RESUMO
Complex hyperkinetic movement disorders are a rare complication of stroke, frequently involving posterolateral contralateral thalamic lesions. One of the proposed mechanisms for these presentations is proprioceptive impairment, hence not involving deregulation of the basal ganglia-thalamocortical circuits. We report a patient who presented with dystonic posturing and athetoid movements with onset 2 years after right frontoparietotemporal stroke. Brain MRI showed no thalamic lesion. Based on the phenomenology, a diagnosis of pseudochoreoathetosis was proposed. To our knowledge, this is the first case report of poststroke pseudochoreoathetosis without thalamic involvement.
Assuntos
Transtornos dos Movimentos , Acidente Vascular Cerebral , Humanos , Atetose/etiologia , Transtornos dos Movimentos/diagnóstico , Tálamo/diagnóstico por imagem , Gânglios da Base , Acidente Vascular Cerebral/complicaçõesRESUMO
Functional movement disorder (FMD) presents as disabling motor symptoms that cannot be explained by organic processes. Despite the lack of lesion or known central nervous system dysfunction, distortion in sensorimotor processing in movement generation and execution is often observed. A person's capacity to judge laterality of a body part requires processing of sensorimotor information. This prospective observational study compared reaction time (RT) and accuracy (ACC) of hand laterality recognition between 30 people diagnosed with FMD and 30 age-matched healthy control participants. The association of RT and ACC with severity of FMD as measured by the Simplified Functional Movement Disorders Rating Scale (SFMDRS) was also explored. RT was on average 0.6 s slower (95% CI 0.4 - 0.8 s, p < 0.001) in patients with FMD (mean 2.2 s, standard deviation (SD) 0.5) than controls (mean 1.7 s, SD 0.3). ACC was on average 8.9% lower (95% CI -15.7 - -2.2, p = 0.01) in patients with FMD (mean 79.6%, SD 16.6) than controls (mean 88.5%, SD 8.1). When adjusted for SFMDRS using robust regression, RT was 0.3 s slower (95% CI 0.01 - 0.5, p = 0.04) in cases than in controls, but ACC was no longer different between groups. There was a moderate negative correlation between RT and ACC in FMD patients (ρ -0.58, p < 0.001 but not in controls (ρ -0.26, p = 0.17). People with FMD had significantly slower RT and lower ACC compared to the control group. These results provide new insights into underlying sensorimotor processing deficits in those with FMD.
Assuntos
Lateralidade Funcional/fisiologia , Mãos/fisiologia , Imaginação/fisiologia , Transtornos dos Movimentos/fisiopatologia , Movimento/fisiologia , Reconhecimento Psicológico/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/psicologia , Estudos Prospectivos , Tempo de Reação/fisiologiaRESUMO
Manganese (Mn) is a neurotoxicant that, due to its paramagnetic property, also functions as a magnetic resonance imaging (MRI) T1 contrast agent. Previous studies in Mn toxicity have shown that Mn accumulates in the brain, which may lead to parkinsonian symptoms. In this article, we trained support vector machines (SVM) using whole-brain R1 (R1 = 1/T1) maps from 57 welders and 32 controls to classify subjects based on their air Mn concentration ([Mn]Air), Mn brain accumulation (ExMnBrain), gross motor dysfunction (UPDRS), thalamic GABA concentration (GABAThal), and total years welding. R1 was highly predictive of [Mn]Air above a threshold of 0.20 mg/m3 with an accuracy of 88.8% and recall of 88.9%. R1 was also predictive of subjects with GABAThal having less than or equal to 2.6 mM with an accuracy of 82% and recall of 78.9%. Finally, we used an SVM to predict age as a method of verifying that the results could be attributed to Mn exposure. We found that R1 was predictive of age below 48 years of age with accuracies ranging between 75 and 82% with recall between 94.7% and 76.9% but was not predictive above 48 years of age. Together, this suggests that lower levels of exposure (< 0.20 mg/m3 and < 18 years of welding on the job) do not produce discernable signatures, whereas higher air exposures and subjects with more total years welding produce signatures in the brain that are readily identifiable using SVM.
Assuntos
Poluentes Ocupacionais do Ar/toxicidade , Encéfalo/metabolismo , Intoxicação por Manganês/metabolismo , Manganês/toxicidade , Exposição Ocupacional , Adulto , Fatores Etários , Poluentes Ocupacionais do Ar/metabolismo , Química Encefálica , Humanos , Imageamento por Ressonância Magnética , Masculino , Manganês/metabolismo , Ferreiros , Pessoa de Meia-Idade , Modelos Biológicos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/metabolismo , Máquina de Vetores de Suporte , Tálamo/diagnóstico por imagem , Tálamo/metabolismo , Soldagem , Adulto Jovem , Ácido gama-Aminobutírico/análiseRESUMO
Best practice recommendations in cancer care increasingly call for integrated rehabilitation services to address physical impairments and disability. These recommendations have languished primarily due to a lack of pragmatic, generalizable intervention models. This perspective paper proposes a clinically integrated physical therapist (CI-PT) model that enables flexible and scalable services for screening, triage, and intervention addressing functional mobility. The model is based on (1) a CI-PT embedded in cancer care provider clinics, and (2) rehabilitation across the care continuum determined by the patient's level of functional mobility. The CI-PT model includes regular screening of functional mobility in provider clinics via a patient-reported mobility measure-the Activity Measure for Post-Acute Care, a brief physical therapy evaluation tailored to the specific functional needs of the individual-and a tailored, skilled physical therapist intervention based on functional level. The CI-PT model provides a pragmatic, barrier-free, patient-centric, data-driven approach to integrating rehabilitation as part of standard care for survivors of cancer. The model standardizes CI-PT practice and may be sufficiently agile to provide targeted interventions in widely varying cancer settings and populations. Therefore, it may be ideal for wide implementation among outpatient oncological settings. Implementation of this model requires a shared approach to care that includes physical therapists, rehabilitation administrators, cancer care providers, and cancer center administrators.
Assuntos
Prestação Integrada de Cuidados de Saúde/organização & administração , Limitação da Mobilidade , Transtornos dos Movimentos/reabilitação , Neoplasias/terapia , Especialidade de Fisioterapia/organização & administração , Institutos de Câncer , Humanos , Modelos Teóricos , Transtornos dos Movimentos/diagnóstico , Neoplasias/diagnóstico , Equipe de Assistência ao Paciente/organização & administração , Fisioterapeutas , Vigilância da População/métodos , TriagemRESUMO
PURPOSE: To develop a comprehensive assessment protocol for identifying, classifying and grading changes in stomatognathic system components and functions of older people, to determine its psychometric properties and verify its association with oral health and age. METHODS: The content validity of the Orofacial Myofunctional Evaluation with Scores for Elders protocol (OMES-Elders) was established based on the literature. The protocol contains three domains: appearance/posture, mobility, and functions of the stomatognathic system. Eighty-two healthy elder volunteers (mean age 69±7.24 years) were evaluated using the OMES-Elders. A test-screening for orofacial disorders (reference) was used to analyze the concurrent validity (correlation test), sensitivity, specificity and accuracy (Receiver Operating Characteristic Curve: ROC curve) of the OMES-Elders. The association of the OMES-Elders scores with the Oral Health Index (OHX) and age in the sample was tested. RESULTS: There was a significant correlation between the OMES-Elders and the reference test (p < 0.001). Reliability coefficients ranged from good (0.89) to excellent (0.99). The OMES-Elders protocol had a sensitivity of 82.9%, specificity of 83.3% and accuracy of 0.83. The scores of the protocol were significantly lower in individuals with worse oral health (OHX ≤ 61%), although individuals with adequate oral health (OHX ≥ 90%) also had myofunctional impairments. The predictors OHX and age explained, respectively, 33% and 30% of the variance in the OMES-Elders total score. CONCLUSION: As the first specific orofacial myofunctional evaluation of older people, the OMES-Elders protocol proved to be valid, reliable and its total score was associated with oral health and age.
Assuntos
Protocolos Clínicos , Transtornos de Deglutição/diagnóstico , Transtornos dos Movimentos/diagnóstico , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Músculos Faciais/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Terapia Miofuncional , Saúde Bucal , Psicometria , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context. In this study, we present a screening approach of potential C. elegans mutants as potential ASD models. We screened these mutants for motor-deficiency phenotypes, which can be exploited to study underlying mechanisms of the disorder. Selected motor-deficient mutants were then used in a comprehensive drug screen of over 3900 compounds, including many FDA-approved and natural molecules, that were analyzed for their ability to suppress motility defects caused by ASD-associated gene orthologues. This genetic-chemical approach, i.e. establishing C. elegans models for ASD and screening of a well-characterized compound library, might be a promising first step to understand the mechanisms of how gene variations cause neuronal dysfunction, leading to ASD and other neurological disorders. Positively acting compounds could also be promising candidates for preclinical studies.
Assuntos
Transtorno do Espectro Autista/complicações , Proteínas de Caenorhabditis elegans/genética , Avaliação Pré-Clínica de Medicamentos/métodos , Testes Genéticos/métodos , Transtornos dos Movimentos , Animais , Animais Geneticamente Modificados , Transtorno do Espectro Autista/genética , Caenorhabditis elegans , Proteínas de Caenorhabditis elegans/metabolismo , Modelos Animais de Doenças , Humanos , Proteínas Luminescentes/genética , Proteínas Luminescentes/metabolismo , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/genética , Mutação/genética , FenótipoRESUMO
This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations. The most well-known cerebral manifestations of MIDs include stroke-like episodes, epilepsy, headache, ataxia, movement disorders, hypopituitarism, muscle weakness, psychiatric abnormalities, nystagmus, white and gray matter lesions, atrophy, basal ganglia calcification, and hypometabolism on 2-deoxy-2-[fluorine-18]fluoro-D-glucose positron-emission tomography. For most MIDs, only symptomatic therapy is currently available. Symptomatic treatment should be supplemented by vitamins, cofactors, and antioxidants. In conclusion, cerebral manifestations of MIDs need to be recognized and appropriately managed because they strongly determine the outcome of MID patients.
Assuntos
Ataxia/patologia , Encéfalo/patologia , Doenças Mitocondriais/patologia , Acidente Vascular Cerebral/patologia , Ataxia/diagnóstico , Atrofia/patologia , Humanos , Doenças Mitocondriais/diagnóstico , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/patologia , Acidente Vascular Cerebral/diagnósticoRESUMO
ABSTRACT Purpose To develop a comprehensive assessment protocol for identifying, classifying and grading changes in stomatognathic system components and functions of older people, to determine its psychometric properties and verify its association with oral health and age. Methods The content validity of the Orofacial Myofunctional Evaluation with Scores for Elders protocol (OMES-Elders) was established based on the literature. The protocol contains three domains: appearance/posture, mobility, and functions of the stomatognathic system. Eighty-two healthy elder volunteers (mean age 69±7.24 years) were evaluated using the OMES-Elders. A test-screening for orofacial disorders (reference) was used to analyze the concurrent validity (correlation test), sensitivity, specificity and accuracy (Receiver Operating Characteristic Curve: ROC curve) of the OMES-Elders. The association of the OMES-Elders scores with the Oral Health Index (OHX) and age in the sample was tested. Results There was a significant correlation between the OMES-Elders and the reference test (p < 0.001). Reliability coefficients ranged from good (0.89) to excellent (0.99). The OMES-Elders protocol had a sensitivity of 82.9%, specificity of 83.3% and accuracy of 0.83. The scores of the protocol were significantly lower in individuals with worse oral health (OHX ≤ 61%), although individuals with adequate oral health (OHX ≥ 90%) also had myofunctional impairments. The predictors OHX and age explained, respectively, 33% and 30% of the variance in the OMES-Elders total score. Conclusion As the first specific orofacial myofunctional evaluation of older people, the OMES-Elders protocol proved to be valid, reliable and its total score was associated with oral health and age.
RESUMO Objetivo Desenvolver um protocolo de avaliação abrangente para identificar, classificar e graduar as mudanças nos componentes e funções do sistema estomatognático em pessoas idosas, determinar suas propriedades psicométricas e verificar a associação com a saúde oral e a idade. Método A validade de conteúdo do protocolo de Avaliação Miofuncional Orofacial com Escores para Idosos (AMIOFE-I), que contém três domínios, aparência/postura, mobilidade e funções do sistema estomatognático, foi estabelecida com base na literatura. Oitenta e dois voluntários idosos (média de idade 69±7,24 anos) foram avaliados usando o AMIOFE-I. Um teste de triagem de distúrbios miofuncionais (referência) foi empregado para as análises de validade concorrente (teste de correlação), sensibilidade, especificidade e acurácia (Receiver Operating Characteristic Curve: curva ROC) do AMIOFE-I. Também foi analisada a associação dos escores do AMIOFE-I com o índice de saúde oral (ISO), determinado na amostra, e à idade. Resultados Houve uma significante correlação entre o AMIOFE e o teste de referência. Os coeficientes de confiabilidade variaram de bom a excelente. O AMIOFE apresentou sensibilidade de 82,9%, especificidade de 83,3% e acurácia de 0,83. Os escores do AMIOFE-I foram significantemente menores em indivíduos com piores ISO (≤ 61%), contudo aqueles com adequada saúde oral (ISO ≥ 90%) também tinha prejuízos miofuncionais. Os preditores ISO e idade explicaram respectivamente 33% e 30% da variância no escore total do AMIOFE-I. Conclusão O protocolo AMIOFE-I, o primeiro específico para a avaliação miofuncional de idosos, mostrou-se válido, confiável e seu escore total foi associado à saúde oral e à idade.
Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/diagnóstico , Protocolos Clínicos , Transtornos dos Movimentos/diagnóstico , Psicometria , Saúde Bucal , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Fatores Etários , Terapia Miofuncional , Músculos Faciais/fisiopatologia , Pessoa de Meia-IdadeRESUMO
Neglect is a supramodal, clinically relevant disorder, which occurs in the different sensory modalities as well as in the mental representation. The different manifestations of neglect show interindividual and intraindividual variation. Different spatial and attention-related interventions lead to varying degrees of improvement in neglect symptoms but are often not stable in time or transferable to activities of daily living. Representational deficits or body-related aspects to modify personal neglect are rarely a priority in current therapies. Because of the multisensory and motor deficits from our point of view the future of neglect rehabilitation lies in a combined therapy of visual exploration, motor imagery with intensive motor therapy of motor sensory deficits and probably best reinforced by continued neck muscle vibration or allocation of attention to the neglected side.
Assuntos
Imagens, Psicoterapia/métodos , Transtornos dos Movimentos/reabilitação , Neurorretroalimentação/métodos , Reabilitação Neurológica/métodos , Transtornos da Percepção/reabilitação , Medicina Baseada em Evidências/métodos , Humanos , Transtornos dos Movimentos/complicações , Transtornos dos Movimentos/diagnóstico , Avaliação de Resultados em Cuidados de Saúde/métodos , Transtornos da Percepção/complicações , Transtornos da Percepção/diagnóstico , Resultado do TratamentoRESUMO
Mental training, including motor observation and motor imagery, has awakened much academic interest. The presumed functional equivalence of motor imagery and motor execution has given hope that mental training could be used for motor rehabilitation after a stroke. Results obtained from randomized controlled trials have shown mixed results. Approximately half of the studies demonstrate positive effects of motor imagery training but the rest do not show an additional benefit. Possible reasons why motor imagery training has so far not become established as a robust therapeutic approach are discussed in detail. Moreover, more recent approaches, such as neurofeedback-based motor imagery or closed-loop systems are presented and the potential importance for motor learning and rehabilitation after a stroke is discussed.
Assuntos
Imagens, Psicoterapia/métodos , Transtornos dos Movimentos/radioterapia , Neurorretroalimentação/métodos , Reabilitação do Acidente Vascular Cerebral/métodos , Terapia Combinada/métodos , Medicina Baseada em Evidências/métodos , Humanos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Avaliação de Resultados em Cuidados de Saúde/métodos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Resultado do TratamentoRESUMO
Objective Psychosomatic medicine psychiatrists are often tasked with the evaluation and treatment of complex neuropsychiatric states which may be motoric in phenotype. Little energy has been dedicated to understanding acute movement disorders in the hospital environment. Method Recognizing the importance of frontal-subcortical (corticostriatothalamocortical) circuitry and basal ganglia structures, we present a case series of acute movement disorder phenotypes resulting from underlying medical conditions, commonly-administered medications, or the interaction of both. We organize these scenarios into neurodegenerative disorders, primary psychiatric disorders, neuroinflammation, and polypharmacy, demonstrating a clinical example of each followed by background references on a variety of clinical states and medications contributing to acute movement disorders. In addition, we offer visual illustration of implicated neurocircuitry as well as proposed neurotransmitter imbalances involving glutamate, gamma aminobutyric acid, and dopamine. Furthermore, we review the various clinical syndromes and medications involved in the development of acute movement disorders. Results Acute movement disorder's involve complex interactions between frontal-subcortical circuits and acute events. Given the complexity of interactions, psychopharmacological considerations become critical, as some treatments may alleviate acute movement disorders while others will exacerbate them. Conclusion Integrating underlying medical conditions and acutely administered (or discontinued) pharmacological agents offers an interactional, neuromedical approach to acute movement disorders that is critical to the work of psychosomatic medicine.
Assuntos
Gânglios da Base/fisiopatologia , Lobo Frontal/fisiopatologia , Transtornos dos Movimentos/diagnóstico , Rede Nervosa/fisiopatologia , Medicina Psicossomática , Humanos , Transtornos dos Movimentos/fisiopatologia , FenótipoRESUMO
The creatine biosynthetic pathway is essential for cellular phosphate associated energy production and storage, particularly in tissues having higher metabolic demands. Guanidinoacetate N-Methyl transferase (GAMT) is an important enzyme in creatine endogenous biosynthetic pathway, with highest expression in liver and kidney. GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs. Due to problematic endogenous creatine biosynthesis, systemic depletion of creatine/phosphocreatine and accumulation of guanidinoacetate takes place that are the diagnostic features of this disease. Dietary creatine supplementation alone or along with arginine restriction has been reported to be beneficial for all treated patients, although to various extent. However, none of the GAMT deficient patient has been reported to return to complete normal developmental level.
Assuntos
Arginina/administração & dosagem , Creatina/uso terapêutico , Proteínas Alimentares/administração & dosagem , Suplementos Nutricionais , Metabolismo Energético , Guanidinoacetato N-Metiltransferase/deficiência , Transtornos do Desenvolvimento da Linguagem/terapia , Transtornos dos Movimentos/congênito , Creatina/biossíntese , Creatina/deficiência , Predisposição Genética para Doença , Guanidinoacetato N-Metiltransferase/genética , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/enzimologia , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/enzimologia , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/terapia , Fenótipo , Resultado do TratamentoRESUMO
A 13-year-old boy presented with a 5-day history of left-sided limp of gradual onset. There was no history of trauma. He developed a fever and rigours a few days before presenting to the paediatric emergency department. On examination, he was tender on palpating the left gluteal area on active mobilisation of the left hip and could not weight bear on the left leg. Pelvic X-rays and ultrasound of the left hip were normal. The blood results showed raised inflammatory markers and normal white cell count. The blood cultures were positive for Staphylococcus aureus. On day 2, a left hip MRI was performed as well as CT-guided drainage. Diagnosis of left sacroiliac septic arthritis was made. After an initial lack of improvement under intravenous ceftriaxone, a drain was inserted and left in situ for 8 days with double intravenous antibiotic therapy instituted. The patient made a full recovery.
Assuntos
Artrite Infecciosa/diagnóstico , Artrite/patologia , Transtornos dos Movimentos/diagnóstico , Articulação Sacroilíaca/patologia , Adolescente , Artrite/microbiologia , Artrite/terapia , Artrite Infecciosa/microbiologia , Artrite Infecciosa/terapia , Quadril/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Transtornos dos Movimentos/microbiologia , Transtornos dos Movimentos/terapia , Articulação Sacroilíaca/microbiologia , Infecções Estafilocócicas/sangue , Infecções Estafilocócicas/diagnóstico , Staphylococcus aureus/isolamento & purificação , Resultado do TratamentoRESUMO
Tardive dyskinesia (TD) is a serious, disabling and potentially permanent, neurological hyperkinetic movement disorder that occurs after months or years of taking dopamine receptor-blocking agents. The pathophysiology of TD is complex, multifactorial and still not fully understood. Although there is no identified effective and standard treatment for TD, several agents have been tried for the management of this motor disturbance. The aim of this case series is to review the literature in regard to the identification, diagnosis and the treatment of TD with anticholinergics, anticholinergic medication withdrawal, cholinergic agents, botulinum toxin intramuscular injections, tetrabenazine, levetiracetam, propranolol and zolpidem, and to describe one case of TD that responded favorably to clonazepam and two cases of TD that responded favorably to Ginkgo biloba.
Assuntos
Clonazepam/administração & dosagem , Ginkgo biloba , Azia/tratamento farmacológico , Transtornos dos Movimentos , Perfenazina/efeitos adversos , Extratos Vegetais/administração & dosagem , Adulto , Idoso , Antidiscinéticos/administração & dosagem , Diagnóstico Diferencial , Antagonistas de Dopamina/administração & dosagem , Antagonistas de Dopamina/efeitos adversos , Discinesia Induzida por Medicamentos/diagnóstico , Discinesia Induzida por Medicamentos/tratamento farmacológico , Discinesia Induzida por Medicamentos/etiologia , Feminino , Azia/diagnóstico , Humanos , Pessoa de Meia-Idade , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/etiologia , Perfenazina/administração & dosagem , Tomografia por Emissão de Pósitrons , Índice de Gravidade de Doença , Tomografia Computadorizada de Emissão de Fóton Único , Resultado do TratamentoRESUMO
I would like to talk about my memories of Professor Marsden, under whom I studied clinical neurophysiology for 2.5 years in London. He was an excellent clinical neurologist, who was always chasing something new; Professor Marsden was extraordinarily good at developing new research ideas. He also had a remarkable ability to bring doctors together, and inspire them with his leadership as they worked on joint projects. It was a great honor to have worked under Professor Marsden. It has also been a pleasure to work with Professor Rothwell.
Assuntos
Encéfalo/fisiopatologia , Transtornos dos Movimentos/história , Neurofisiologia/história , Inglaterra , História do Século XX , Humanos , Magnetoterapia , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/terapiaRESUMO
Movement disorders, which include disorders such as Parkinson's disease, dystonia, Tourette's syndrome, restless legs syndrome, and akathisia, have traditionally been considered to be disorders of impaired motor control resulting predominantly from dysfunction of the basal ganglia. This notion has been revised largely because of increasing recognition of associated behavioural, psychiatric, autonomic, and other non-motor symptoms. The sensory aspects of movement disorders include intrinsic sensory abnormalities and the effects of external sensory input on the underlying motor abnormality. The basal ganglia, cerebellum, thalamus, and their connections, coupled with altered sensory input, seem to play a key part in abnormal sensorimotor integration. However, more investigation into the phenomenology and physiological basis of sensory abnormalities, and about the role of the basal ganglia, cerebellum, and related structures in somatosensory processing, and its effect on motor control, is needed.
Assuntos
Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/fisiopatologia , Movimento/fisiologia , Animais , Gânglios da Base/fisiologia , Distonia/diagnóstico , Distonia/fisiopatologia , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Tálamo/fisiologiaRESUMO
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25.5 and 39 months in patients with mild and moderate DD/ID, respectively, and 11 years in patients with severe DD/ID. Increase of cerebral creatine and decrease of plasma/CSF guanidinoacetate levels were achieved by supplementation with creatine-monohydrate combined with high dosages of l-ornithine and/or an arginine-restricted diet (250 mg/kg/d l-arginine). Therapy was associated with improvement or stabilization of symptoms in all of the symptomatic cases. The 4 patients treated younger than 9 months had normal or almost normal developmental outcomes. One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes.
Assuntos
Arginina/metabolismo , Arginina/uso terapêutico , Creatina/metabolismo , Creatina/uso terapêutico , Glicina/análogos & derivados , Guanidinoacetato N-Metiltransferase/deficiência , Deficiência Intelectual/terapia , Transtornos do Desenvolvimento da Linguagem/terapia , Transtornos dos Movimentos/congênito , Ornitina/uso terapêutico , Benzoato de Sódio/uso terapêutico , Adolescente , Adulto , Encéfalo/metabolismo , Criança , Pré-Escolar , Terapia Combinada , Feminino , Glicina/sangue , Glicina/líquido cefalorraquidiano , Guanidinoacetato N-Metiltransferase/metabolismo , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/metabolismo , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/metabolismo , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/metabolismo , Transtornos dos Movimentos/terapia , Guias de Prática Clínica como Assunto , Resultado do Tratamento , Adulto JovemRESUMO
Rehabilitation robots can provide exercise for stroke survivors with weakness at the shoulder and elbow, but most do not facilitate hand movements. The aim was to combine robotics and functional electrical stimulation to facilitate exercise in stroke survivors with upper limb impairment. iPAM Mk II was used to assist active reaching in combination with an Odstock Pace stimulator to assist hand opening. The ABILHAND, Action Research Arm Test (ARAT) and the Stroke Impact Scale (SIS) were recorded at baseline and completion. Nine participants (eight males and one female; mean age = 58 years) were recruited; mean time since stroke was 16 months (range = 6-64). The ABILHAND at baseline was -2.73, improving to -1.45 at follow-up (p = 0.038). The ARAT changed from 4.1 to 2.6 (p = 0.180), and the SIS from 49 to 60 (p = 0.019). This study demonstrates that it is possible to combine two technologies in stroke rehabilitation.