Limitações do uso de órteses tornozelo-pé na doença de Charcot-Marie-Tooth: estudo de caso / Limitations of ankle-foot-orthosis use in Charcot-Marie-Tooth disease: a case study

A paresia distal crural, muito marcante nos pacientes com doença de Charcot-Marie-Tooth (CMT), provoca inúmeras alterações nos padrõesda marcha. Vários recursos de reabilitação têm sido propostos para gerenciar os problemas de deambulação, entre eles a utilização de órteses tornozelo-pé (OTP). O objetivo deste trabalho foi analisar efeitos imediatos do uso de OTP na cinemática da marcha e nos parâmetros estabilométricos em paciente com CMT. Buscou-se avaliar: o equilíbrio e a marcha, por meio da Escala de Avaliação da Mobilidade Orientada pelo Desempenho (POMA); a cinemática da marcha, com o sistema Qualisys Track Manager (QTM); e a estabilometria, utilizando a plataforma de força. As avaliações foram realizadas antes e durante o uso de OTP. Observou-se declínio na escala POMA durante o uso da OTP de 11%. Na cinemática da marcha, verificou-se decréscimo na velocidade e comprimento da passada, assim comoaumento na duração dela. Na estabilometria, observou-se aumento na velocidade médio-lateral e na velocidade média na condição sem restrição visual, e aumento em todos os parâmetros de velocidade e deslocamento na condição com restrição visual durante o uso da OTP. O paciente avaliado não apresentou melhoras imediatas com aplicação de OTP, fato justificado pela presença de contraturas e tempo de evolução da doença. A prescrição de órteses na CMT deve respeitar as particularidades do paciente e a forma de apresentação da patologia.

The distal crural weakness, very striking in patients with Charcot-Marie-Tooth disease (CMT), causes gait impairment. Several rehabilitationapproaches have been proposed to manage the ambulation problems, among them, the use of ankle-foot orthosis (AFO). The objective of this study is to analyze the immediate effects of using AFO in the gait kinematic and stabilometric parameters in a patient with CMT. We evaluated the balance and the gait using Performance Oriented Mobility Assessment (POMA) Scale, gait kinematics using the Qualisys Track Manager (QTM) system and stabilometry, using a force platform. The evaluations were performed before and during the use of AFO. A decreasing of POMA scores was observed when the patient used AFO (11%). In the gait kinematic a decrease was verified in the speed gait and step length, as an increase in the time. In the stabilometry was observed an increase in the mediolateral velocity and average velocity in the condition without visual restrictionand an increase in all parameters of velocity and displacement in thecondition with visual restriction during the use of the AFO. The assessedpatient didn?t present immediate improvement with the AFO due to contractures presented and the time of the disease course. Prescription of orthosis in the CMT should respect the patient?s particularities and the clinical manifestations, and the way the pathology is presented.

Amyotrophic lateral sclerosis: one or multiple causes?

The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients.