What Is Amyotrophic Lateral Sclerosis?

Amyotrophic lateral sclerosis (ALS) is also called motor neuron disease (MND). The latter name is commonly used in the United Kingdom, France is also called Charcot disease, and the United States is also called Lou Gehrig disease. China usually mixes amyotrophic lateral sclerosis and motor neuron disease. It is caused by damage to the upper motor neuron and lower motor neuron, resulting in gradual weakness and atrophy of the muscles including the bulb (the so-called bulb, which refers to the part of the muscle that is dominated by the medulla oblongata), the limbs, the trunk, and the chest and abdomen. ^[1]

Basic Information

nickname: Motor neuron disease, Charcoal disease, Lugarat's disease, Frozen people
English name: amyotrophic lateral sclerosis
Visiting department: Neurology, Dermatology

Multiple groups: 40-50 years old male
Common causes: Unknown, may be related to genetic and genetic defects
Common symptoms: In the early days, it was only weakness, jumping, fatigue, swallowing, and difficulty speaking.

Causes of amyotrophic lateral sclerosis

The cause of amyotrophic lateral sclerosis is unknown. 20% of cases may be related to genetic and genetic defects. In addition, some environmental factors, such as heavy metal aluminum poisoning, may cause motor neuron damage. The main causes of motor neuron damage are:

1. Accumulation of neurotoxic substances, glutamate accumulates between nerve cells, and causes damage to nerve cells over time.

2. Free radicals damage nerve cell membranes.

3. Nerve growth factor deficiency makes nerve cells unable to continue to grow and develop.

Clinical manifestations of amyotrophic lateral sclerosis

Early symptoms are mild and easily confused with other diseases. The patient may just feel some symptoms such as weakness, fluttering, fatigue, etc., and gradually progress to atrophy of the whole body and difficulty in swallowing. Finally, respiratory failure occurs.

It can be roughly divided into two types according to clinical symptoms:

Limb onset

Symptoms are progressive atrophy and weakness of the limb muscles, and finally respiratory failure.

2. Rostral disease

Difficulty swallowing and speaking early, and progressed to respiratory failure soon.

Amyotrophic lateral sclerosis

To diagnose amyotrophic lateral sclerosis early, in addition to clinical neurological examinations, electromyography, nerve conduction velocity tests, serum specific antibody tests, lumbar puncture cerebrospinal fluid tests, imaging tests, and even muscle biopsies are required.

Diagnosis of amyotrophic lateral sclerosis

1. Medical history collection and neurological examination

The first important step in the diagnostic process is a clinical consultation by a neurologist. Perform a collection including a detailed history of present illness, family history, work and environmental exposure. During the consultation, the neurologist will look for typical manifestations of amyotrophic lateral sclerosis:

(1) Check to evaluate the muscle strength of chewing and swallowing, including the mouth, tongue and throat muscles.

(2) Inferior motor neuron (LMN) functions, such as muscle atrophy, muscle strength or muscle beating (known as myofibrillation).

(3) Upper motor neuron (UMN) functions, such as hypertenoid reflexes and muscle spasms (degrees of muscle tension and stiffness)

(4) Loss of control of emotional reactions, such as emotional changes in crying or laughing. Changes in thinking such as loss of judgment or loss of basic social skills. The examiner will also evaluate the patient's speech fluency and text recognition ability. These symptoms are not common and are not easily taken seriously.

(5) The neurologist will also ask questions such as pain, loss of sensation, or extrapyramidal problems.

2. Auxiliary inspection

The next step in the diagnostic process is often a series of auxiliary tests, such as neck MRI (magnetic resonance imaging), head and waist MRI, EMG (electromyography), nerve conduction velocity, and blood tests. Sometimes genetic testing or lumbar puncture is done.

(1) Magnetic resonance imaging (MRI) is a painless, non-invasive examination that can provide the spinal cord and the surrounding and protective structure of the spinal cord and connective tissue in great detail. It will help to exclude compression of the spinal cord or major nerves (such as protruding discs), multiple sclerosis, abnormalities such as compression of nerves by bone tumors, spinal cord or stroke.

(2) Electromyography (EMG) is a very important part of the diagnostic process. This check is sometimes uncomfortable, but it needs to be done. The first part uses small electrodes to send stimuli through the nerve at a specific location and receive signals at another location. The conduction velocity was measured according to the time required to determine whether there was nerve damage. The second part tests the electrical activity of selected muscles. A thin needle is inserted into selected muscles and used to "listen" to the electrical activity patterns of these muscles.

(3) Blood, urine and other tests Blood tests are used to screen for other diseases, and some disease symptoms are similar to the early signs of amyotrophic lateral sclerosis. These tests include thyroid or parathyroid disease, vitamin B ₁₂ deficiency, HIV infection, hepatitis, autoimmune diseases, and certain types of cancer. Creatine kinase (CK) is an enzyme released from muscle injury or death and is often checked. Others include autoimmune antibodies and anti-GM1 antibody tests to look for blood markers that may be associated with certain cancers. Depending on the patient's work and environment, heavy metal testing may also be performed. If other members of the family have amyotrophic lateral sclerosis, an amyotrophic lateral sclerosis gene test should be performed. Sometimes it may be necessary to wear a waist. In addition to weakness, some patients have pain or very high levels of creatine phosphokinase (CK) and may require a muscle biopsy.

3. Diagnosis

After these tests are completed, an experienced neurologist can determine if the patient is amyotrophic lateral sclerosis. Sometimes it is true that not all the symptoms and test results needed by the clinic are abnormal (especially in the earliest stages of the disease). In this case, the neurologist will recommend a follow-up visit and repeat the physical examination and electromyography after 3 months.

Amyotrophic lateral sclerosis treatment

Make the diagnosis and differential diagnosis as early as possible, give neuroprotective and supportive treatment as early as possible, such as Lirutai and other drugs, and insist on regular follow-up.

General therapy

Supportive therapy: symptomatic treatment, proper exercise. Such as pay attention to the function of the respiratory tract and digestive tract. If you have more saliva, you can give a small amount of anti-amine drugs; if you have more sputum, you can give aerosol inhalation and sputum; In addition, you have to turn around to prevent pressure ulcers. If eating disorders, give nasal feeding or percutaneous gastrostomy (PEG).

2. Special Therapy

Currently, Rilutek, the only drug approved by the US Food and Drug Administration (FDA) to treat amyotrophic lateral sclerosis, must be used as soon as possible.

3. Respiratory therapy

When you start to have trouble breathing, you can use general oxygen or a double positive pressure ventilator (BiBAP) to help breathing. When further respiratory failure occurs, you need to open the trachea and use an artificial ventilator.

4. Research progress

At present, international attempts are being made to use neurotrophic factors, antioxidants such as vitamin E, vitamin C, creatine, and CoQ10 in combination with Lirutai to protect the amyotrophic lateral sclerosis. However, the above treatment is yet to be confirmed by clinical trials. In addition, scientists are also conducting experimental research on gene therapy for this disease. ^[3-5]