Abstract：
Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia affects patients\' lives, the IMPACT survey, an online questionnaire on patient-reported outcomes, was developed based on international IMPACT questionnaire. The French IMPACT 2022 survey was completed by 47 NDM French patients. Besides muscle stiffness (98%), patients reported muscle pain (83%), falls (70%) and anxiety (77%). These issues negatively impacted abilities to work/study (49%), daily life at home (49%) and overall mobility outside (49%). Most patients (96%) reported ongoing pharmacological treatment (mexiletine, 91%) associated with improvement in muscle stiffness (100%) and reduction in falls (94%), muscle pain (87%) and anxiety (80%). Patients were moderately satisfied (19.1%), satisfied (42.6%) and very satisfied (29.8%) with the current management; 32% rated their quality of life positively (≥ 8 on 10-point scale). In conclusion, this French survey confirms the impact of myotonia on daily life and quality of life. The improvement in patient-reported outcomes in treated participants highlights the importance of managing myotonia with effective treatments. More work should be initiated to assess the importance of NDM symptom management and patients\' adherence and compliance to treatment.
摘要：
非营养不良性肌痛（NDM）是影响生活质量的致残遗传疾病。为了减少NDM的影响，患者制定应对策略，如生活方式适应和避免关键触发因素。为了了解肌强直如何影响患者的生活，影响调查，关于患者报告结果的在线问卷，是根据国际影响问卷制定的。法国IMPACT2022调查由47名法国NDM患者完成。除了肌肉僵硬（98%），患者报告肌肉疼痛（83%），跌倒（70％）和焦虑（77％）。这些问题对工作/学习能力产生负面影响（49%），家庭日常生活(49%)和外部整体流动性(49%)。大多数患者（96％）报告正在进行药物治疗（美西律，91％）与改善肌肉僵硬（100％）和减少跌倒（94％）相关，肌肉疼痛（87％）和焦虑（80％）。患者中度满意（19.1％），对目前的管理感到满意（42.6％）和非常满意（29.8％）；32％的人对他们的生活质量给予正面评价（10分表≥8）。总之,这项法国调查证实了肌强直对日常生活和生活质量的影响。在接受治疗的参与者中，患者报告结果的改善凸显了用有效治疗来管理肌强直的重要性。应开展更多的工作来评估NDM症状管理的重要性以及患者对治疗的依从性和依从性。
