What is neuromuscular disease? Skeletal muscle is the main organ of movement, and the ability to run, jump, walk, hold objects, etc. requires the normal contraction of skeletal muscle. The normal function of skeletal muscle is based on the structural and functional integrity of the motor conduction pathway. The motor conduction pathway consists of motor neurons and their emanations in the brain, motor neurons in the spinal cord, peripheral nerves, nerve-muscle junctions, and skeletal muscle. Lesions in any part of this pathway can cause motor dysfunction. Diseases involving peripheral nerves, nerve-muscle junctions and skeletal muscle are collectively referred to as neuromuscular diseases. There are many different types of neuromuscular diseases, including peripheral neuropathy, myasthenia gravis, polymyositis, periodic paralysis, myotonic dystrophy, metabolic myopathy, and neuromuscular damage caused by various drugs, poisoning, infections, and endocrine disorders. What are the symptoms of neuromuscular disease? Patients with neuromuscular disease often have muscle weakness and atrophy of the limbs, but also numbness, easy fatigue, muscle pain and other symptoms; some patients also have weakness of the eye and throat muscles, visual double vision, eye movement disorders, pronunciation and swallowing difficulties, etc. In severe cases, they are unable to swallow, and may even die due to respiratory muscle weakness. Nerve and muscle diseases are mostly slow onset and do not attract as much attention as cerebrovascular diseases. The lack of clinical knowledge of neuromuscular diseases among many non-specialists and the lack of appropriate tests in general hospitals make the diagnosis of this large group of diseases very difficult. We often see patients who are unable to be diagnosed even though they have been referred to several hospitals, and by the time the diagnosis is clear, the best time for treatment has been missed and serious complications have occurred. How is neuromuscular disease diagnosed? Diagnostic procedure of neuromuscular disease: neurologists take detailed medical history and conduct careful neurological examination, make localized and qualitative diagnosis according to clinical symptoms and signs, and then select auxiliary examination items in a targeted manner. If necessary, muscle biopsy should be done for pathological examination to further clarify the cause. What is the use of muscle biopsy? Muscle biopsy diagnostic technique can provide a reliable diagnostic basis for some muscle and peripheral nerve diseases, especially in some complex, atypical and difficult neuromuscular disease diagnosis plays a key role, muscle biopsy is convenient to obtain material, low cost, no hospitalization, low risk, is a very valuable clinical neurology technology. If your doctor recommends muscle biopsy, please make sure that the muscle specimen removed is to be frozen sectioned and enzyme histochemically stained, because conventional paraffin sectioning and HE staining have very limited diagnostic value for muscle lesions and have been eliminated for decades abroad, but many hospitals in China can only do paraffin sectioning and HE staining. Can neuromuscular diseases be cured? Most peripheral neuropathies, myasthenia gravis, polymyositis, periodic paralysis and toxicity, and metabolic muscle disease can be cured if diagnosed and treated correctly; and some diseases for which there is no specific treatment, such as hereditary peripheral neuropathies and progressive muscular dystrophy, can avoid the economic loss caused by switching from one doctor to another if diagnosed; genetic counseling and prenatal diagnosis can be used to If the disease is diagnosed, it can avoid the financial loss caused by the change of medical treatment; prevent the birth of another child with the disease in the family through genetic counseling and prenatal diagnosis; and give priority to the treatment once the new effective treatment is available.