Muscle biopsy: When physical examination, electromyography/nerve conduction testing, and blood biochemistry results suggest muscle lesions, a significant proportion of patients require a muscle biopsy to further define the nature of the lesion. Muscle lesions are a large group of diseases, divided into several categories such as myotonic dystrophy, inflammatory myopathy, metabolic myopathy, endocrine myopathy, ion channel disease, congenital myopathy, myogenic fibromyopathy, etc. Each major category is divided into several specific disease types, which have similar clinical manifestations, but different etiology, pathogenesis, prevention and treatment methods, and genetic patterns. Muscle biopsy is a powerful tool to help us identify specific types of muscle lesions. The muscle biopsy is an invasive test, usually performed under local anesthesia, mostly on the muscles of the upper arm or thigh, with an incision length of 1,5-100px (the thicker the fat layer, the longer the incision required), and the muscle tissue removed is about the size of a soybean. I have done more than 200 cases of muscle biopsy, there has been no incision infection, bleeding, poor healing, so muscle biopsy is a relatively safe examination, remind patients to note a few points: 1, the diagnostic value of muscle biopsy depends on the level of pathological staining and pathological diagnosis, if you do muscle biopsy hospital can only do paraffin embedding, conventional staining, it is recommended not to do, because a lot of diagnostic information on muscle specimens I have seen a lot of patients suffer a knife in vain, wasting time and money, still can not be diagnosed, only to review the muscle biopsy to confirm the diagnosis, really feel sorry for them. 2, muscle biopsy site to be determined according to the clinical performance, sometimes need to do muscle magnetic resonance examination to help locate The muscle biopsy can not be done within 1 month of the needle electromyography. 3, muscle biopsy can make creatine kinase (CK) elevated, CK test should be done before the muscle biopsy. Peripheral nerve biopsy: For most peripheral neuropathies, nerve biopsy is not necessary for diagnosis. Peripheral nerve biopsy is mainly used in clinical consideration of vasculitic peripheral neuropathy, amyloid peripheral neuropathy and some peripheral neuropathies that cannot be diagnosed by other tests. The biopsy site is usually the gastrocnemius nerve, which can leave pain, numbness, and sensory loss in the lateral dorsal skin of the foot after surgery. As with muscle biopsy, the diagnostic value of nerve biopsy depends on the level of pathological staining and pathological diagnosis. HE staining, toluidine blue staining and electron microscopy are usually required, and depending on the results of routine staining, special staining is sometimes added to clarify the diagnosis. Genetic examination: With the progress of molecular biology examination methods, more and more diseases can be genetically diagnosed, and a considerable part of neuromuscular lesions are caused by genetic mutations. Genetic diagnosis can not only clarify the type and location of genetic mutations in hereditary patients, realize the true diagnosis of the cause of the disease, and lay the foundation for future gene therapy, but also examine the family members of patients to find out the mutations in the family. It is also possible to examine the family members of patients to identify the carriers of the mutation in the family, and if necessary, to do prenatal diagnosis to prevent the birth of similar patients in the family. Take the most common pseudohypertrophic large muscular dystrophy (DMD/BMD) as an example, in Europe, America, Japan and other countries, after a patient is diagnosed, through genetic counseling and prenatal diagnosis, no more patients will be born in his family, and the number of patients in the whole population is getting smaller and smaller. The most frightening thing about genetic diseases is that new patients will appear in the same family, just like a nightmare that is difficult to get rid of. In the genetic examination should pay attention to: 1, find a doctor with knowledge of molecular biology, carefully for your physical examination, and carefully look at your other auxiliary test results for you to tailor the genetic examination program, genetic examination items are numerous, if you can not find the right direction of examination based on clinical information, the large network of examination is not only time-consuming, costly, sometimes the direction is simply wrong, I have seen more than one case; 2, the interpretation of the genetic examination results is very important. It is very important to interpret the results of genetic tests, as normal human genes can “go wrong” in the process of replication, but they do not cause disease, so it is very important to determine whether the detected mutation is a normal polymorphism or a disease-causing mutation, and sometimes it is necessary to test the genes of the patient’s parents, siblings, and conduct a rigorous and careful analysis before drawing conclusions. God helps those who help themselves, and I sincerely hope that this special group of patients with neuromuscular diseases will act in their own interest, learn the relevant knowledge, enhance their understanding of their disease, not be misled by all kinds of pseudoscientific information, find a doctor who can really help you, and reduce the consumption of money and energy.