Department of Encephalopathy, The Fifth Affiliated Medical College of Guangzhou University of Chinese Medicine, Guangzhou, China; Department of Neurology, Baiyun Branch, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Department of Encephalopathy, The Fifth Affiliated Medical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Ann Palliat Med. 2021 Dec;10(12):12900-12905. doi: 10.21037/apm-21-3254.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving both upper and lower motor neurons. The total prevalence of ALS is [2-9]/100,000, with an annual incidence rate of 3/100,000. The disease progresses rapidly and clinically is considered to be progressive degeneration of the upper and lower motor neurons. Although this is a kind of rare disease, the mortality is high once it occurs, which has a great impact on patients and their families. Currently there is no treatment for either the sporadic or familial form. Therefore, it is of great significance to explore the diagnosis and treatment of familial amyotrophic lateral sclerosis (FALS). We report the diagnosis and treatment of a patient with familial ALS caused by mutation of the Cu/Zn superoxide dismutase (SOD1) gene c.425g > C (p.g142a), which is considered rare. We got to know that genetic testing of the patient and his immediate family members assisted in diagnosis and palliative care. Edaravone and Riluzole were used in this case according to the guideline in this case. The progress of the disease was alleviated and the survival experience of patients improved because of this medication administration. The aim of this case report is to provide a reference for the diagnosis and treatment strategy in FALS. What's more, further exploration of treatment using integrated traditional Chinese and Western medicine to delay the disease process has great significance for improved patient outcomes.
肌萎缩侧索硬化症（ALS）是一种涉及上下运动神经元的神经退行性疾病。ALS 的总患病率为[2-9]/100,000，年发病率为 3/100,000。疾病进展迅速，临床上被认为是上下运动神经元的进行性退化。尽管这是一种罕见疾病，但一旦发生，死亡率很高，对患者及其家属影响很大。目前，无论是散发性还是家族性形式，都没有治疗方法。因此，探索家族性肌萎缩侧索硬化症（FALS）的诊断和治疗具有重要意义。我们报告了一例由铜/锌超氧化物歧化酶（SOD1）基因 c.425g>C（p.g142a）突变引起的家族性 ALS 患者的诊断和治疗，这被认为是罕见的。我们了解到对患者及其直系亲属进行基因检测有助于诊断和姑息治疗。根据该病例的指南，在该病例中使用了依达拉奉和利鲁唑。由于这种药物的使用，疾病的进展得到了缓解，患者的生存经验得到了改善。本病例报告的目的是为 FALS 的诊断和治疗策略提供参考。此外，进一步探索使用中西医结合治疗来延缓疾病进程，对于改善患者预后具有重要意义。
