Garmendia Joana, Labayru Garazi, de Souto Barreto Philipe, Vergara Itziar, de Munain Adolfo López, Sistiaga Andone
Department of Clinical and Health Psychology and Research Methodology, Psychology Faculty, University of the Basque Country (UPV/EHU), Donostia-San Sebastián, Gipuzkoa, Spain.
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, Spain.
Aging Dis. 2024 Aug 29;16(4):2120-2131. doi: 10.14336/AD.2024.0950.
Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder often considered a model of accelerated aging due to the early appearance of certain age-related clinical manifestations and cellular and molecular aging markers. Frailty, a state of vulnerability related to aging, has been recently studied in neurological conditions but has received considerably less attention in neuromuscular disorders. This narrative review aims to describe 1) the common characteristics between Fried's frailty phenotype criteria (muscular weakness, slow gait speed, weight loss, exhaustion/fatigue, and low physical activity) and DM1, and 2) the psychological and social factors potentially contributing to frailty in DM1. This review gathered evidence suggesting that DM1 patients meet four of the five frailty phenotype criteria. Additionally, longitudinal studies report the deterioration of these criteria over time in DM1. Patients also exhibit psychological/cognitive and social factors that might contribute to frailty. Monitoring frailty criteria in the DM1 population could help to implement timely preventions and interventions to reduce the disease burden and severity of frailty symptoms.
1型强直性肌营养不良症（DM1）是一种遗传性神经肌肉疾病，由于某些与年龄相关的临床表现以及细胞和分子衰老标志物的早期出现，常被视为加速衰老的模型。衰弱是一种与衰老相关的脆弱状态，最近在神经系统疾病中得到了研究，但在神经肌肉疾病中受到的关注要少得多。这篇叙述性综述旨在描述：1）弗里德衰弱表型标准（肌肉无力、步态速度缓慢、体重减轻、疲惫/疲劳和低体力活动）与DM1之间的共同特征；2）可能导致DM1患者衰弱的心理和社会因素。这篇综述收集的证据表明，DM1患者符合五项衰弱表型标准中的四项。此外，纵向研究报告了DM1患者这些标准随时间的恶化情况。患者还表现出可能导致衰弱的心理/认知和社会因素。监测DM1人群的衰弱标准有助于及时实施预防和干预措施，以减轻疾病负担和衰弱症状的严重程度。
