising of the affected upper limb. The authors report three additional cases of PBO adding new phenomenological findings to the syndrome, discussing possible physiopathology of this phenomenon.

Botulinum toxin type A and cervical dystonia: a seven-year follow-up.

Most cases of cervical dystonia (CD) are idiopathic, and focal injections of botulinum toxin A (BoNT/A) are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS) at baseline assessment (2001-2002) and follow-up (2008-2009) was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6 ± 6.6 and 17.7 ± 4.8; p<0.05). There was no improvement in the severity of cervical pain (p=0.43). In conclusion, BoNT/A was a safe and effective long-term therapy for CD.

Lees' syndrome: a case series.

We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome.

Botulinum toxin type A and cervical dystonia: a seven-year follow-up / Toxina botulínica A e distonia cervical: avaliação após sete anos

Most cases of cervical dystonia (CD) are idiopathic, and focal injections of botulinum toxin A (BoNT/A) are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS) at baseline assessment (2001-2002) and follow-up (2008-2009) was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6±6.6 and 17.7±4.8; p<0.05). There was no improvement in the severity of cervical pain (p=0.43). In conclusion, BoNT/A was a safe and effective long-term therapy for CD.

A maioria dos casos de distonia cervical (DC) são idiopáticos; injeções locais com toxina botulínica A (BoNT/A) são o tratamento de escolha. O objetivo de nosso estudo foi documentar os efeitos do tratamento a longo prazo da BoNT/A em pacientes com DC idiopática. Foram selecionados 58 pacientes com DC idiopática de março de 2001 a maio de 2002. Desses pacientes, 28 estavam disponíveis para re-avaliação após sete anos. Durante esse período, todos foram submetidos a tratamento regular com injeções de BoNT/A. As informações clínicas dos pacientes e a gravidade da DC (TWSTRS e VAS) na primeira avaliação (2001-2002) e na reavaliação (2008-2009) foram comparadas. Houve uma significante melhora motora detectada pelos resultados da escala TWSTRS, usada para analisar a gravidade clínica (19,6±6,6 e 17,7±4,8; p<0,05). Não houve melhora nos resultados referentes a dor cervical (p=0,43). Em conclusão, BoNT/A foi uma terapêutica de longo prazo efetiva e segura para DC.

Lees' syndrome: a case series / Síndrome de Lees: uma série de casos

We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome.

Relatamos uma série de casos da síndrome de desregulação dopaminérgica, previamente conhecida como desregulação homeostática hedonística em pacientes com doença de Parkinson em uso de terapia de reposição dopaminérgica, e agora definida como síndrome de Lees.

Américo Negrette and Huntington's disease.

The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

Américo Negrette and Huntington's disease / Américo Negrette e a doença de Huntington

The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

Os autores apresentam uma revisão histórica sobre a magistral contribuição clínica do Professor Américo Negrette, neurologista venezuelano, na evolução do conhecimento científico sobre a doença de Huntington.

Cross-cultural influences on psychogenic movement disorders - a comparative review with a Brazilian series of 83 cases.

OBJECTIVE: To describe the profile and presentation of a Brazilian series of psychogenic movement disorders (PMD) patients and to perform a comparative analysis with the previous series published worldwide. METHODS: A total of 83 patients with a clinical diagnosis of PMD were included. All patients were assessed and followed at the Movement Disorders Outpatient clinic from 2000 to 2008. Demographic, clinical, paraclinical, and treatment outcome data were collected using a standardized protocol. The Gupta & Lang criteria were used for the diagnosis of PMD. RESULTS: Seventy-three patients were females (87.95%), with mean age of onset of 39 ± 5.1 years. Tremor was the most frequent PMD, occurring in 42 (50.6%) patients followed by dystonia, in 27 (32.5%) patients. Cerebellar-like ataxia was seen in 3 patients (4.16%). Psychiatric co-morbidities were diagnosed in 67 (80.7%) of the patients. Thirty-five of the 58 patients (60.3%) who were managed and followed up for six months had some degree of improvement, including 22 patients (37.9%) with complete or almost complete remission. CONCLUSION: In this series of patients with PMD, tremor and dystonia were most frequent PMD. Our results overlap those of the literature regarding most demographic and clinical findings, demonstrating the trans-cultural aspect of PMD.

Correlação entre a qualidade de vida de cuidadores familiares e os níveis de independência funcional dos cuidados / Correlation between the caregivers? quality of life and family levels of functional independence of care / Correlación entre la calidad de vida de cuidadores familiares y los niveles de independencia funcional de los cuidados

A pesquisa correlacionou o nível de Independência Funcional de pessoas com sequelas de doenças neurológicas com a Qualidade de Vida (QV) dos cuidadores principais. Para tanto, utilizou a Medida de Independência Funcional (MIF) com 40 sujeitos e o Short-Form Health Survey (SF-36) com 40 cuidadores. As variáveis levantadas não apresentaram significância estatística p<0,05. Comparando os escores da MIF com a QV, apenas uma pequena correlação entre independência funcional e aspectos sociais para p<0,05. Correlacionando a QV com os níveis de independência, para os sujeitos com moderada dependência, apresentou uma alta correlação (Spearman) para Capacidade Funcional p<0,01; e para os sujeitos completamente dependentes, uma alta correlação (Spearman) para Dor e Saúde Mental p<0,01, e para Estado Geral da Saúde e Vitalidade p<0,05. Os dados mostram a necessidade de uma abordagem específica sobre a QV de cuidadores de sujeitos que apresentam uma dependência completa.

The research correlated the Functional Independence level of people with neurological sequels, with the caregivers? Quality of Life (QOL). The Functional Independence Measure (FIM) was used with 40 subjects and the Short-Form Health Survey (SF-36) with 40 caregivers. The variables studied were not statistically significant p <0.05. Comparing the scores of FIM with QOL, only a small correlation between functional independence and social aspects to p <0.05. Correlating QOL with levels of independence, individuals with moderate dependence showed a high correlation (Spearman) for functional capacity p <0.01, and a high correlation (Spearman) for the subjects completely dependent on for Pain and Mental Health p <0.01 and General Health and Vitality p <0.05. Data show the need for a specific approach on the QOL of caregivers of individuals who have a complete dependence.

La investigación correlacionó el nivel de Independencia Funcional de personas con secuelas de enfermedades neurológicas con la Calidad de Vida (QV) de los cuidadores principales. Para tanto utilizó la Medida de Independencia Funcional (MIF) con 40 sujetos y/o Short-Form Health Survey (SF-36), con 40 cuidadores. Las variables levantadas no presentaron significancia estadística p<0,05. Comparando la puntuación de la MIF con la QV, apenas una pequeña correlación entre Independencia funcional y aspectos sociales para p<0,05. Correlacionando la QV con los niveles de Independencia, para los sujetos con moderada dependencia presentó una alta correlación (Spearman) para Capacidad Funcional p<0,01 y, para los sujetos completamente dependientes una alta correlación (Spearman) para Dolor y Salud Mental p<0,01 y para Estado General de la Salud y Vitalidad p<0,05. Los datos muestran la necesidad de un abordaje específico sobre la QV de cuidadores de sujetos que presentan una dependencia completa.

Estudo descritivo do desempenho ocupacional do sujeito com doença de Parkinson: o uso da CIF como ferramenta para classificação da atividade e participação / Descriptive study of occupational performance of subjects with Parkinson?s disease: the use of ICF as a tool for the classification of activity and participation

A Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), é uma proposta da Organização Mundial de Saúde (OMS), que surge como uma ferramenta para classificar e identificar fatores, que além da condição de saúde, estejam interferindo na funcionalidade de sujeitos na realização de atividades. Neste estudo transversal realizou-se a avaliação do desempenho ocupacional de 46 sujeitos diagnosticados com a Doença de Parkinson (DP), através da aplicação da Medida de Desempenho Ocupacional Canadense (MDOC) e classificação das mesma nos domínios da CIF. Sendo as atividades mais comprometidas a Vida Comunitária, Social e Cívica (32,6%); a Mobilidade (26,1%); o Cuidado Pessoal (27,1%); a Vida Doméstica (10,9%); e, Aprendizagem e Aplicação de Conhecimento (8,7%). Também foram levantadas informações sobre: sexo, estado civil, tipo de residência, necessidade ou não de assistência, Escala de Hoehn & Yahr, perfil de rigidez, estabilidade postural, idade e tempo de doença. Estas não apresentaram significância estatística (p< 0,05). Contudo na correlação entre variáveis levantadas, obteve-se, através do teste de correlação não-paramétrico de Spearman, que apenas a variável rigidez apresentou uma correlação média de ?r-0,452? (p< 0,01) com os cinco domínios classificados na CIF. Os resultados evidenciam a importância da promoção e manutenção da Vida Comunitária, Social e Cívica para sujeitos com DP e a rigidez como componente importante de queixas em relação ao desempenho ocupacional.O Modelo de Saúde proposto pela CIF, em conjunto com a aplicação da MDOC, mostrou-se efetivo, permitindo a correlação quando a atividade é foco de avaliação, entre funções e estruturas do corpo, fatores ambientais e pessoais, com as dificuldades de desempenho na realização das atividades.

The International Classification of Functionality, Disability, and Health (ICF) is a proposal from the World Health Organization (WHO), which appears as a tool to classify and identify factors that, in addition to the state of health, interfere with the functionality of the subject performing activities. In this cross-sectional study we assess the occupational performance of 46 subjects diagnosed with Parkinson?s disease (PD) through the application of the Canadian Occupational Performance Measurement (COPM) and its classification in the areas of ICF. The activities most effected are, Social, Civic, and Community Life (32.6%), Mobility (26.1%), Personal Care (27.1%), Family Life (10.9%), and Learning and Application of Knowledge (8.7%). Information has also been gathered about gender, marital status, type of residence, need for assistance, the Hoehn & Yahr Scale, rigidity profile, postural stability, age and length of illness. This data was not statistically significant (p <0.05). However, in the correlation between variables studied, the fact that only the rigidity variable showed an average correlation of r-0, 452 (p <0.01) was obtained through the non-parametric Spearman correlation test, with the five areas classified in the ICF. The results show the importance of promoting and maintaining Community, Social, and Civic Life for subjects with PD and rigidity as an important component of their complaints in relation to occupational performance. The Health Model proposed by the ICF, along with the application of the COPM, were effective, allowing for correlation when the activity is the focus of evaluation, between functions and structures of the body and environmental and personal factors, with the difficulties of performance in carrying out activities.

Botulinum toxin type A in the treatment of lower-limb spasticity in children with cerebral palsy.

We evaluated the safety and effectiveness of botulinum toxin A (BoNT/A) in the treatment of spasticity in 20 children with spastic diplegic cerebral palsy (CP). All the patients received injections in the gastrocnemius and soleus, and 15 received injections in the adductors. The total dose varied from 70 to 140 U (99.75+/-16.26 U), or 7.45+/-2.06 U/kg per patient. The treatment improved the patients' walking and gait pattern significantly. There was also a significant alteration in the heel-ground distance and increased motion of the ankle joint. These structural changes in the feet were sustained until the end of the follow-up, although the same was not observed for the functional parameters. Three patients complained of weakness in the lower limbs. In conclusion, BoNT/A is safe and effective when used in a single session of injections and produces a sustained structural modification of the lower limbs. However, functional changes are temporary and are only observed during the peak effect of the drug.

Botulinum toxin type A in the treatment of lower-limb spasticity in children with cerebral palsy / Toxina botulínica tipo A como tratamento para espasticidade de membros inferiores em crianças com paralisia cerebral

We evaluated the safety and effectiveness of botulinum toxin A (BoNT/A) in the treatment of spasticity in 20 children with spastic diplegic cerebral palsy (CP). All the patients received injections in the gastrocnemius and soleus, and 15 received injections in the adductors. The total dose varied from 70 to 140 U (99.75±16.26 U), or 7.45±2.06 U/kg per patient. The treatment improved the patients' walking and gait pattern significantly. There was also a significant alteration in the heel-ground distance and increased motion of the ankle joint. These structural changes in the feet were sustained until the end of the follow-up, although the same was not observed for the functional parameters. Three patients complained of weakness in the lower limbs. In conclusion, BoNT/A is safe and effective when used in a single session of injections and produces a sustained structural modification of the lower limbs. However, functional changes are temporary and are only observed during the peak effect of the drug.

Para avaliação da segurança e eficácia do tratamento com toxina botulínica A (TB-A) na espasticidade na paralisia cerebral (PC), foram selecionadas 20 crianças com a forma diplegia espástica. Todos os pacientes receberam injeções nos gastrocnêmios e sóleos, 15 receberam doses nos adutores da coxa. A dose total variou de 70 a 140 Us (99,75±16,26 U), 7,45±2,06 U/Kg por paciente. O tratamento com a TB-A melhorou significativamente a deambulação e o padrão de marcha. Houve também significativa alteração da distância tornozelo-solo e aumento da amplitude de movimento da articulação do tornozelo. Essas mudanças estruturais dos pés se mantiveram até o final do acompanhamento. O mesmo não foi observado com parâmetros funcionais. Três pacientes apresentaram fraqueza em membros inferiores. Conclui-se que a TB-A, em uma única aplicação, é segura e eficaz. Há modificação sustentada da estrutura motora dos membros inferiores, porém mudanças funcionais são temporárias, durante o pico de ação do medicamento.

Increased frequency and range of sexual behavior in a patient with Parkinson's disease after use of pramipexole: a case report.

INTRODUCTION: Several recent reports have linked the use of dopamine agonists (DAs) to a variety of compulsive behaviors in patients with Parkinson's disease (PD). These inappropriate behaviors may include pathological gambling, compulsive shopping, and hypersexuality. AIM: To report the case of a patient with increased range of sexual behavior after use of pramipexole, a DA. METHODS: A 67-year-old man with a 7-year diagnosis of PD treated with levodopa and pramipexole presented with a dramatic change in sexual behavior after an increase in DA dose. RESULTS: The patient, who historically was a very shy and conservative person, started to present increased frequency of sexual intercourse with his wife, during which he began speaking obscenities with an extreme preference for anal intercourse, preferences never requested before. After pramipexole was withdrawn, complete remission was observed with return to his usual sexual behavior. CONCLUSIONS: Hypersexuality and paraphilias are complications not uncommonly found in patients with PD under dopaminergic treatment. Further studies are needed for the understanding of this complex complication, and particularly the most prevalent relationship between pathological hypersexuality and use of DAs.

Huntington's disease-like 2 in Brazil--report of 4 patients.

Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.

Cervical dystonia: clinical and therapeutic features in 85 patients.

We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation. BoNT/A was injected locally in 81 patients using electromyographic guidance. Four patients who had had previous treatment were considered to be in remission. The average ages at onset of focal dystonia and segmental dystonia were greater than for generalized dystonia (p<0.0003). The severity of the abnormal head-neck movements were more severe among the patients with generalized dystonia (p<0.001). Pain in the cervical area was noted in 59 patients. It was not possible to determine the etiology of the disease in 62.3% of patients. Tardive dystonia was the most common secondary etiology. A major improvement in the motor symptoms of CD and pain was observed in patients following treatment with BoNT/A. The tardive dystonia subgroup did not respond to the treatment. Dysphagia was observed in 2.35% of the patients.

Cervical dystonia: clinical and therapeutic features in 85 patients

We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation. BoNT/A was injected locally in 81 patients using electromyographic guidance. Four patients who had had previous treatment were considered to be in remission. The average ages at onset of focal dystonia and segmental dystonia were greater than for generalized dystonia (p<0.0003). The severity of the abnormal head-neck movements were more severe among the patients with generalized dystonia (p<0.001). Pain in the cervical area was noted in 59 patients. It was not possible to determine the etiology of the disease in 62.3 percent of patients. Tardive dystonia was the most common secondary etiology. A major improvement in the motor symptoms of CD and pain was observed in patients following treatment with BoNT/A. The tardive dystonia subgroup did not respond to the treatment. Dysphagia was observed in 2.35 percent of the patients.

Para identificar os aspectos clínicos e a resposta a toxina botulínica A (TxBA), pacientes com distonia cervical (DC) foram submetidos a avaliação clínica, laboratorial e neuroimagem. O tratamento com TxBA foi aplicado a 81 pacientes guiado por eletroneuromiografia. Quatro pacientes, com tratamento prévio, foram considerados em remissão. A média de idade de início dos sintomas de pacientes com distonia focal e segmentar foi maior que a encontrada em pacientes com distonia generalizada (p<0,0003). A gravidade das alterações motoras cervicais foi maior entre os pacientes com distonia generalizada que nos pacientes com distonia focal (p<0,001). Graus diferentes de dor na região cervical foram relatados por 59 dos pacientes. Não foi possível determinar a etiologia da doença em 62,3 por cento dos pacientes sendo distonia tardia a mais comum. Houve acentuada melhora dos sintomas motores e da dor da DC com a aplicação de TxBA. O subgrupo de pacientes com distonia tardia não respondeu ao tratamento. Disfagia ocorreu em 2,35 por cento dos pacientes.