de Carvalho Mamede, Swash Michael
Faculdade de Medicina- Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Universidade de Lisboa, Lisbon, Portugal.
Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Lisbon, Portugal.
Clin Neurophysiol Pract. 2023 Dec 19;9:27-38. doi: 10.1016/j.cnp.2023.12.003. eCollection 2024.
Accurate and rapid diagnosis of amyotrophic lateral sclerosis (ALS) is essential in order to provide accurate information for patient and family, to avoid time-consuming investigations and to permit an appropriate management plan. ALS is variable regarding presentation, disease progression, genetic profile and patient reaction to the diagnosis. It is obviously important to exclude treatable conditions but, in most patients, for experienced neurologists the diagnosis is clear-cut, depending on the presence of progressive upper and lower motor neuron signs. Patients with signs of restricted lower motor neuron (LMN) or upper motor neuron (UMN) dysfunction may present diagnostic difficulty, but electromyography (EMG) is often a determinant diagnostic test since it may exclude other disorders. Transcranial magnetic stimulation may aid detection of UMN dysfunction, and brain and spinal cord MRI, ultrasound and blood neurofilament measurements, have begun to have clinical impact, although none are themselves diagnostic tests. Several sets of diagnostic criteria have been proposed in the past; all rely on clinical LMN and UMN signs in different anatomic territories, EMG changes, exclusion of other disorders, and disease progression, in particular evidence of spreading to other anatomic territories. Fasciculations are a characteristic clinical feature and increased importance is now attached to fasciculation potentials detected by EMG, when associated with classical signs of denervation and reinnervation. The Gold Coast diagnostic criteria rely on the presence of UMN and LMN signs in one (or more) anatomic territory, or LMN signs in two (or more) anatomic territories, recognizing the fundamental clinical requirements of disease progression and exclusion of other diseases. Recent studies confirm a high sensitivity without loss of specificity using these Gold Coast criteria. In considering the diagnosis of ALS a critical question for future understanding is whether ALS should be considered a syndrome or a specific clinico-pathologic entity; this can only be addressed in the light of more complete knowledge.
准确快速地诊断肌萎缩侧索硬化症（ALS）至关重要，以便为患者及其家属提供准确信息，避免耗时的检查，并制定合适的管理计划。ALS在临床表现、疾病进展、基因谱以及患者对诊断的反应方面存在差异。排除可治疗的疾病显然很重要，但对于大多数患者而言，对于经验丰富的神经科医生来说，根据是否存在进行性上、下运动神经元体征，诊断是明确的。具有局限性下运动神经元（LMN）或上运动神经元（UMN）功能障碍体征的患者可能存在诊断困难，但肌电图（EMG）通常是决定性的诊断测试，因为它可以排除其他疾病。经颅磁刺激可能有助于检测UMN功能障碍，脑和脊髓MRI、超声以及血液神经丝测量已开始产生临床影响，尽管它们本身都不是诊断性测试。过去已经提出了几套诊断标准；所有这些标准都依赖于不同解剖区域的临床LMN和UMN体征、EMG变化、排除其他疾病以及疾病进展，特别是扩散到其他解剖区域的证据。肌束震颤是一个特征性的临床特征，当与去神经和再支配的经典体征相关时，EMG检测到的肌束震颤电位现在越来越受到重视。黄金海岸诊断标准依赖于在一个（或多个）解剖区域存在UMN和LMN体征，或在两个（或更多）解剖区域存在LMN体征，同时认识到疾病进展和排除其他疾病的基本临床要求。最近的研究证实，使用这些黄金海岸标准具有高敏感性且不失特异性。在考虑ALS的诊断时，未来理解的一个关键问题是ALS应被视为一种综合征还是一种特定的临床病理实体；这只能根据更全面的知识来解决。
