The proposal of a clinical protocol to assess central and peripheral fatigue in Myotonic Dystrophy type 1

摘要

DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature muscle weakness and fatigue are among the main symptoms of DM1. Oxidative stress has been proposed to be one of the pathogenic factors of fatigue consequent to DM1. In this study, we investigated the dimensions of experienced and physiological fatigue in a sample of 26 DM1 patients (17 males, 9 females, mean age 41.6 years, SD +/- 12.7); experienced fatigue has been studied through Fatigue Severity Scale (FSS), and physiological fatigue was measured through an intermittent incremental exercise of the forearm muscles using a myometer; oxidative stress balance markers trend during aerobic exercise test have been collected. The occurrence of central fatigue in the sample means that central activation worsens during the motor contraction; interestingly FSS score was significantly correlated to MVC (before and after the effort, r-before = -0.583, p < 0.01, r-after= -0.534, p < 0.05), and to motor disability measured by MRC (r = -0.496, p < 0.05); moreover we found a strong tendency towards significance in the association to lactate baseline (r = 0.378, p = 0.057). Results are discussed to define whether or not, based on clinical and laboratory grounds, such exercise training protocol may be suitable for proper management of DM1 patients; proper assessment of fatigue should be included in algorithms for data collection in DM1 patient registries.