Studies Of Hereditary Neurological Disease: Clinical Trials

为了确定脊髓延髓肌萎缩症（SBMA）患者所经历的症状的频率和相对重要性，我们对232名患有该疾病的参与者进行了一项横断面研究。参与者提供了关于影响SBMA患者的18个主题和208个症状的输入。参与者被问及每种症状的相对重要性，并进行分析，以确定年龄，教育程度，疾病持续时间，CAG重复长度和Amphetamine状态与症状患病率的关系。髋关节、大腿或膝关节无力（96.5%）、疲劳（96.5%）、手和手指问题（95.7%）和行走受限（95.7%）是研究人群中患病率最高的主题。非卧床状态与14个主题中的9个主题的患病率相关，CAG重复长度和教育分别与14个主题中的4个主题相关。疲劳的患病率在CAG重复长度较低的患者中降低，并随着疾病持续时间的延长而增加。年轻患者报告情绪问题的患病率较高。 总体而言，我们确定了对SBMA患者重要的多种主题。这些主题代表了未来治疗干预的具有临床意义的结局指标。

To determine the frequency and relative importance of symptoms experienced by patients with spinal and bulbar muscular atrophy (SBMA) we conducted a cross-sectional study of 232 participants with the disease. Participants provided input regarding 18 themes and 208 symptoms that affect SBMA patients. Participants were asked about the relative importance of each symptom, and analysis was done to determine how age, education, disease duration, CAG repeat length, and ambulation status relate to symptom prevalence. Hip, thigh, or knee weakness (96.5%), fatigue (96.5%), problems with hands and fingers (95.7%), and limitations with walking (95.7%) were the themes with the highest prevalence in the study population. Ambulatory status was associated with the prevalence of 9 of the 14 themes, and CAG repeat length and education were each associated with 4 of 14 themes. The prevalence of fatigue was reduced in those with a lower CAG repeat length and increased with a longer disease duration. Younger patients reported a higher prevalence of emotional issues. Overall, we identified a diversity of themes that are important to patients with SBMA. These themes represent clinically meaningful outcome measures for future therapeutic interventions.