1.What are the neuromuscular diseases included?
There are many types of neuromuscular diseases, including peripheral neuropathy; muscle junction diseases, such as myasthenia gravis; skeletal muscle diseases such as polymyositis, periodic paralysis, myotonic dystrophy, metabolic myopathy, congenital diseases, etc.
2.What are the causes of neuromuscular diseases?
Neuromuscular diseases can be divided into two main categories, hereditary and acquired neuromuscular diseases. Hereditary such as hereditary peripheral neuropathy, myotonic dystrophy, congenital myopathy, etc. Acquired include inflammatory, vascular, traumatic, tumorigenic, metabolic and nutritional disorders, infections, poisoning by drugs and chemicals, endocrine disorders, and other etiologies. Systemic systemic medical diseases can also accompany the appearance of neuromuscular disease damage.
3.What does myopathy include?
Myopathy mainly includes myotonic dystrophy, myositis, myopathy, etc.
4.How are peripheral neuropathies classified?
There are more classification criteria for peripheral nerve diseases. Generally, they can be divided into hereditary and acquired. Acquired peripheral neuropathies can be divided into nutritional deficiency and metabolic, toxic, infectious, immune-related inflammation, ischemic, mechanical trauma, etc. according to the etiology; according to the course of the disease, they can be divided into acute, subacute, chronic, recurrent and progressive neuropathies, etc.; according to the distribution of the involved nerves, they can be divided into mononeuropathies, multiple mononeuropathies, multiple neuropathies, etc.; according to the The symptoms are divided into sensory, motor, mixed, autonomic, etc.; according to the anatomical part of the lesion, it can be divided into radiculopathy, plexopathy and neuropathy.
5.What are the common symptoms of peripheral neuropathy?
Common symptoms and signs of peripheral nerve disease include: sensory disorders mainly manifest as sensory loss, abnormal sensation, numbness, pain, sensory ataxia; motor disorders include motor nerve irritation and paralysis symptoms. Stimulation symptoms are mainly manifested as muscle bundle tremor, muscle fiber tremors, painful spasms, etc., while muscle strength reduction or loss and muscle atrophy are motor nerve paralysis symptoms. Patients with peripheral nerve disease are often accompanied by reduced or absent tendon reflexes. Autonomic nerve damage is often manifested as an absence of sweating, vertical hair disorder and upright hypotension, and in severe cases, tearlessness, salivationlessness, impotence and vesicorectal dysfunction may occur.
6.Common symptoms of muscle disease?
Common symptoms of muscle disease include: muscle force weakness, muscle disease often appears in the proximal muscle weakness, different from peripheral neuropathy muscle force weakness often appears in the distal, muscle atrophy or weakness, standing posture or gait, etc.; muscle easy fatigue phenomenon, muscle force weakness after repeated exercise, light symptoms after rest, seen in neuromuscular junction lesions, metabolic muscle disease, pathological muscle fatigue caused by muscle metabolic disorders; muscle Pain, myalgia is a characteristic of inflammatory myopathy and metabolic myopathy, and the degree, occurrence and triggering factors of myalgia are different depending on the disease; muscle atrophy, which is an objective indication of muscle lesions. Care should be taken to avoid muscle atrophy being masked by excessive fat and failing to be detected; muscle hypertrophy can be caused by excessive muscle movement, exercise and fatty connective tissue hyperplasia; involuntary muscle movements, such as muscle fibrillation, muscle fasciculation (meat jump), muscle fiber tremors facial twitches and lateral muscle twitches, muscle tonicity, painful muscle spasms and painful muscle contractures, muscle rigidity, muscle contractures, hand and foot twitches; hypotonia; other manifestations Such as skin, bone and joint, eye, endocrine and other abnormalities.
7, muscle disease often need to do what tests?
The tests that need to be done when muscle disease is suspected: muscle enzyme profile tests, including serum creatine myokinase (CK), lactate dehydrogenase. normal CK does not exclude neuromuscular disease. Some neuromuscular diseases have normal or only mildly elevated CK levels. Altered permeability of the muscle fiber membrane or disruption of the membrane releases large amounts of creatine kinase from the muscle fiber into the blood. Therefore elevation of serum creatine kinase is often seen in myogenic damage. In general, CK is normal or mildly elevated in neurogenic skeletal muscle injury. In contrast, CK is often not elevated or slightly elevated in patients with congenital myopathy. Laboratory tests also include examination of immune markers, such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), antinuclear antibody profile (ANA profile), antineutrophil cytoplasmic antibody profile (ANCA profile), and anti-extractable nuclear antigen antibody profile (ENA profile), to rule out muscle disease due to connective tissue disease. Screening for tumor markers to rule out paraneoplastic syndromes; thyroid function tests to rule out muscle disease due to thyroid dysfunction, etc. Electromyography, which helps to identify neurogenic and myogenic injuries, is a powerful tool for diagnosing neuromuscular diseases. When the diagnosis is unclear, muscle biopsy pathology is often required to clarify the diagnosis, pathology is an indispensable means of diagnosis and differential diagnosis.
8.What tests are often required for peripheral neuropathy?
Laboratory tests are required when peripheral nerve is suspected: laboratory tests such as blood glucose to rule out diabetes or abnormal glucose tolerance, except for the most common diabetic peripheral neuropathy; tests such as folic acid and vitamin B12 to rule out nutritional deficiencies; tests for immune indicators such as ESR, CRP, ANA profile, ANCA profile, ENA profile, etc. to rule out peripheral neuropathy due to connective tissue disease. Screening of tumor markers to exclude peripheral neuropathy due to paraneoplastic syndrome; examination of thyroid function to exclude peripheral neuropathy due to thyroid dysfunction. Neuroelectrical neurological examinations such as electromyography and nerve conduction velocity to clarify the presence or absence of peripheral nerve damage and the localization of peripheral nerve injury. Sometimes lumbar puncture of cerebrospinal fluid is required to rule out inflammatory peripheral neuropathy. When the diagnosis is unclear, pathological examination such as nerve and skin biopsy is often needed to clarify the diagnosis.
9.How to diagnose neuromuscular disease?
The diagnosis of neuromuscular disease cannot be made without detailed medical history, family history, physical examination and auxiliary examination. The diagnosis procedure of neuromuscular disease: the neurologist takes detailed medical history and conducts careful neurological examination, makes localized and qualitative diagnosis according to the clinical symptoms and signs, and then selects the auxiliary examination items in a targeted manner. Commonly used auxiliary examination items include laboratory tests, electromyography, etc. If necessary, pathological examinations such as nerve, muscle and skin biopsies should be done to further clarify the cause. After the initial diagnosis of the disease, genetic examination can be performed if necessary.
10.Can neuromuscular diseases be treated?
Most peripheral neuropathies, myasthenia gravis, polymyositis, periodic paralysis and poisoning, metabolic muscular diseases, etc. can be cured if diagnosed and treated correctly in time; however, some neuromuscular diseases such as hereditary peripheral neuropathy and progressive muscular dystrophy do not have special treatment methods yet. However, if the diagnosis is confirmed, the economic loss caused by the transfer of medical treatment can be avoided; genetic counseling and prenatal diagnosis can be used to prevent the birth of another child with the disease in the family; once a new effective treatment method is available, the treatment opportunity will be given priority.