Marie-Pier Roussel1,2,3,4, Marie-Michèle Fiset5, Laurie Gauthier5, Claudia Lavoie5, Émilie McNicoll5, Laurie Pouliot5, Cynthia Gagnon2,3,6, Elise Duchesne7,8,9,10. 1. Département des sciences fondamentales, Université du Québec à Chicoutimi, Québec, Canada. 2. Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Hôpital de Jonquière, Québec, Canada. 3. Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé (CR-CSIS), Université de Sherbrooke, Québec, Canada. 4. Centre Intersectoriel en Santé Durable (CISD), Université du Québec à Chicoutimi, Québec, Canada. 5. Unité d'enseignement en physiothérapie, Département des sciences de la santé, Université du Québec à Chicoutimi, 555, boul. de l'Université, Chicoutimi, Québec, G7H 2B1, Canada. 6. Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada. 7. Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Hôpital de Jonquière, Québec, Canada. elise1_duchesne@uqac.ca. 8. Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé (CR-CSIS), Université de Sherbrooke, Québec, Canada. elise1_duchesne@uqac.ca. 9. Centre Intersectoriel en Santé Durable (CISD), Université du Québec à Chicoutimi, Québec, Canada. elise1_duchesne@uqac.ca. 10. Unité d'enseignement en physiothérapie, Département des sciences de la santé, Université du Québec à Chicoutimi, 555, boul. de l'Université, Chicoutimi, Québec, G7H 2B1, Canada. elise1_duchesne@uqac.ca.
Abstract
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic, and autosomal dominant disease. Muscle wasting and weakness have been associated with impaired functional capacity and restricted social participation in affected individuals. The disease's presentation is very heterogenous and its progression is still under-documented. OBJECTIVE: The aim of the study was to document the progression of muscular strength and functional capacity in the DM1 population over a 3-year period. METHODS: Twenty-three individuals with juvenile or adult phenotypes of DM1 were recruited to complete clinical assessments in 2016 and 2019. Maximal isometric muscle strength (MIMS) was evaluated with quantified muscle testing and functional capacity was evaluated with the Mini-BESTest, the 10-m walk test at comfortable and maximal speeds, the Timed Up and Go and the 6-min walk test. Participants also completed three questionnaires: DM1-Activ, Upper Extremity Functional Index and Lower Extremity Functional Scale (LEFS). Subgroup analyses were evaluated for sex, phenotype, and type of physical activity practiced during the 3-year period. RESULTS: For the whole group, there was a significant decline in the scores of the Mini-BESTest and the LEFS. Also, MIMS significantly declined for prehension, lateral pinch as well as for hip abductors, knee extensors and ankle dorsiflexors muscle groups. Subgroups analyses revealed that men lost more MIMS than women, and that adult phenotype lost more MIMS than juvenile phenotype. CONCLUSION: Quantified muscle testing is a better indicator of disease progression over a 3-year period than functional tests. Phenotype and sex are important factors that influence the progression of DM1.
INTRODUCTION:Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic, and autosomal dominant disease. Muscle wasting and weakness have been associated with impaired functional capacity and restricted social participation in affected individuals. The disease's presentation is very heterogenous and its progression is still under-documented. OBJECTIVE: The aim of the study was to document the progression of muscular strength and functional capacity in the DM1 population over a 3-year period. METHODS: Twenty-three individuals with juvenile or adult phenotypes of DM1 were recruited to complete clinical assessments in 2016 and 2019. Maximal isometric muscle strength (MIMS) was evaluated with quantified muscle testing and functional capacity was evaluated with the Mini-BESTest, the 10-m walk test at comfortable and maximal speeds, the Timed Up and Go and the 6-min walk test. Participants also completed three questionnaires: DM1-Activ, Upper Extremity Functional Index and Lower Extremity Functional Scale (LEFS). Subgroup analyses were evaluated for sex, phenotype, and type of physical activity practiced during the 3-year period. RESULTS: For the whole group, there was a significant decline in the scores of the Mini-BESTest and the LEFS. Also, MIMS significantly declined for prehension, lateral pinch as well as for hip abductors, knee extensors and ankle dorsiflexors muscle groups. Subgroups analyses revealed that men lost more MIMS than women, and that adult phenotype lost more MIMS than juvenile phenotype. CONCLUSION: Quantified muscle testing is a better indicator of disease progression over a 3-year period than functional tests. Phenotype and sex are important factors that influence the progression of DM1.
Entities:
Keywords:
Function; Maximal muscle strength; Myotonic dystrophy type 1; Natural history study; Quantitative muscle testing; Rehabilitation
Authors: Nicoline B M Voet; Elly L van der Kooi; Ingrid I Riphagen; Eline Lindeman; Baziel G M van Engelen; Alexander C H Geurts Journal: Cochrane Database Syst Rev Date: 2013-07-09
Authors: Adam P Vogel; Natalie Rommel; Andreas Oettinger; Lisa H Stoll; Eva-Maria Kraus; Cynthia Gagnon; Marius Horger; Patrick Krumm; Dagmar Timmann; Elsdon Storey; Ludger Schöls; Matthis Synofzik Journal: J Neurol Date: 2018-07-02 Impact factor: 4.849