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的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 中心，不一定是研究者的机构。 这是一项旨在收集脊髓性肌萎缩症（SMA）成人患者信息的研究。这种疾病的特征是脊髓运动神经细胞的丢失。 这些神经供应身体的肌肉，它们的损失导致虚弱和运动功能的丧失。 这种疾病是一种遗传性疾病，患者与生俱来就患有这种疾病。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及其进展的方法的信息。在这项研究中，我们计划使用电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而变化。 这是通过测量小指的肌肉大小来完成的，通过记录电极刺激和轻微电击后肌肉产生的电反应。我们还将这些结果与手动（即通过推拉肌肉）或通过计算机测试获得的肌肉力量测量值进行比较。 我们还计划观察肌肉功能能力、生活质量问卷和肺功能测量。该研究要求在两年的时间内，在0、3、6、12、18和24个月时到门诊就诊6次，每次半天。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对疾病的影响。 本研究基于以下假设：在评估SMA成人患者疾病的严重程度和进展方面，运动单位数估计（MUNE）的电生理技术可能上级于复合肌肉动作电位（CMAP）。 有四个具体目标： 1. 确定SMA成人患者的MUNE值和CMAP振幅与正常年龄和性别匹配对照组中发现的这些参数值的比较; 2. 评估2型和3型SMA成人患者的MUNE和CMAP值是否存在差异; 3. 探讨MUNE和CMAP值如何与这些患者的疾病严重程度的其他指标相关，包括肌肉力量[通过手动和计算机化（固定和手持式测力计）测试确定]，功能评定量表，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，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.