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Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Lessard, Isabelle; St-Gelais, Raphaël; Hébert, Luc J; Côté, Isabelle; Mathieu, Jean; Brais, Bernard; Gagnon, Cynthia.
Afiliación
  • Lessard I; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.
  • St-Gelais R; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada.
  • Hébert LJ; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.
  • Côté I; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada.
  • Mathieu J; Départements de réadaptation et de Radiologie et médecine nucléaire, Faculté de médecine, Université Laval, Quebec, QC, Canada.
  • Brais B; Centre interdisciplinaire de recherche en réadaptation et intégration sociale (CIRRIS), Institut de réadaptation en déficience physique de Québec, Quebec, QC, Canada.
  • Gagnon C; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.
Orphanet J Rare Dis ; 16(1): 432, 2021 10 14.
Article en En | MEDLINE | ID: mdl-34649570
BACKGROUND: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). RESULTS: Twenty-five participants were recruited with a mean age of 32.2 (± 10.4) years with 45.7% using a walking aid. There is a significant difference between participants with and without a walking aid in terms of lower limbs coordination, balance and mobility. Although participants who walk without a walking aid perform better than the others and they are below predictive or reference values. Despite significant mobility limitations, only mild spasticity and passive range of motion limitations were observed. However, there is a significant difference between unaffected individuals and participants with ARSACS for lower limb muscle cocontraction. CONCLUSIONS: Results show a high level of lower limb impairments, balance and mobility limitation in adults' participants with ARSACS that are still walking, including people not using a walking aid. One of the most original finding is the presence of excessive cocontraction and a relatively mild level of spasticity in the lower limbs muscles. Results of this study better circumscribes the impairments and activities that should be the focus of intervention including rehabilitation in ARSACS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido