The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases. The definition of rare diseases in China is defined as: diseases with a prevalence of less than 1 in 500 000 or newborns with an incidence of less than 1/10 000 are rare diseases. Due to the low incidence of rare diseases and the accumulation of multiple organs and systems in most diseases, clinicians lack comprehensive and systematic understanding. Patients often face great difficulties in seeking medical treatment and diagnosis. Currently, there is a lack of systematic and rare diseases in China. Management, diagnosis and treatment of rare diseases, making the diagnosis of rare diseases, prevention interventions seriously lagging behind, obviously behind the management of developed countries and regions; rare diseases are mostly related to genetic variation, with the clinical application of genetic diagnosis technology, more and more Many genetically related rare diseases have been diagnosed at an early stage; at present, precision medicine is rapidly developing, and more and more rare disease clinical trials have entered the country, bringing prospects for the treatment of rare diseases. For this reason, the management of rare diseases is particularly important. At present, some rare diseases of the nervous system can be treated early; for example, immune-related rare diseases have common normative immunotherapy and functional disability prevention, and the characteristics of single disease management of each disease; hereditary degenerative rare diseases such as progressive 2-3 multi-center clinical trials of spinal muscular atrophy and progressive muscular dystrophy have been entered into our hospital (in our hospital), X-linked pre-diagnosis of adrenal malnutrition genetic diseases, and appropriate treatment time is selected. Stem cell transplantation is in research and planning; the long-term management and comprehensive treatment of nodular sclerosis and Dravet syndrome are important for the prevention and treatment of diseases; therefore, the early diagnosis, pathogenesis and standardized treatment of rare diseases of the nervous system are urgent. And necessity.