THE ROLE OF MOTOR UNIT NUMBER ESTIMATION (MUNE) IN SMA ADULTS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 这是一项研究，旨在收集有关成年脊肌萎缩症(SMA)患者的信息。这种疾病的特点是脊髓运动神经细胞的丢失。这些神经供应身体的肌肉，它们的丧失会导致虚弱和运动功能的丧失。这种疾病是一种遗传性疾病，患者与生俱来。为了帮助计划未来的治疗试验，需要有关确定疾病严重程度和进展的方法的信息。在这项研究中，我们计划使用电学研究来估计存活的运动神经的数量，并观察这个数字如何随着时间的推移在患者身上发生变化。这是通过记录电极刺激和轻微电击后肌肉产生的电反应来测量小指肌肉的大小。我们还会将这些结果与手动(即通过推动和拉动肌肉)或通过计算机测试获得的肌肉力量测量进行比较。我们还计划观察肌肉功能、生活质量问卷和肺功能的测量。这项研究要求在两年的时间里，分别在0、3、6、12、18和24个月期间到门诊就诊6次半天。希望这项技术将为医生和研究人员提供一种有用的方法来记录疾病的进展以及任何治疗方法对疾病的影响。 本研究基于这样一种假设，即运动单位数估计(MUNE)的电生理技术在评估成人SMA的疾病严重程度和进展方面可能优于复合肌肉动作电位(CMAP)。具体目标有四个： 1.确定成年SMA患者的MUNE值和CMAP波幅与正常年龄和性别匹配的对照组的MUNE值和CMAP波幅的比较； 2.探讨2型和3型SMA患者的MUNE和CMAP值是否存在差异； 3.探索MUNE和CMAP值与这些患者疾病严重程度的其他测量指标之间的相关性，包括肌肉力量[通过手动和计算机(固定和手持测力)测试来确定]、功能分级量表、肺功能和自我评估的生活质量工具； 4.MUNE和CMAP如何随时间变化，这些与具体目标3中提到的其他参数的变化相比如何。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This is a research study to collect information about adult patients with spinal muscular atrophy (SMA). This disease is charcterized by loss of motor nerve cells from the spinal cord. These nerves supply the muscle of the body and their loss results in weakness and loss of motor function. The disease is a genetic disease, and patients are born with it. To help plan future theraputic trials, information about ways to determine the severity of the disease and its progression are needed. In this study we plan to use an electrical study to estimate the number of the surviving motor nerves and see how this number changes over time in patients. This is done by measuring how big the muscle size is in the little finger through recording the electrical response generated by the muscle after stimulation with electrode and a slight electrical shock. We will also compare these results with measures of muscle strength obtained manually (ie, by pushing and pulling on the muslces) or through computerized testing. We also plan to look at muscle functional abilities, quality of life questionaires, and measurements of lung function. The study requires six half day visits to the outpatient clinic in a two-year period; at 0,3,6,12,18, and 24 months. The hope is that this technique will provide physicians and researchers with a useful method to document the progression of the disease as well as the effects of any therapy on the disease. This study is based on the hypothesis that the electrophysiological technique of motor unit number estimation (MUNE) may be superior to the compound muscle action potential (CMAP) in assessing the severity and progression of disease in adults with SMA. There are four specific aims: 1. To determine how MUNE values and CMAP amplitudes in adult patients with SMA compare to the values of these parameters found in normal age and sex-matched controls; 2. To assess whether there are differences in MUNE and CMAP values between types 2 and type 3 adults with SMA; 3. To explore how MUNE and CMAP values correlate with other measures of disease severity in these patients, including muscle strength [determined by both manual and computerized (fixed and hand-held dynamometry) testing], functional rating scales, pulmonary function, and a self-assessed quality of life instrument; 4. How do MUNE and CMAP change over time, and how do these compare to changes in the other parameters mentioned in Specific Aim 3.