Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature review assessed data related to pain from CMT to determine its prevalence, type and importance as a symptom, which, unlike other symptoms, is likely to be treated. The research encompassed 2007 to 2017 and included five articles that addressed pain from CMT. All of the papers concurred that pain is frequently present in CMT patients, yet its classification remains undefined as there has been no consensus in the literature about the mechanisms that cause it.Keywords: Charcot-Marie-Tooth disease; pain. RESUMOA doença de Charcot-Marie-Tooth (CMT), a neuropatia periférica hereditária mais comum, tem a dor como uma de suas características clínicas, a qual permanece subdiagnosticada e subtratada. Essa revisão de literatura avaliou os dados relacionados à dor em CMT com objetivo de observar sua prevalência, tipo e importância como sintoma que, em detrimento de outros, é possível ser tratado. O intervalo da pesquisa foi entre 2007 e 2017, através de cinco artigos abordando a dor em CMT. Todos os artigos concordam que a dor é frequente nos pacientes com a doença de CMT e a sua classificação permanece indefinida por não haver consenso na literatura sobre os mecanismos da dor.Palavras-chave: doença de Charcot-Marie-Tooth; dor.
RESUMO | A Doença de Charcot-Marie-Tooth (DCMT) é a neuropatia periférica hereditária mais comum em seres humanos, apresentando incidência de 1:2.500 pessoas. A fraqueza distal crural na DCMT provoca inúmeras alterações na marcha, como, por exemplo, na velocidade, no comprimento, na largura e cadência dos passos. Vários recursos em reabilitação têm sido propostos para gerenciar os problemas de deambulação, dentre eles, destaca-se a utilização de órteses. O objetivo deste estudo é apresentar e discutir os resultados de estudos sobre os efeitos da utilização de órteses nos padrões de marcha na DCMT. Neste estudo foi utilizada atualização da literatura através das principais bases de dados nacionais/internacionais (SciELO, LILACS e MEDLINE), publicados entre os anos de 2006-2012. O tratamento da DCMT consiste em fisioterapia e utilização de equipamentos de assistência, visto que ainda não há fármacos ou terapia gênica capaz de atenuar os danos clínicos e funcionais. Tal associação busca maximizar a função e melhorar a qualidade de vida desses pacientes, na tentativa de evitar agravos adicionais relativos à incapacidade física. A partir de atualização de literatura é possível concluir que existe consenso sobre a utilização de órteses nos membros inferiores para promover a estabilização das articulações do tornozelo e um padrão de deambulação mais funcional, evitando sinergias inadequadas de movimento e atenuando o risco de quedas.Descritores | Doença de Charcot-Marie-Tooth; Aparelhos Ortopédicos; Reabilitação.ABSTRACT | Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy in humans, presenting incidence of 1:2.500 people. The distal crural weakness of the CMT causes numerous gait impairment changes, for example, velocity, length, width and cadence of the steps. Several rehabilitation resources have been proposed to manage the walking problems, among them, the use of orthoses is highlighted. The objective of this study was to present and discuss the results of studies on the effects of orthotic uses in CMT gait patterns. In this study it was used to literature update through major national/international databases (SciELO, LILACS and MEDLINE), published between the years 2006-2012. The CMT treatment consisted of physical therapy and using of assistive equipment, since there are no drugs or gene therapy able to attenuate the clinical and functional damages. This association seeks to maximize the function and improve life quality of these patients in an attempt to prevent additional injuries related to physical disability. From literature update it is possible to conclude that there is a consensus on the use of lower limb orthoses to promote the stabilization of the ankle articulation and a more functional pattern of walking, avoiding inadequate synergy of movement and reducing the risk of falls.
| The Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy with progressive distal muscle atrophy and weakness, mainly in lower limbs, that evolves limiting the gait and balance. The objective of the study was to analyse the immediate effects of using Ankle-Foot Orthosis (AFO) in the gait's kinematics and balance in patients with CMT. Nine individuals were evaluated by Tinetti scales and Dynamic Gait Index (DGI) and gait's kinematics parameters through the motion capturing system. These evaluations were done before and during the use of AFO. Two-Way repeated analysis of variance was done to try the main or interaction effects related to "orthoses" and "repetition". A significant interaction effect was observed between the gait cycle and use the AFO to the average velocity (Wilks' Lambda=0.156, p=0.030, η 2 =0.844) like significant main effects in the ankle joint to the gait cycle (Wilks' Lambda=0.091, p=0.008, η 2 =0.909) and the use of AFO (Wilks' Lambda=0.444, p=0.013, η 2 =0.556). It was observed a significant change in the DGI scale during the use of AFO (p<0.05). The use of AFO promoted immediate effects on gait kinematics and in balance reactions. The results suggest that the use of AFO is an efficient strategy to stabilize the ankle joint, besides avoiding foot drop in patients with CMT.
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