Guber Robert D, Kokkinis Angela D, Schindler Alice B, Bendixen Roxanna M, Heatwole Chad R, Fischbeck Kenneth H, Grunseich Christopher
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive Bethesda, Maryland, 20892, USA.
Department of Occupational Therapy, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Muscle Nerve. 2018 Jan;57(1):40-44. doi: 10.1002/mus.25957. Epub 2017 Sep 25.
The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective and the impact these symptoms have on QoL.
We conducted open-ended interviews with 21 adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to identify symptoms and resulting themes.
From these interviews, 729 quotations were extracted. We identified 200 SBMA-specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned.
Numerous symptoms affect QoL for patients with SBMA. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA and in developing tools to evaluate efficacy in future clinical trials. Muscle Nerve 57: 40-44, 2018.
脊髓延髓肌肉萎缩症（SBMA）对生活质量（QoL）的影响尚未得到充分了解。本研究从患者角度描述症状以及这些症状对生活质量的影响。
我们对21名经基因确诊的成年男性SBMA患者进行了开放式访谈。采用定性框架技术，我们对访谈进行编码和分析，以确定症状及由此产生的主题。
从这些访谈中提取了729条引述内容。我们确定了200种特定于SBMA的症状和20个症状主题。所有受访者都提到了虚弱。心理健康领域的症状以及情感问题和心理影响等特定主题也经常被提及。
众多症状影响着SBMA患者的生活质量。我们发现了一些先前未被认识到的症状，这些症状对于加强SBMA患者的临床护理以及开发未来临床试验中评估疗效的工具具有重要意义。《肌肉与神经》57: 40 - 44, 2018。
