Amyotrophic Lateral Sclerosis (ALS), also known as progressive frostbite, is a chronic and progressive neurological disease, which mainly affectsUpper motor neuronandInferior motor neuronAnd the muscles of the trunk, limbs and head and face it controls.The pathogenesis of this disease is still unclear, which may be related to genetic factors, lifestyle, toxic contact, excessive physical labor, low body mass index, history of head trauma, metabolic diseases, autoimmune dysfunction and other factors.The peak of incidence usually occurs over 45 years old, and the incidence rate of male is higher than that of female.
The main clinical manifestations of ALS are progressive skeletal muscle weaknessAmyotrophy、Fascicular fibrillationandBulbar paralysis, will gradually deteriorate with the development of the disease course, and even affectRespiratory muscle, causing difficulty in breathing.Patients may also experience a sense of numbnessLimb paralysis, weight loss, arrhythmia and other symptoms, while patients are likely to face depression, anxiety and other emotional problems.
Amyotrophic lateral sclerosis is still incurable, but a series of treatment methods can improve the quality of life of patients and delay the process of disease as far as possible.These methods include nutrition management, respiratory support, psychotherapy, amyotrophic lateral sclerosis, andmedication。In terms of drug treatment,RiluzoleandEdaravoneIt is the mainstream drug for the treatment of amyotrophic lateral sclerosis.In addition, rehabilitation physiotherapy training is also very effective for improving the quality of life.
On June 7, 2024, a new discovery on progressive frostbite was first published, which indicates that the onset of progressive frostbite is related to changes in muscles.[11]
TCM disease name
Amyotrophic lateral sclerosis
Foreign name
Amyotrophic Lateral Sclerosis
Alias
Progressive frostbite
Visiting department
Internal Medicine-Neurology
Multiple population
People between 30 and 60 years old, especially men over 45 years old
Common causes
Genetic factorslife styleToxic exposure, excessive physical labor, history of head injuryMetabolic diseaseetc.
common symptom
Progressive aggravating muscle weakness, muscle atrophy, muscle bundle tremor, and tongue muscle are often first affected, which are manifested as tongue muscle atrophy, muscle bundle tremor, and tongue extension weakness
A few cases of amyotrophic lateral sclerosis areinheritanceHowever, the etiology of most cases is still unclear.At present, known risk factors that may be related to the occurrence of the disease include: genetic factors, lifestyle (such as smoking), exposure to toxic substances (such asOrganic solvent、Insecticide、Heavy metal elementsExposure), occupation (such as excessive manual labor), low body mass index, history of head injuryMetabolic disease, abnormal autoimmune functionviral infectionAnd neuroinflammatory reaction.
Amyotrophic lateral sclerosis usually starts with clumsiness and weakness of one or both fingers, followed by small hand muscles (such as large and smallThenar muscle, interosseous muscles, etc.) atrophy. When the atrophy is serious, the patient's hands can be in the shape of eagle claws.
As the disease progresses, muscle weakness and atrophy can affect the forearm, upper arm and shoulder girdle muscles, then the trunk and neck, and finally the facial muscles and throat muscles.
There are also a few patients with muscle atrophy and weakness from the lower limbs or trunk muscles.
Fascicular fibrillation
The muscles of the affected part of the patient often have obvious muscle bundle fibrillation, which is commonly known as "meat jumping" and "muscle beating".
Bulbar paralysis
It usually occurs in the late stage of the disease, and a few cases may be the first symptom.
Tongue muscles are often involved first, manifested as atrophy, fasciculation and weakness of tongue extension.Subsequently, atrophy and weakness of the palate, pharynx, larynx and masticatory muscles occurred, resulting in unclear speech articulation, dysphagia, choking cough after drinking water and weak mastication.
Pyramidal tract sign
When the upper limb muscles of the patient are involved, muscle atrophy may occur, muscle tension is generally not high, but tendon reflex is hyperfunction, Hoffmann sign is positive;When muscles of both lower limbs are involved, muscle atrophy and muscle bundle fibrillation are usually light, muscle tension is high, tendon reflex is hyperfunction, and Babinski sign is positive.
In addition, patients may have emotional problems such as depression and anxiety, which may lead to insomniaAnorexiaEtc.
Medical treatment
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In case of muscle weakness, atrophy or unclear speech and other abnormalities, timely treatment shall be carried out.The doctor may ask the following questions during the visit:
Are there any other relatives with similar diseases at home;
How long has the muscle been weak? Do you feel any signs of muscle atrophy;
Do you feel the muscle tension is particularly high, that is, the limbs are very stiff;
Do you feel dyspnea, dysphagia, and speak more clearly than before.
The doctor will conduct a detailed physical examination of the whole body, especially the examination related to the nervous system.
Signs of muscle involvement in both upper limbs: muscle atrophy may occur, muscle tension is generally not high, but tendon reflex is hyperactive and positive;
Physical signs of muscle involvement in both lower limbs: muscle atrophy and muscle bundle fibrillation are often light, muscle tension is high, tendon reflex is hyperintense, positive.
laboratory examination
Blood test
routine blood testGenerally normal;Serum creatine kinase activity may be normal or slightly increased.
Lumbar puncture was performed and cerebrospinal fluid was taken for examination. Generally, it is normal or the protein is slightly increased, and the immunoglobulin may be increased.
It is important to diagnose amyotrophic lateral sclerosis.electromyogramProgressive denervation and chronic reinnervation can be found in the muscles innervated by different nerve segments of the medulla oblongata, neck, thorax and lumbosacral region.
Motor evoked potential
It is helpful to find the pathological changes of upper motor neurons under the clinical conditions of amyotrophic lateral sclerosis, but the sensitivity is not high.
Muscle biopsy
The pathological changes of neurogenic muscular atrophy can be seen, and it can be used to exclude the damage of pyramidal tract or lower motor neuron caused by other diseases.
cervical spondylopathyThere may be hand muscle atrophy, compression of the spinal cord may lead to hyperreflexia of lower limb tendon, positive bilateral pathological reflex and other symptoms of upper and lower motor neuron lesions.However, the muscular atrophy of cervical spondylosis is often confined to the upper limbs, and the atrophy of hand muscles is more common.Usually, it can be identified by electromyography.
A rare demyelinating peripheral nerve disease, its clinical manifestations are progressive and asymmetric limb weakness, mainly distal involvement.The electrophysiological feature is that there is persistent and multifocal conduction block on the motor nerve, while the sensory nerve is not or only slightly involved.Most patients have elevated serum anti GM1 antibody titer, and intravenous immunoglobulin is effective and can be differentiated from it.
This disease is a benign self limited motor neuron disease. It is similar to amyotrophic lateral sclerosis in clinical manifestations, but its prognosis is quite different. The onset age is young, and the affected parts are mostly the hand muscles at the distal end of the unilateral upper limb. The electromyography shows neurogenic damage, and the course of the disease is benign, which can be stopped automatically.
It refers to a kind of disease that causes muscle weakness and muscular atrophy due to degeneration of spinal cord anterior horn cells. It is a hereditary disease that selectively affects lower motor neurons, but not upper motor neurons.
Kennedy disease
A recessive hereditary motor neuron disease, which usually starts at the age of 20~60 years old, and is characterized by slow progressive muscle weakness followed by atrophy, mainly involving facial, bulbar and limb muscles.Often superior motor neurons are involved, often accompanied by androgen deficiency, including feminization of male breasts, spermatogenesis defects, etc., and gene testing is required for diagnosis.
treatment
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Amyotrophic lateral sclerosis is still an incurable disease, but there are many ways to improve the quality of life of patients and delay the progress of the disease.
The disease needs early diagnosis, early treatment, and timely neuroprotective and supportive treatment.
General treatment
Nutrition management
When you can eat normally, you should pay attention to a balanced diet to get enough nutrition.
For patients with mastication and dysphagia, the diet should be changed, and a high protein and high calorie diet should be adopted to ensure nutrition intake. Soft food, semi liquid food, and less and more meals should be taken.
For patients with severe dysphagia or frequent cough, percutaneous endoscopic gastrostomy may be considered.
Respiratory support
Ensure that the respiratory tract is unobstructed, and pay attention to auxiliary sputum drainage.
In case of respiratory muscle weakness, noninvasive auxiliary ventilation can be given. If necessary, tracheotomy can be performed and a ventilator can be used to assist breathing.
psychotherapy
Patients often havedepressed、anxiousIf necessary, professional psychologists should be consulted to adjust the psychological state of patients.To face the disease with a more positive attitude is conducive to the treatment of the disease.
The mechanism of action includes stabilizing the inactive state of voltage-gated sodium channel, inhibiting presynaptic glutamate release, and activating postsynaptic glutamate receptor to promote glutamate uptake.
Adverse reactions: fatigue and nausea.
Contraindication: It is forbidden for patients with severe liver disease, pregnant women and lactating women.
Precautions: use with caution in patients with renal insufficiency;The serum transaminase value of patients with mild and moderate liver disease should be monitored before and during treatment. If the transaminase level rises to 5 times the normal value, the treatment should be stopped.
A free radical scavenger that can improve nervous system function and slow down the impact of amyotrophic lateral sclerosis on daily activities of patients.
Adverse reactions: mainly manifested as abnormal liver function, skin rash, etc.
Contraindication: It is forbidden for patients with severe renal failure and allergy to this product.
Precautions: The elderly, patients with mild to moderate renal function damage, liver function damage and heart disease should use it with caution.
TCM treatment
The TCM treatment of the disease is not supported by evidence-based medical evidence, but some TCM treatment methods or drugs can alleviate symptoms, so it is recommended to go to regular medical institutions and treat under the guidance of doctors.
Other treatments
Amyotrophic lateral sclerosis patients will have progressive muscle weakness, muscular atrophy, and increased muscle tension, which will lead to joint ankylosis contracture. The quality of life can be improved through rehabilitation physiotherapy training.
prognosis
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The disease can not be eradicated yet. The disease progress can only be delayed and cannot be avoided. The prognosis is poor. Most patients die of respiratory muscle paralysis or lung infection within 3 to 5 years.
recovery
The quality of life can be improved through rehabilitation training according to the guidance of professionals.
complication
The common complications of ALS include pulmonary infection, limb paralysis, respiratory muscle paralysis, arrhythmia, etc.
Research progress
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At present, the international community is trying toNeurotrophic factor、antioxidantasvitamin E、vitamin Cas well ascreatine, CoQ10, etc. in combination with Lirutai to provide protective treatment for amyotrophic lateral sclerosis.However, the above treatment needs to be confirmed by clinical trials.In addition, scientists are also conducting research on this diseasegene therapyOfexperimental study 。
In July 2022, in the artificial intelligence drug research and development company Intel Intelligent, the United StatesJohns Hopkins University School of Medicine、Harvard UniversitysubsidiaryMassachusetts General Hospital, ChinaTsinghua UniversityIn the research cooperation with other institutions, researchers use artificial intelligence called "PandaOmics"Biological targetThe discovery platform analyzed data from multiple public sourcesdata setOfcentral nervous systemsampleTranscriptomeData, and a large number of“Progressive frostbite”Patientmotor neuronTranscriptome andProteomeData.artificial intelligenceBy analyzing these factors related to the progress of "progressive frostbite" diseasebig data17 high confidence targets and 11 new therapeutic targets were identified.The researchers then simulated the situation of patients with "progressive frostbite"Drosophila melanogasterIt was verified in the model that 18 of the 28 targets mentioned above could alleviate neurodegenerative symptoms.
September 2022 (reporting time), the United StatesSida SinaiMedical center researchers have developed a combination of stem cells and gene therapy that can potentially protectAmyotrophynatureLateral funiculusSclerosis（ALS, commonly known as progressive frostbite).The research team confirmed thatCombined treatmentIts implementation is safe for human beings.The research results were published in the recent journal Nature Medicine.
October 2023, published in the latest issue《Scientific progress》According to the results of a previous study, the United StatesThe Johns Hopkins University Develop a new method for the treatment of ALSBrain computer interface（BCI）, which can maintain 90% accuracy within 3 months, without retraining or recalibrating the algorithm.
On June 7, 2024, a new discovery on progressive frostbite was first published, which indicates that the onset of progressive frostbite is related to changes in muscles.
