Efeitos do uso de órteses na Doença de Charcot-Marie-Tooth: atualização da literatura

Pereira, Rouse Barbosa; Orsini, Marco; Ferreira, Arthur de Sá; Silva, Julio Guilherme; Corrêa, Clynton Lourenço; Freitas, Marcos R. G. de; Coelho, Valéria Marques; Goulart, Mário Cézar; Kagohara, Nelson; Souza, Gabriela Guerra Leal; Menezes, Sara L. S.

doi:10.1590/s1809-29502012000400016

Cited by 3 publications

(9 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Gondim et al (2014) afirmam que foram encontrados 47 genes variantes da doença, todavia apenas 50% dos variantes foram identificados pela ciência, os subtipos raros ainda não foram descritos. Nesse mesmo estudo, os autores caracterizam seis principais tipos de CMT, os quais foram classificados de acordo com os achados clínicos neuromioelétricos e citogenéticos, porém os tipos I e II são mais referenciados na literatura 1,2,5,8,11,12,14,16 .…”

Section: Discussionunclassified

“…A Síndrome de Chacort-Marie-Tooth (CMT) é descrita como uma neuropatia hereditária motora e sensitiva (HMSNs) com diferentes características genéticas, podendo ser de forma autossômica recessiva, dominante ou ligada ao cromossomo X 1,2 . A doença apresenta vários padrões de herança e evolução clínica.…”

Section: Introductionunclassified

“…A fraqueza progressiva dá origem à hipotrofia e posteriormente a deformidades como o pé cavo e dedos em garra. Os distúrbios sensitivos podem estar presentes e são marcados por hipoestesias térmico-dolorosa, abolição ou hipoatividade de reflexos tendíneo, por episódios de câimbras e déficits no equilíbrio 2,22 .…”

Section: Introductionunclassified

See 2 more Smart Citations

Aspectos atuais da fisioterapia nas disfunções sensório-motoras em crianças com síndrome de Charcot-Marie-Tooth

Malkes

Albuquerque

Mendonça

et al. 2019

BJHR

View full text Add to dashboard Cite

RESUMOIntrodução: Síndrome de Chacort-Marie-Tooth é uma neuropatia hereditária com diferentes características genéticas e sinais clássicos bem descritos na literatura. Enquanto tratamento, o Ácido Ascórbico vem sendo testado visando promover a mielinização. O prognóstico depende da clínica apresentada, onde portadores desenvolvem compensações biomecânicas acarretando diminuição na velocidade de execução dos atos motores. Objetivo: Identificar intervenções atualmente utilizadas pela fisioterapia em crianças com Síndrome de Chacort-Marie-Tooth. Métodos: Revisão integrativa realizada nas bases de dados Scielo, Lilacs, Pubmed/Medline e Bireme. Na busca por descritores obteve-se 318 artigos. Realizou-se o fluxograma segundo PRISMA obtendo-se 96 artigos destes, 18 atenderam aos objetivos. Resultados: Os dados foram descritos e tabelados para a caracterização dos estudos, das crianças acometidas, dos instrumentos de diagnóstico e avaliação fisioterapêutica, bem como, dos protocolos de tratamento. A maioria dos estudos encontrados foi revisão de literatura e estudos de casos. As repercussões clínicas achadas relacionam-se às alterações biomecânicas nos membros inferiores, principalmente pés, com progressão gradual para outros segmentos. O diagnóstico foi dado mais frequentemente através da eletroneuromiografia. Identificou-se uma variedade de instrumentos avaliativos. Discussão: Ao se falar em aspectos atuais nas disfunções sensóriomotoras, poucas inovações são descritas. A necessidade de atenção nas identificações dos casos é destacada de forma a possibilitar a inserção dos portadores em atividades de caráter preventivo e no âmbito social. Conclusão: A fisioterapia convencional se mantém relevante como tratamento e das inovações identificadas, a gameterapia traz novas perspectivas funcionais. Destaca-se a utilização dos diversos testes e escalas conceituados, uma vez que possibilita a fisioterapia baseada em evidência.Palavras chave: Doença de Charcot-Marie-Tooth; Fisioterapia; Atividade Motora. ABSTRACTIntroduction: Chacort-Marie-Tooth syndrome is a hereditary neuropathy with different genetic characteristics and classic signs well described in the literature. As the treatment, Ascorbic Acid has been tested in order to promote myelination. The prognosis depends on the clinical presentation, where the patients develop biomechanical compensations causing a decrease in the speed of execution of the motor acts. Objective: To identify interventions currently used by physical therapy in children with Chacort-Marie-Tooth Syndrome. Methods: Integrative review performed in the databases Scielo, Lilacs, Pubmed / Medline and Bireme. The search for descriptors yielded 318 articles. The flowchart according to PRISMA was obtained, obtaining 96 articles of these, 18 met the objectives. Results: The data were described and tabulated for the characterization of the studies, the children affected, the diagnostic instruments and physiotherapeutic evaluation, as well as the treatment protocols. Most of the studies found were the literatur...

show abstract

Section: Discussionunclassified

Section: Introductionunclassified

See 1 more Smart Citation

Aspectos atuais da fisioterapia nas disfunções sensório-motoras em crianças com síndrome de Charcot-Marie-Tooth

Malkes

Albuquerque

Mendonça

et al. 2019

BJHR

View full text Add to dashboard Cite

show abstract

“…Deficits in plantar flexion are also observable, in addition to a decrease in the length and width of steps, increased base of support, and steppage gait 5,6 . Rehabilitation resources have been proposed with the purpose of improving gait 6,7 , in special the use of AnkleFoot Orthoses (AFO) 8 . AFOs are commonly prescribed for musculoskeletal disorders of the ankle and/or subtalar joints for the purposes of stabilizing knee joints during the swing phase and avoiding plantar flexion during the initial contact phase 9,10 .…”

Section: Introductionmentioning

confidence: 99%

“…From a clinical perspective, patients with CMT who use AFOs usually experience the disease more severely, as the physical and psychological discomfort caused by this device lead many patients to abandon treatment 11,13,15 . Furthermore, rehabilitating patients with CMT by means of using AFOs can lower costs in public health, since CMT is a chronic, progressive and incurable disease 8 . In the Unified Health System, orthoses and other orthopedic devices are good intervention options, due to the low costs incurred in their production and because they contribute in cutting down rehabilitation expenses, in addition to reducing the potential future demand for other health services 22 .…”

Section: Introductionmentioning

confidence: 99%

Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

et al. 2014

Self Cite

View full text Add to dashboard Cite

| 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.

show abstract

Functional Kinetic Profile in Charcot Marie Tooth Carrier

Silva

2023

JHS

View full text Add to dashboard Cite

Charcot Marie Tooth (CMT) is an autosomal dominant Mendelian neurological disease. It is characterized by weakness and progressive muscle atrophy, initially in the distal muscles of the lower limbs and later in the upper limbs, sensory and motor alterations, deformities in the feet, later affecting the hands. The role of physiotherapy in patients with CMT is to maintain a safe and effective gait, minimize the manifestations of the disease and optimize the function that patients have. Objective: To verify the functional kinetic profile of individuals with CMT from the ``Associação Brasileira dos Portadores de Charcot Marie Tooth`` in different types of the disease. Method: Prospective investigative study. 17 questionnaires from volunteers of both sexes, over 18 years old, with CMT disease, were included. through an electronic questionnaire. Results: Through the data obtained, it was possible to identify the main functional kinetic changes in patients with CMT. Conclusion: Based on the results obtained through the questionnaires, the functional kinetic profile of the ABCMT member volunteers was verified. Where average age, onset of symptoms, most frequent type was related. Gait quality, balance, use of aids, tendon reflexes and degree of disability through a neurological score -adapted. onset of symptoms, most frequent type. Gait quality, balance, use of aids, tendon reflexes and degree of disability through a neurological score -adapted. onset of symptoms, most frequent type. Gait quality, balance, use of aids, tendon reflexes and degree of disability through a neurological score -adapted.

show abstract

Efeitos do uso de órteses na Doença de Charcot-Marie-Tooth: atualização da literatura

Cited by 3 publications

References 14 publications

Aspectos atuais da fisioterapia nas disfunções sensório-motoras em crianças com síndrome de Charcot-Marie-Tooth

Aspectos atuais da fisioterapia nas disfunções sensório-motoras em crianças com síndrome de Charcot-Marie-Tooth

Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

Functional Kinetic Profile in Charcot Marie Tooth Carrier

Contact Info

Product

Resources

About