Département des sciences fondamentales, Université du Québec à Chicoutimi, Québec, Canada.
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.
J Neurol. 2021 Nov;268(11):4221-4237. doi: 10.1007/s00415-021-10533-6. Epub 2021 Apr 27.
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.
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.
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.
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.
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.
肌强直性营养不良 1 型（DM1）是一种进行性、多系统的常染色体显性遗传病。肌肉萎缩和无力与受影响个体的功能能力受损和社会参与受限有关。该疾病的表现非常异质，其进展仍未得到充分记录。
本研究旨在记录 DM1 人群在 3 年内肌肉力量和功能能力的进展情况。
招募了 23 名具有青少年或成年表型的 DM1 患者，于 2016 年和 2019 年完成临床评估。采用定量肌肉测试评估最大等长肌肉力量（MIMS），采用 Mini-BESTest 评估功能能力，10m 步行测试（舒适和最大速度）、计时起立和行走测试（TUG）和 6 分钟步行测试。参与者还完成了三个问卷：DM1-Activ、上肢功能指数和下肢功能量表（LEFS）。进行了亚组分析，评估了性别、表型以及在 3 年期间进行的体育活动类型。
对于整个组，Mini-BESTest 和 LEFS 的评分显著下降。此外，抓握、横向捏以及髋关节外展肌、膝关节伸肌和踝关节背屈肌肌群的 MIMS 也显著下降。亚组分析显示，男性的 MIMS 下降比女性多，成年表型的 MIMS 下降比青少年表型多。
与功能测试相比，定量肌肉测试是在 3 年内更好地评估疾病进展的指标。表型和性别是影响 DM1 进展的重要因素。
