amyotrophic lateral sclerosis
Introduction
Introduction to amyotrophic lateral sclerosis The official name of amyotrophic lateral sclerosis medicine is muscular atrophic lateral sclerosis (ALS), also known as gradual freezing human disease, which is a motor neuron disease. May be related to genetic factors, viral infections, immune responses, environmental factors and so on. The clinical manifestations vary, and the course of the disease fluctuates. Generally, the lower limbs feel the disorder and then the upper limbs, the trunk and other body muscles gradually shrink, resulting in more and more degeneration of motor function. Finally, the system develops weakness, long-term bed rest, and unable to breathe spontaneously. Treatment of amyotrophic lateral sclerosis: no special effective therapy, mainly symptomatic treatment, need permanent treatment after the disease, can be treated with adrenal cortical hormone, massage, physical therapy, passive exercise and stent application to prevent limb atrophy. After loss of respiratory function, a ventilator must be used to assist breathing. The current incidence rate in the world is about one in every 100,000 people per year. Patients generally have a survival time of 3 to 5 years after diagnosis, and only 20% of patients can survive for more than 5 years. The annual cost of patients can be as high as 100,000 yuan, which is unbearable for ordinary families. basic knowledge Sickness ratio: 0.0001% Susceptible people: middle-aged and old people over 40 years old Mode of infection: non-infectious Complications: motor neuron disease respiratory failure
Cause
Causes of amyotrophic lateral sclerosis
Genetic factors (20%)
Most patients have hereditary, called familial amyotrophic lateral sclerosis (FALS), adult type is autosomal dominant inheritance, young type is autosomal dominant or recessive, clinical and disseminated Cases are difficult to distinguish. At present, genetic studies have determined that autosomal dominant genotypes are associated with copper/zinc superoxide dismutase (SODL) gene mutations, and the mutated gene is located on chromosome 21 long arm (21q22.1-22.2), autosomal recessive genotype. The mutant gene is located at 2q33-q35, but these mutations account for only 20% of FALS, and other ALS genes have yet to be determined.
Poisoning factor (20%)
Excitatory toxic neurotransmitters such as glutamate may be involved in neuronal death in the pathogenesis of ALS, possibly due to reduced glutamate uptake by astrocyte glutamate transporters. Studies have found that loss of transport function in some patients is due to abnormal connections in the transcriptional copies of transporter mRNA in the motor cortex. For this excitotoxicity, the SODl enzyme is one of the cell defense systems that detoxify free radical superoxide anions. Familial cases may cause glutamate excitotoxicity and ALS due to SOD1 mutations. In addition, phytotoxins such as cassava poisoning, lack or accumulation of trace elements, excessive intake of aluminum, manganese, copper, silicon and other elements, as well as the reduction of neurotrophic factors may be related to pathogenic effects.
Immunity factor (20%)
Although MND patients have detected a variety of antibodies and immune complexes, such as anti-thyroid antibody, GM1 antibody and L-type calcium channel protein antibody, there is no evidence that these antibodies can selectively target motor neurons. . It is currently believed that MND does not belong to the nervous system autoimmune disease.
Virus infection (20%)
Since both MND and acute polio invade the anterior horn motor neurons of the spinal cord, and a small number of polio patients subsequently develop MND, it is speculated that MND is associated with chronic infection with poliovirus or poliovirus. However, no virus or related antigens and antibodies were found in CSF, serum and nervous tissues of patients with ALS.
Prevention
Amyotrophic lateral sclerosis prevention
Amyotrophic lateral sclerosis has congenital genetic factors, early detection, early diagnosis, early treatment, prevention of infection is the key to the prevention and treatment of this disease.
Complication
Amyotrophic lateral sclerosis complications Complications, motor neuron disease, respiratory failure
There may be signs of pyramidal tract disease and muscle atrophy, muscle tremors and other motoneurons coexisting, quadriplegia reflexes and pathological reflexes, sometimes upper limb paralysis reflexes or disappear, and lower extremity reflexes, paralysis, sphincter and sexual function Obstacles are not common, and there are no objective sensory disturbances. Finally, respiratory failure is complicated.
Symptom
Amyotrophic lateral sclerosis symptoms Common symptoms Muscle atrophy Atrophy Difficulty swallowing Consonant sensory disorder Tongue muscle atrophy Lower extremity Central snoring Difficulty arm Muscle atrophy Muscle atrophy Upper extremity Peripheral sputum
First, medical history and symptoms:
1. There are many middle-aged and old people over 40 years old, and the ratio of male to female is about 3:2. It starts slowly and develops progressively.
2. Peripheral paralysis of the upper extremities, central paralysis of the lower extremities, and the symptoms of mixed damage of the upper and lower motor neurons are characterized by coexistence.
3. Ball paralysis symptoms, the latter group of cranial nerve damage, there are unclear articulation, difficulty swallowing, drinking water cough and so on.
4. There are no sensory disturbances.
5. Generally starting from the lower limb sensory disturbance, followed by the upper limb trunk, and finally respiratory muscle failure, the cause of death is also respiratory failure, but the patient's consciousness is awake.
Second, physical examination found:
Cranial nerve: In addition to ball paralysis, there may be atrophy of the lingual muscles, fibrillation of the tongue muscles, strong crying and strong laughter, emotional instability, etc. The upper extremities are more common in the distal muscle-deficient, with large and small muscles and interosseous muscles. At the same time, accompanied by fasciculation, normal feeling, bilateral lower extremities showed spastic paralysis, increased muscle tone, hyperreflexia, bilateral pathological reflexes, respiratory muscle involvement, breathing difficulties.
Examine
Examination of amyotrophic lateral sclerosis
1. Lumbar puncture cerebrospinal fluid examination: pressure and composition are normal.
2. Serum phosphocreatine kinase can be increased, and acetylcholinesterase is increased.
3. EMG: visible fibrillation potential, huge potential, motor nerve conduction velocity is normal.
4. MRI: visible spinal cord atrophy and degeneration in the corresponding parts of clinically damaged muscles.
Diagnosis
Diagnosis and differentiation of amyotrophic lateral sclerosis
Differential diagnosis
Sometimes it needs to be differentiated from cervical spondylosis, high neck tumor, spinal arachnoiditis.
China usually mixes amyotrophic lateral sclerosis and motor neuron disease. It is caused by the injury of the upper motor neurons and the lower motor neurons, resulting in the gradual weakness and atrophy of the muscles including the bulb (the so-called bulb, which refers to the part of the muscle that the medulla obscures), the limbs, the trunk, and the chest and abdomen.
