1A型夏科-马里-图思病症状影响的患者识别。
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
作者信息
Johnson Nicholas E, Heatwole Chad R, Ferguson Michele, Sowden Janet E, Jeanat Shanie, Herrmann David N
机构信息
Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA.
出版信息
J Clin Neuromuscul Dis. 2013 Sep;15(1):19-23. doi: 10.1097/CND.0b013e31829e22e3.
OBJECTIVE
The burden of Charcot-Marie-Tooth type 1A (CMT1A), the most common inherited peripheral neuropathy, including impact on patient quality of life (QOL) is not well understood. This study aims to qualitatively describe the range of symptoms associated with CMT1A and impact on QOL.
METHODS
We performed qualitative interviews with 16 adult CMT1A patients. Each interview was analyzed using a qualitative framework technique to identify and index symptoms by theme.
RESULTS
Sixteen patients provided 656 quotes. One hundred forty-five symptoms of importance were identified representing 20 symptomatic themes. Symptoms associated with difficulty with mobility and ambulation, specific activity impairment, and emotional distress were the most frequently mentioned.
CONCLUSIONS
Multiple symptoms contribute to CMT1A disease burden, some previously underrecognized. Improved recognition of underrecognized symptoms will optimize patient care and QOL.
目的
腓骨肌萎缩症1A型（CMT1A）是最常见的遗传性周围神经病，其负担，包括对患者生活质量（QOL）的影响，目前尚不清楚。本研究旨在定性描述与CMT1A相关的症状范围及其对生活质量的影响。
方法
我们对16名成年CMT1A患者进行了定性访谈。每次访谈都采用定性框架技术进行分析，以按主题识别和索引症状。
结果
16名患者提供了656条引述。共识别出145个重要症状，代表20个症状主题。与行动和行走困难、特定活动障碍以及情绪困扰相关的症状被提及的频率最高。
结论
多种症状导致CMT1A疾病负担，其中一些症状此前未得到充分认识。提高对未被充分认识症状的认知将优化患者护理和生活质量。
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