The broad term “motor neuron disease” (MND) includes “amyotrophic lateral sclerosis” (ALS), “progressive myasthenia gravis” (PMA), “progressive medullary palsy” (PBP), and “primary lateral sclerosis” (PLS). “progressive myelopathy” (PBP), and “primary lateral sclerosis” (PLS). However, since ALS accounts for the majority of cases, and the other three types usually end up as ALS, MND in its narrow sense refers specifically to ALS. Overview The term “acromegaly” is a common term for patients with ALS, and reflects the basic characteristics of the disease: the patient is always conscious, but the muscles of the body, including the muscles of the throat and respiratory muscles, are progressively atrophied and absent. The progressive atrophy and weakness of the muscles of the body, including the muscles of the throat and respiratory muscles, leads to gradual loss of self-care and bed rest, and finally leads to respiratory failure and death. Foreign scholars report that the average survival period of ALS patients is 3-5 years, while a large sample of Chinese patients has shown that the average survival period of Chinese ALS patients is 5-8 years. Although ALS was reported and named in the 19th century, its understanding is still incomplete. ALS is generally considered a rare disease with an incidence of 1 to 3/100,000, and it is estimated that there are about 200,000 to 300,000 patients in China. 5% to 10% of ALS patients have a family history, called familial ALS (fALS), and another 90% to 95% have sporadic ALS (sALS). More than 10 genes related to the development of ALS have been identified, the most common of which is SOD1, followed by FUS and TARDBP, and the rest include ALS2, SETX, VAPB, ANG, OPTN, ATXIN2, etc. The first 3 genes are associated with most ALS, while a large number of the remaining genes are associated with only a few ALS. For these 3 most common genetic abnormalities, all of them are currently reported in China, with SOD1 being the most common, unlike in Western patients. Because of the low epistasis of some genes, a significant proportion of sALS patients may belong to fALS. all fALS-related genes can be found in sALS patients, confirming this hypothesis. Pathogenesis Despite the existence of multiple theories, the pathogenesis of ALS remains unclear. TDP-43 protein is found in the cytoplasm of neurons in many ALS patients, similar to the pathology seen in patients with frontotemporal dementia (FTD), and the same pathology is seen in several other neurodegenerative diseases, which are currently preferred to be collectively referred to as TDP-43 protein diseases. However, TDP-43 is not present in all ALS patients, not in patients with classical SOD1 gene mutations, therefore, the current tendency is to consider ALS as a group of syndromes with different etiology, pathogenesis and pathology, but similar clinical manifestations. Diagnostic criteria ALS has international diagnostic criteria, and in 2001, the Neurology Branch of the Chinese Medical Association proposed our ALS diagnostic criteria with reference to the standards of the World Federation of Neurology. The diagnosis of ALS should be strictly in accordance with its criteria and the level of diagnosis should be clearly defined. It is important to note that although neurophysiological examination is very important, the diagnosis of ALS cannot be based on only one test, but must be based on a combination of symptoms, signs, ancillary tests and exclusion of other diseases similar to it. Treatment No treatment has been found to cure or reverse ALS. Riluzole, an excitatory amino acid antagonist, is the only drug that has been clinically proven to slow the progression of ALS. Recent studies have shown that it can extend patient survival by 4 to 20 months, and the earlier it is used, the greater the benefit. Two other proven, internationally recognized treatments to slow disease progression are timely gastrostomy and the use of non-invasive ventilators, which are highly consumptive diseases that can progress rapidly when there is a lack of nutrition or reduced oxygen supply. The purpose of gastrostomy and non-invasive ventilators is to protect the patient’s nutrition and oxygen supply. Various drugs are being developed by major pharmaceutical companies to treat ALS by possible mechanisms. Some of these drugs, such as NP001, are promising, and it is believed that a specific treatment for ALS will be found in the near future.