The motor functions are gradually lost and the body feels like it is frozen. Is there no cure for this disease?

Author: Xing Yan, Chief Physician of Aviation General Hospital

Reviewer: Jiang Yuwu, Chief Physician, Peking University First Hospital

ALS, medically known as motor neuron disease, is a chronic, progressive neurodegenerative disease of the nervous system, of which amyotrophic lateral sclerosis is the most common type.

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ALS is a disease in which the entire motor system is gradually affected, manifesting as progressive skeletal muscle weakness and atrophy, and the progression is relatively rapid. In the end, except for the ability to move the eyeballs, all other motor functions are lost, as if frozen, hence the name ALS.

The cause of ALS is still unclear, about 10%-20% is hereditary and has a family history. Most of the causes are unclear, and may be related to exposure to heavy metals or some toxins. On the basis of genes, environmental factors work together to cause the disease.

1. Is ALS easy to detect and diagnose in the early stages?

The early symptoms of ALS are very mild, and most of them start from the limbs, which may manifest as weakened hand strength or inflexible hand movements. For example, holding chopsticks or writing does not feel as flexible as before; it is difficult to do some fine movements, and sometimes the whole body will twitch.

Some may initially present with unclear speech, unclear articulation or slurred speech, or choking when drinking water and having difficulty swallowing.

Gradually, the disease will affect other parts of the body. For example, if the disease starts on one upper limb, the muscles of the hand will become weak first, and then gradually atrophy will occur; then it will develop upwards, and the arm will become weak; then the muscles of the neck and shoulders will atrophy, and it will be difficult to lift the entire neck and shoulder muscles; then it will gradually move upwards, and swallowing difficulties or choking when drinking water will occur. Some may go directly downwards, and gradually become weak in walking, and some may gradually develop to the opposite limbs.

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ALS usually affects voluntary muscles, which are muscles that are controlled by will, that is, muscles that we can control. Involuntary muscles, such as cardiac muscles, gastrointestinal muscles, bladder sphincters, and eye muscles, are not affected.

In general, ALS mainly manifests as movement disorders, and the onset of the disease varies depending on the site of onset. It is easy to misdiagnose in the early stages because many diseases can cause simple muscle weakness, such as peripheral neuropathy, cerebrovascular disease, cervical spondylosis, etc.

2. How is ALS diagnosed?

ALS only affects the motor nerves and usually does not cause sensory abnormalities. If numbness or pain occurs in the limbs, motor neuron disease is generally not considered, so it is very important to carefully inquire about the medical history.

If the symptoms suggest that only the motor system is affected, a professional doctor will make a careful physical examination to determine the cause. If the problem is related to the motor nervous system, an electromyogram will usually be performed to further verify and determine the extent and severity of the lesion. Other related tests will also be performed to rule out other diseases, such as MRI, blood tests, and lumbar puncture for cerebrospinal fluid examination.

3. Is there any way to treat ALS?

The cause of ALS is currently unclear. At present, all medical treatments for ALS can only delay disease progression, improve patients' quality of life, and alleviate patients' pain in the short term, but cannot fundamentally change the patient's outcome. There is currently no hope of a cure for ALS.

Although the outcome of the disease is not good, and although we cannot prolong the patient's life, we can extend the width of the patient's life within a limited time. Therefore, both the patient and his family should look at this matter rationally and objectively.

4. Is ALS hereditary?

ALS has a 10%-20% chance of being inherited. When young people have ALS, they must be alert to whether it is a family history. As long as there is more than one person in the family with the disease, we believe that there is a family history of the disease. For the patient or other family members, genetic testing is recommended.

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Although there is currently no effective treatment for ALS, genetic testing is still very helpful in blocking the inheritance of disease-causing genes.

For example, if a patient undergoes a genetic test and determines their genotype, and then wants to have a child after marriage, they can use prenatal diagnosis to find out whether the fetus carries the disease-causing gene. If the fetus does not carry the disease-causing gene, it can prevent the birth of a baby with the same disease; but if the fetus carries the disease-causing gene, the parents can choose to terminate the pregnancy in time.