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Abstract(s)
O tremor essencial é uma das patologias mais comuns entre as patologias do sistema nervoso,
sendo que é vista frequentemente pelos médicos neurologistas. Estima-se que a prevalência a
nível mundial desta doença se situe entre os 0,41% e os 3,92%.
Apesar de não haver uma causa definida para a doença, o que faz com que a sua etiologia
ainda permaneça, em grande parte, desconhecida dados recentes indicam-nos que a patologia
ocorre com um padrão familiar, embora se tenha verificado que também pode ocorrer de
forma esporádica. Foram identificados até ao momento pelo menos 3 genes que podem
aumentar a suscetibilidade para o tremor essencial: ETM1, ETM2 e ETM3. Existem também
evidências que alguns fatores de risco podem contribuir para o surgimento da patologia, entre
eles o álcool, o chumbo e os alcaloides do grupo das β-carbolinas. A evidência atual indicanos
que o tremor essencial é uma doença neurodegenerativa, em que há envolvimento
seletivo, tanto anatomicamente como fisiologicamente, de um sistema organizado de
neurónios, mais especificamente as células de Purkinje; para além disso, a patologia pode
eventualmente afetar sistemas não- motores, como por exemplo, a cognição e o olfato.
O tremor essencial é definido classicamente por um tremor de ação (postural ou cinético),
bilateral, em grande parte simétrico, que afeta mais frequentemente os braços e a cabeça e
que é visível e persistente. O diagnóstico diferencial é feito principalmente com a doença de
Parkinson.
As possibilidades terapêuticas para o tratamento do tremor essencial usadas hoje em dia
foram descobertas por tentativa-erro, sendo estas originalmente concebidos para outras
patologias. Os dois únicos fármacos com eficácia estabelecida para a patologia são o
Propranolol e a Primidona, sendo que a cirurgia está recomendada para casos mais graves e
refratários. Em estudo continuam futuras possibilidades terapêuticas.
Essential tremor is one of the most common diseases among the pathologies of the nervous system, which is seen frequently by neurologists. It is estimated that the worldwide prevalence of this disease is between 0.41% and 3.92%. Although there is no definite cause for the disease, which causes its etiology to remain still largely unknown, recent data indicates that the pathology occurs with a familiar pattern, although it has been found that it can also occur in a sporadic way. Until today three loci have been identified that may increase the susceptibility to essential tremor: ETM1, ETM2 and ETM3. There is also evidence that some risk factors may contribute to the arising of the disease, among them alcohol, lead and the alkaloids group of β-carbolines. Current evidence indicates that essential tremor is a neurodegenerative disorder in which there is selective involvement, both anatomically and physiologically, of an organized system of neurons, more specifically Purkinje cells; moreover the condition can eventually affect non-motor systems, for example, cognition and smell. Essential tremor is classically defined by an action tremor (postural or kinetic), bilaterally, mostly symmetrical, which affects more often arms and head and that is visible and persistent. The differential diagnosis is made primarily with Parkinson's disease. The therapeutic possibilities for the treatment of essential tremor used nowadays were discovered by trial-error, these being originally designed for other diseases. The only two drugs with established efficacy to the pathology are Propranolol and Primidone, with the surgery being recommended for more severe cases and refractories. Future therapeutic possibilities are now being studied.
Essential tremor is one of the most common diseases among the pathologies of the nervous system, which is seen frequently by neurologists. It is estimated that the worldwide prevalence of this disease is between 0.41% and 3.92%. Although there is no definite cause for the disease, which causes its etiology to remain still largely unknown, recent data indicates that the pathology occurs with a familiar pattern, although it has been found that it can also occur in a sporadic way. Until today three loci have been identified that may increase the susceptibility to essential tremor: ETM1, ETM2 and ETM3. There is also evidence that some risk factors may contribute to the arising of the disease, among them alcohol, lead and the alkaloids group of β-carbolines. Current evidence indicates that essential tremor is a neurodegenerative disorder in which there is selective involvement, both anatomically and physiologically, of an organized system of neurons, more specifically Purkinje cells; moreover the condition can eventually affect non-motor systems, for example, cognition and smell. Essential tremor is classically defined by an action tremor (postural or kinetic), bilaterally, mostly symmetrical, which affects more often arms and head and that is visible and persistent. The differential diagnosis is made primarily with Parkinson's disease. The therapeutic possibilities for the treatment of essential tremor used nowadays were discovered by trial-error, these being originally designed for other diseases. The only two drugs with established efficacy to the pathology are Propranolol and Primidone, with the surgery being recommended for more severe cases and refractories. Future therapeutic possibilities are now being studied.
Description
Keywords
Tremor essencial Tremor essencial - Diagnóstico Tremor essencial - Tratamento Tremor essencial - Neuropatologia Tremor essencial - Distúrbio do movimento
Citation
Publisher
Universidade da Beira Interior