Lateral (lateral) amyotrophic sclerosis (and ALS syndrome). Amyotrophic Lateral Sclerosis: An Expert's Tale

Reference. In addition to amyotrophic lateral sclerosis, the group of slow CNR infections includes such rare diseases as spongiform encephalopathy, kuru, or "laughing death", Gerstmann-Streusler disease, amyotrophic leukospongiosis, Van Bogart's subacute sclerosing panencephalitis.

The lethality of the disease will depend on the stage of progression. Despite the large amount of damage to the body, amyotrophic lateral sclerosis does not affect the mental abilities of a person.

Disease classification

The disease is divided into the following forms:

  • sclerosis that occurs in the lumbosacral region;
  • cervicothoracic lesion;
  • damage to a peripheral neuron in the brain stem, referred to in medicine as a bulbar species;
  • damage to the central motor neuron.

It is also possible to divide amyotrophic lateral sclerosis into types according to the rate of development of the disease and the presence of certain neurological symptoms.

  1. With the Marian form, the symptoms of the disease appear early, but the course of the disease is slow.
  2. Sporadic or classic ALS is diagnosed in most patients. The disease develops according to the standard scenario, the rate of progression is average.
  3. Charcot's disease of the family type is characterized by a genetic predisposition, and the first symptoms appear rather late.

Causes of amyotrophic lateral sclerosis

The disease develops due to the death of motor neurons. It is these nerve cells that control the motor ability of a person. The result is a weakening of muscle tissue and its atrophy.

Reference. In 5-10% of cases, ALS can be transmitted at the genetic level.

In other cases, amyotrophic lateral sclerosis occurs spontaneously. The disease is still being studied, and scientists can name the main causes of ALS:

Who can develop this disease, this is evidenced by risk factors:

      1. 10% of ALS patients inherited the disease from their parents.
      2. Most often, the disease affects people aged 40 to 60 years.
      3. Men are diagnosed with the disease more often.

Environmental factors that increase the risk of developing amyotrophic lateral sclerosis:

      1. According to statistics, ALS patients were active smokers in the past, thus, smokers have an increased risk of developing the disease.
      2. Penetration of lead vapors into the body when working in hazardous industries.

Symptomatic manifestations

Any form of Charcot's disease has common unifying features:

      • the organs of movement cease to function;
      • there are no disturbances in the sense organs;
      • defecation and urination occur normally;
      • the disease progresses even with treatment, over time the person becomes completely immobilized;
      • at times there are convulsions, accompanied by severe pain.

The role of neurology in diagnosis

As soon as a person notices changes in the muscle system, you should immediately contact a neurology specialist with a neurologist. Unfortunately, the diagnosis of amyotrophic lateral sclerosis in the early stages of the disease is not often made. Only after a certain period of time can one accurately name this particular disease.

The task of the neurologist is to collect a detailed medical history of the patient and his neurological status:

      1. Reflexes appear.
      2. The strength of muscle tissue.
      3. Muscle tone.
      4. visual and tactile status.
      5. Movement coordination.

In the early stages of the disease, the symptoms of ALS are similar to those of other neurological disorders. The doctor will refer the patient, first of all, to the following research methods:

      1. Electroneuromyography.
      2. Magnetic resonance imaging.
      3. Study of urine and blood. This method allows you to exclude the presence of other diseases.
      4. A biopsy of muscle tissue is performed in order to exclude muscle pathologies.

There is no specific therapy for the disease. ALS has a significant difference from a similar disease, multiple sclerosis. Amyotrophic lateral sclerosis does not proceed in stages of exacerbation and remission, but is characterized by a steadily progressive course.

The human nervous system is very vulnerable. That is why there are many different diseases that can affect this particular part of the body. In this article I would like to talk about what is ALS (disease). Symptoms, causes of the disease, as well as methods of diagnosis and possible treatment.

What's this?

At the very beginning, you need to understand the basic concepts. It is also very important to understand what ALS (disease) is, the symptoms of the disease will be discussed a little later. Deciphering the abbreviation: atrophic lateral sclerosis. With this disease, the human nervous system is affected, namely, motor neurons suffer. They are located in the cerebral cortex and in the anterior horns of the spinal cord. It is also worth mentioning that this disease has a chronic form and, unfortunately, is currently incurable.

Types

There are also three types of ALS disease:

  1. Sporadic, classic. Not inherited. It accounts for approximately 95% of all cases of morbidity.
  2. Hereditary (or family). As it has already become clear, it is inherited. However, this type of disease is characterized by a later manifestation of the first symptoms.
  3. Guam-type or Mariana form. Its feature: it appears earlier than the two above. The development of the disease is slow.

First symptoms

It is worth saying that the first symptomatology of this disease may also apply to other other diseases. This is precisely the insidiousness of the problem: it is almost impossible to diagnose it immediately. So, ALS has the following symptoms:

  1. Muscle weakness. It mainly concerns the ankles and feet.
  2. Atrophy of the arms, weakness of their muscles. Dysmotility may also occur.
  3. In patients at an early stage of the disease, the foot may sag slightly.
  4. Characterized by periodic muscle spasms. Shoulders, arms, tongue may twitch.
  5. The limbs are weakened. The patient has difficulty walking long distances.
  6. The occurrence of dysarthria is also characteristic, i.e. speech disorder.
  7. There are also initial difficulties with swallowing.

If a patient has ALS (disease), symptoms will develop and increase as the disease progresses. Further, the patient may periodically feel causeless fun or sadness. Atrophy of the tongue and imbalance may occur. All this happens because a person suffers from higher mental activity. In some cases, before the main symptoms appear, cognitive functions may be impaired. Those. dementia appears (this happens infrequently, in about 1-2% of cases).

Development of the disease

What else is important to know for people who are interested in ALS (disease)? Symptoms that occur in a patient as the disease develops can tell what kind of disease he has:

  1. ALS limbs. First of all, the legs are affected. Further, the dysfunction of the limbs progresses.
  2. Bulbar ALS. In this case, the main symptoms are impaired speech function, as well as problems with swallowing. It is worth saying that this type of disease is much less common than the first.

Increase in symptoms

What should a patient who has a disease like ALS know? Symptoms will gradually increase, the functionality of the limbs will decrease.

  1. Gradually, pathological will occur when the upper motor neurons are affected.
  2. Muscle tone will be increased, reflexes will be enhanced.
  3. Gradually, the lower ones will also be affected. In this case, the patient will feel involuntary twitching of the limbs.
  4. At the same time, quite often, sick people develop a depressive state, spleen occurs. All because a person loses the ability to exist without anyone's help, the ability to move is lost.
  5. With ALS, the symptoms also concern the patient, interruptions in breathing begin.
  6. Self-catering also becomes impossible. The patient is often inserted into a special tube through which a person receives all the food necessary for existence.

It is worth saying that ALS can occur quite early. Symptoms at a young age will not differ from the symptoms of a patient in whom the first signs appeared much later. It all depends on the body, as well as on the type of disease. With the development of the disease, a person gradually becomes disabled, loses the ability to exist independently. Over time, the limbs completely fail.

Last stage

In the last stages of the disease, the patient often has impaired respiratory function, and respiratory muscle failure is possible. In such cases, patients need ventilation. Over time, the drainage function of this organ may develop, which often leads to the fact that a secondary infection joins, which further kills the patient.

Diagnostics

Having considered such a disease as ALS, symptoms, diagnosis - that's what I also want to talk about. It is worth saying that this disease is detected most often by excluding other problems with the body. In this case, the following can be prescribed to the patient:

  1. Blood analysis.
  2. muscle biopsy.
  3. X-ray.
  4. Tests to determine muscle activity.
  5. CT, MRI.

Differentiation

It is worth saying that this disease has symptoms that are manifested in other diseases. That is why it is necessary to differentiate ALS with the following problems:

  1. Intoxication with mercury, lead, manganese.
  2. Guienne-Bare syndrome.
  3. Malabsorption syndrome.
  4. Endocrinopathy etc.

Treatment

After a little consideration of such a disease as ALS, symptoms, treatment - that's what you also need to pay special attention to. As already mentioned above, it is impossible to completely recover. However, there are drugs that help slow down the course of the disease. In this case, patients most often take medications such as Riluzol, Rilutek (daily twice a day). This drug is able to slightly prevent the release of glutamine, a substance that affects motor neurons. However, various methods of therapy will also be useful, the main goal of which is to combat the main symptoms:

  1. If the patient is depressed, he may be prescribed antidepressants, tranquilizers.
  2. With muscle spasms, it is important to take muscle relaxants.
  3. If necessary, anesthesia can be prescribed, at a late stage of the disease - opiates.
  4. If the patient has disturbed sleep, benzodiazepine preparations will be needed.
  5. If there are bacterial complications, you will need to take antibiotics (in ALS, bronchopulmonary diseases often occur).

Auxiliary means:

  1. speech therapy.
  2. Saliva ejector or taking a drug such as Amitriptyline.
  3. Tube feeding, diet.
  4. The use of various devices that can ensure the movement of the patient: beds, chairs, canes, special collars.
  5. Artificial ventilation may be needed.

Traditional medicine, acupuncture for this disease are useless. It is also worth mentioning that not only the patient, but also his relatives often need the help of a psychotherapist.

In 1869, the French psychiatrist Charcot made an accurate description of such a disease as amyotrophic lateral sclerosis.

What is this disease

With the development of this disease, degeneration of the peripheral and central neurons of the main pathway of the nervous system occurs. In this case, some elements are replaced by glia. The pyramidal bundle is usually affected much more strongly in the lateral columns. Hence the epithet - lateral. As for the peripheral neuron, it is very strongly affected in the region of the anterior horns. That is why the disease is accompanied by another epithet - amyotrophic. At the same time, the name accurately emphasizes one of the clinical signs of the disease - muscle atrophy. ALS syndrome is a rather severe disease. It is worth noting that the name that Charcot gave to the disease reflects as much as possible all its characteristic features: the symptoms of damage to the pyramidal bundle located in the lateral column are combined with muscle atrophy.

Symptoms of the disease

Today, many people are forced to live with such an ailment as ALS syndrome. The symptoms of this disease are completely different. It is worth noting that there are practically no common symptoms of the disease. ALS develops individually. At an early stage, there are some signs that allow you to determine the development of this disease.

  1. Movement disorders. The patient begins to stumble very often, drop things and fall as a result of weakening, as well as partial muscle atrophy. In some cases, soft tissues simply become numb.
  2. Muscle cramps. Most often, this phenomenon occurs in the calf area.
  3. Fasciculation is minor. Often this phenomenon is described as "goosebumps." Fasciculation usually appears on the palms.
  4. Partial noticeable atrophy of the muscle tissues of the legs and arms. Especially often such processes begin in the region of the shoulder girdle: the collarbone, shoulder blades and shoulders.

ALS develops differently for each person. This disease is very difficult to diagnose in the early stages. If a person has some signs of amyotrophic lateral sclerosis, but the diagnosis is not confirmed, then the patient may suffer from a completely different ailment.

Other signs of ALS

ALS syndrome is characterized by progressive development. In other words, the atrophy and weakening of the muscle tissues listed above only increase. If a person had difficulty fastening buttons, then over time he simply will not be able to do it at all. This also applies to other skills.

Gradually, the patient loses the ability to walk. At first, he may need a regular walker, and in the future - a wheelchair. In addition, weakened muscles will not be able to support the patient's head in the desired position. She will always sink to her chest. If the disease covers the muscles of the entire body, then the person will practically not be able to get out of bed, stay in a sitting position for a long time, and also roll over from side to side.

As for speech, there will also be problems. The patient gradually develops ALS syndrome. Symptoms of this disease can be completely different. At the initial stage, the patient begins to speak "in the nose." His speech becomes less and less clear. As a result, it may disappear altogether. Although many patients retain the ability to speak until the end of their lives.

Other difficulties

If the diagnosis is made, and the disease is ALS syndrome, then the relatives of the patient should prepare for great difficulties. In addition to the fact that a person almost completely loses the ability to move, he also begins to have problems with meals. In some cases, increased salivation may begin. This phenomenon also causes many inconveniences and can be very dangerous. After all, while eating, the patient can swallow saliva in large quantities. At some point, enteral nutrition may be required.

Gradually, there are various disorders associated with the work of the respiratory system. This can lead to respiratory failure. Such diseases of the central nervous system bring many problems. Often, patients also experience suffocation. Very often, people with amyotrophic lateral sclerosis suffer from nightmares. There are cases when, due to a lack of oxygen, the patient begins to hallucinate, as well as a feeling of disorientation.

Why does amyotrophic lateral sclerosis occur?

Many clinicians view this disease as a degenerative process. However, the true causes of amyotrophic lateral sclerosis are still unknown. Some experts believe that this disease is an infection that is caused by a filter virus. ALS syndrome is a relatively rare disease that begins to develop in a person at about 50 years of age.

As for doctors with considerable experience, they are used to dividing everything organic into diffuse and systemic. As for amyotrophic lateral sclerosis, only the motor pathways are affected here, but the sensitive ones remain completely normal. As a result of histopathological studies, some corrections were made to the previous idea of ​​​​systemic lesions.

So what can explain the development of a particular pathology of the brain and spinal cord? Apparently, with a certain disease, systemicity depends on several factors.

  1. The special similarity of a toxin or virus with a certain nerve formation. And this is quite possible. After all, toxins have completely different chemical characteristics. In addition, the central nervous system is far from homogeneous in this regard. Maybe this is the cause of amyotrophic lateral sclerosis?
  2. Also, the disease can occur as a result of the specifics of the blood supply to certain areas.
  3. The reason may be the peculiarities of lymph circulation in the spinal canal and liquor circulation in the central nervous system.

So, why it occurs is still unknown. And scientists from all over the world are only speculating.

Diagnosis of the disease

In most cases, the diagnosis of amyotrophic lateral sclerosis causes some difficulties. After all, the disease is distinguished by changes in the cerebrospinal fluid, etiology, the presence of neurosyphilitic, most often pupillary symptoms. Diagnosing ALS syndrome is difficult for several reasons.

  1. This is a fairly rare disease.
  2. Each person's disease strikes differently. In this case, there are not so many common symptoms.
  3. Early symptoms of amyotrophic lateral sclerosis may be mild, such as slightly drawn-out speech, clumsiness in the hands, and clumsiness. In this case, the listed symptoms may be a consequence of other diseases.

However, when diagnosing amyotrophic lateral sclerosis, it should be remembered that many diseases occur with selective damage to motor structures. With ALS syndrome, the patient may experience pain in the neck area, as well as protein-cell dissociation of the cerebrospinal fluid, a block on the myelogram, and loss of sensitivity.

If the doctor has suspicions, then he should refer the patient to a neurologist. And only after that it may be necessary to undergo a series of diagnostic studies.

ALS treatment

As already mentioned, ALS syndrome is an incurable disease. Therefore, there is still no cure for this disease in the world. However, there are many remedies that allow you to eliminate the symptoms. For example, in Europe and the USA, the drug "Riluzole" is used. This is the first and only drug that has been approved. However, in our country, this drug has not yet been registered. The doctor cannot officially recommend it. It is worth noting that this remedy does not relieve the disease. However, it is it that affects the life expectancy of patients with ALS syndrome. This drug is available in tablets. Take it several times a day. Please read the leaflet carefully before use.

How Riluzol works

When a nerve impulse is transmitted, glutamate is released. This substance is a chemical mediator in the central nervous system. The drug "Riluzole" allows you to reduce the amount of glutamate. Studies have shown that an excess of this substance can lead to damage to the neurons of the spinal cord and brain.

Clinical trials of the drug have shown that those patients who take Riluzol live much longer than others. At the same time, their life expectancy increased by about 3 months (compared to those who took placebo).

Antioxidants for disease

Since the causes of amyotrophic lateral sclerosis have not yet been established, there is no cure for the disease. Scientists believe that people with ALS are more susceptible to the negative effects of free radicals. Recently, special studies have begun to be carried out, which are aimed at identifying all the beneficial effects exerted on the body as a result of taking supplements that contain antioxidants. Before using these drugs, you need to consult a specialist.

Antioxidants are a separate class of nutrients that help the human body prevent all sorts of damage from free radicals. However, some supplements that have already passed clinical trials, alas, did not give the expected positive effect. Unfortunately, some diseases simply cannot be cured. As much as you want.

Concomitant Therapy

Concomitant therapy can make life much easier for those who have ALS syndrome. The treatment of this disease is a rather lengthy process. Therefore, it is important not only to treat the underlying disease, but also the accompanying symptoms. Experts believe that complete relaxation allows you to forget about fear and relieve anxiety at least for a while.

To relax the patient's muscles, you can use reflexology, aromatherapy and massage. These procedures normalize the circulation of lymph and blood, and also allow you to get rid of pain. Indeed, during their implementation, stimulation of endogenous painkillers and endorphins occurs. However, each violation of the central nervous system requires an individual approach. Therefore, before starting a course of procedures, you should be examined by specialists.

Finally

Today there are many incurable diseases. This is what ALS syndrome is about. Photos of patients with amyotrophic lateral sclerosis are simply shocking. These people have suffered a lot, but in spite of everything, they live. Of course, it is impossible to completely get rid of the disease, but there are many methods to eliminate some of the symptoms. The main thing to remember is that a person suffering from ALS syndrome needs help and constant supervision. If you do not have the necessary skills, you can seek help from narrow specialists and physiotherapists.

ALS disease is one of the rapidly progressing diseases and the patient cannot do without the help of a doctor. The article describes in detail how the ALS disease proceeds, and what symptoms it is accompanied by.

ALS disease (amyotrophic lateral sclerosis) is a fairly rapidly progressive disease, resulting in fatal neurological diseases, and therefore requires immediate treatment.

ALS disease affects directly those nerve cells that are responsible for performing voluntary muscle movements. In the presence of this disease, the complete death of the lower and upper motor nerve cells or neurons occurs, therefore, the supply of impulses to the muscles also stops. Those muscles that gradually cease to function begin to slowly weaken, as a result of which they can completely atrophy. Over time, the brain begins to lose its ability not only to initiate, but also to control the voluntary movements performed. Unfortunately, to date, it has not been possible to accurately establish the causes that can provoke the development of this disease.

The first symptoms of this unpleasant disease, as a rule, begin to appear in the legs and arms, after which the swallowing function is also disturbed. In parallel, progressive muscle weakness will be observed on both sides of the body. People who suffer from amyotrophic lateral sclerosis begin to gradually lose muscle strength, as well as the ability to move their legs and arms, it gradually becomes more and more difficult for them to keep their body upright.

After there is a violation of the proper functioning of the muscles of the chest and diaphragm, the patient begins to gradually lose the ability to breathe on his own, and this becomes possible only with the help of special respiratory support. However, the disease has absolutely no effect on a person's ability to smell, taste, hear and see, and there is no impairment of touch. Despite the fact that, as a rule, the disease is not accompanied by any disturbances in the human psyche, there are cases when patients begin to develop certain cognitive problems.

Unfortunately, to date, scientists have not been able to establish the most effective treatment, so ALS disease should always be monitored by an experienced specialist. Riluzole, the only drug that is widely used today, will help the patient prolong life by about two or three months, but at the same time he is not able to relieve all symptoms.

Other treatments can be used, the main goal of which is to completely eliminate all symptoms, which will make life easier for patients. In order to help people suffering from specific diseases, special painkillers can be used, which also help relieve severe panic attacks or depression.

In order to prevent the intensive progression of first muscle weakness, and then complete muscle atrophy, patients are prescribed a special course of occupational therapy, physiotherapy, and rehabilitation. Ultimately, people suffering from ALS need a ventilator procedure.

This disease develops in a strictly individual order, which is why it is quite difficult to list all the possible symptoms. However, despite this, there are several common signs that may appear in the early stages of the development of the disease.

The main signs of ALS:

There is a violation of the patient's speech;

Certain motor disorders are observed - the patient begins to drop objects quite often, constantly stumbles or falls due to the fact that partial muscle atrophy occurs, and muscle numbness is also possible;

In some cases, quite severe muscle cramps may appear, for example, calf muscles;

Partial atrophy of the muscles of the legs, arms, palms, shoulder girdle (clavicles, shoulder blades, shoulders) begins to gradually appear;

There is a slight twitching of the muscles, that is, fasciculia, which patients can describe as the appearance of "goosebumps" on the skin, which at first will appear on the palms.

As already mentioned above, this disease develops on an individual basis, which is why it will be so difficult to determine the disease in the early stages of development. Therefore, people who have not been diagnosed with such a diagnosis by a doctor, but who have one or more of the above symptoms, do not necessarily suffer from ALS.

This disease is characterized by progressive development, which is why the first weakening and then complete muscle atrophy occurs much faster. A patient who loses the ability to independently perform some flexible movements (for example, fasten buttons on a shirt) will soon completely lose the ability to perform such actions.

Over time, other symptoms of ALS may begin to appear - in parallel with the feeling of discomfort during meals, increased salivation may begin, which can be very dangerous. Since too much saliva begins to enter the esophagus, as a result of its improper functioning, the patient may literally begin to choke on saliva. In such cases, a person needs special enteral nutrition.

Over time, the patient may develop problems that are directly related to acute respiratory failure. That is why, when the first signs appear, it is worth contacting an experienced specialist.

The first to describe and single out amyotrophic lateral sclerosis as a separate nosology was a French psychiatrist. Jean-Martin Charcot in 1869

ALS disease, like no other pathology of the nervous system, has many synonyms for its name. This is motor neuron disease or motor neuron disease, and Charcot's disease, and Lou Gehrig's disease (the term is more often used in Western European countries and America). But no matter how this disease is called, it steadily leads to severe disability and inevitable death.

What is BAS?

(amyotrophic lateral sclerosis, ALS) is a chronic neurodegenerative constantly progressive pathology of the nervous system, characterized by damage to the central and peripheral motor neurons, followed by the development of plegia (paralysis), muscle atrophy, bulbar and pseudobulbar disorders.

Amyotrophic lateral sclerosis in 95% of cases is a sporadic disease, that is, it has no direct connection with diseases of the next of kin. 5% of diagnosed ALS is due to hereditary pathology. Familial ALS was first identified and confirmed on the island of Guam (Mariam Islands).

Motor neuron disease is quite rare - 1.5 - 5 cases per 100 thousand population. The peak incidence occurs at the age of about 50 years with a familial form of the disease and 60-65 years with sporadic. But this does not mean at all that Charcot's disease does not occur at a young age. Men suffer from ALS almost 1.5 times more often than women. Although upon reaching the age of 60 this difference disappears - both sexes get sick equally often.

ALS disease must be clearly differentiated from such an ailment as amyotrophic lateral syndrome (ALS syndrome), because the latter is a manifestation of other diseases of the nervous system (for example, tick-borne encephalitis, stroke, etc.), and not a separate nosology. And most often these are curable diseases that, with timely diagnosis and treatment, do not lead to death.

Death in amyotrophic lateral sclerosis occurs as a result of complications such as congestive pneumonia, septic phenomena, respiratory muscle failure, etc.

A bit of terminology

To understand the essence of this terrible disease, you need to understand a little bit such complicated neurological terminology as the central and peripheral motor neuron, bulbar and pseudobulbar syndromes. Since a person far from medicine, these words will not say anything.

The central motor neuron is located in the precentral gyrus of the cerebral cortex, the so-called motor area. If this part of the brain is damaged, then central (spastic) paralysis develops, which is accompanied by the following symptoms:

  • weakness in the muscles of varying severity (from complete lack of movement to slight awkwardness of movement);
  • increased muscle tone, development of spasticity;
  • strengthening of tendon and periosteal reflexes;
  • the appearance of pathological foot signs (symptom of Babinsky, Rossolimo, Openheim, etc.).

Peripheral motor neurons are localized in the nuclei of the cranial nerves, in thickenings of the spinal cord at the cervical, thoracic and lumbosacral levels in its anterior horns. That is, in any case, below the cortical motor neurons. When these nerve cells are damaged, symptoms of peripheral (flaccid) paralysis occur:

  • weakness in the muscles innervated by this group of cells;
  • decreased tendon and periosteal reflexes;
  • the appearance of muscle hypotension;
  • development of atrophic changes in the muscles due to their denervation;
  • pathological symptoms are absent.

In ALS, damage occurs as peripheral, and central motor neurons, which causes the appearance of signs of central and peripheral paralysis in this pathology.

The bulbar palsy that develops in Lou Gehrig's disease occurs due to the degeneration of neurons located in the nuclei of the IX, X, XII pairs of cranial nerves. These structures are located in the brainstem, namely in the medulla oblongata (from Latin bulbus). This syndrome is manifested by weakness in the muscles of the pharynx, larynx, tongue and soft palate. From here follow its main symptoms:

  • dysarthria (impaired articulation due to weakness and atrophy of the muscles of the tongue);
  • dysphonia (violation of voice formation) and nasalia (nasal tone of voice);
  • dysphagia (swallowing disorder);
  • sagging of the soft palate and displacement of the tongue to the healthy side;
  • loss (absence) of the pharyngeal reflex;
  • salivation (occurs as a result of swallowing disorders);
  • fibrillar twitching in the tongue (revealed as a small muscle contraction, fluttering).

Pseudobulbar palsy, which includes almost all of these symptoms, develops due to a bilateral violation of the structure of the cortico-bulbar tracts (that is, the nerve fibers that connect the cerebral cortex with the bulbar group of cranial nerve nuclei). The hallmark of this syndrome is:

  • preservation of the pharyngeal reflex;
  • lack of atrophy and fibrillation in the tongue;
  • increased mandibular reflex;
  • the appearance of pathological reflexes of oral automatism (they are considered normal for childhood - proboscis, sucking, etc.);
  • violent (involuntary) crying and laughter.

Considering that degeneration of both upper (central) and lower (peripheral) motor neurons occurs in amyotrophic lateral sclerosis, bulbar palsy is very often combined with pseudobulbar palsy. In some forms of ALS, these syndromes may be the only manifestation of the disease, the rest simply do not have time to develop, as the phenomena of respiratory failure increase very quickly.

What are the causes and mechanisms of the development of the disease?

Reliable reasons for the development of the sporadic form of Charcot's disease have not yet been established. Many researchers believe that the development of ALS is provoked by “slow” infections: enteroviruses, ECHO virus, Coxsackie, retroviruses, HIV.

The virus destroys the normal DNA structure of motor neurons, provoking the acceleration of their death (apoptosis). This is accompanied by the development of excitotoxicity - an excess of glutamate leads to overexcitation and death of motor neurons. Surviving cells can spontaneously depolarize, which is clinically manifested by fibrillations and fasciculations.

There is also a pathological effect on neurons autoimmune reactions(IgG disrupts the functioning of L-type calcium channels), a change in the normal aerobic metabolism in them, an increase in the transmembrane current of sodium and calcium ions into cells, a violation of the activity of cell wall enzymes and the destruction of its structural proteins and lipids.

At the Johns Hopkins University of Baltimore, four-stranded DNA and RNA were identified in the motor neurons of ALS patients. This led to the appearance of the ubiquitin protein in the cytoplasm of neurons, or rather its aggregates, which are normally located in the nucleus. This change also accelerates neurodegeneration in amyotrophic lateral sclerosis.

Hereditary (familial) ALS is associated with a mutation of a gene located on the 21st chromosome and encoding superoxide mutase-1. The disease is transmitted in an autosomal dominant manner.

Pathological examination reveals atrophy of the motor cortex (precentral gyri) of the cerebral hemispheres, anterior horns of the spinal cord, and motor nuclei of the bulbar group of cranial nerves. In this case, the dead motor neurons are replaced by neuroglia. Not only the bodies of motor neurons are affected, but also their processes - there is demyelination (that is, destruction of the normal myelin sheath of axons) of the pyramidal pathways in the brain stem and lateral cords of the spinal cord.

Amyotrophic lateral sclerosis: symptoms

The early symptoms of Lou Gehrig's disease in most cases are slowly increasing weakness in the arms or legs. In this case, the distal extremities - feet and hands - are more affected. The patient cannot fasten buttons, tie shoelaces, begins to stumble, tuck legs. Such awkwardness is accompanied by external exhaustion (weight loss) of the limbs.

Most often the symptoms asymmetrical. With careful observation of the patient in the affected limbs, one can detect fasciculations- muscle twitching, resembling a wave, slight fluttering.

Many patients in the initial period of the disease experience problems associated with weakness of the neck muscles that support the head in an upright position. That's why head keeps hanging and patients need special devices to hold it.

The disease is steadily progressing and gradually the pathological process covers more and more large arrays of muscles. Against the background of the development of peripheral paralysis, symptoms of the central one join:

  • hypertonicity and spasticity in the muscles,
  • tendon and periosteal reflexes are enhanced,
  • pathological foot and hand reflexes occur.

Very slowly, patients with amyotrophic lateral sclerosis completely lose the ability to move independently and serve themselves.

Along with this, the patient notes swallowing disorder, speech difficulty, voice change and other symptoms of bulbar paralysis, which is usually combined with pseudobulbar.

Gradually, the pathological process affects the respiratory muscles - the defeat of the diaphragm is of the greatest importance. As a result, there is a phenomenon paradoxical breathing: on inhalation, the stomach of patients suffering from ALS sinks, and on exhalation, on the contrary, protrudes.

Oculomotor disorders(gaze paresis, impaired eyeball movements, etc.) if they occur, then only at the terminal stage of motor neuron disease. Changes in sensitivity are not characteristic of this disease, although some patients complain of incomprehensible discomfort and pain.

Also, amyotrophic lateral sclerosis is not characterized by disorders functions of the pelvic organs. But at the end of the disease, incontinence or retention of urine and stool is possible.

Patients usually remain sane and with a clear memory until the end of their days, which further darkens their condition. Therefore, severe depressive disorders often occur. Only in 10-11% of cases of familial ALS, dementia is observed, associated with diffuse atrophy of the cortex of the frontal lobes.

What forms does motor neuron disease take?

The modern classification of amyotrophic lateral sclerosis distinguishes 4 main forms:

  • high (cerebral);
  • bulbar;
  • cervicothoracic;
  • lumbosacral.

Such a division is rather arbitrary, since over time, motor neurons are damaged at all levels. Rather, it is necessary to establish the prognosis of the disease.

High (cerebral) form

High (cerebral) form ALS develops in 2–3% of cases and is accompanied by damage to the neurons of the motor cortex (precentral gyrus) of the frontal lobe. With this pathology, spastic tetraparesis occurs (that is, both arms and legs are affected), which are combined with pseudobulbar syndrome. Symptoms of neurodegenerative changes in peripheral motor neurons are practically not manifested.

bulbar form

bulbar form, occurring in a quarter of all cases of ALS, is expressed in the defeat of the nuclei of the cranial nerves (IX, X, XII pairs) located in the brain stem. This form of the disease is manifested by bulbar paralysis (dysphagia, dysphonia, dysarthria), which, with the progression of the pathology, is combined with atrophy of the muscles of the extremities and fasciculations in them, central paralysis. Often, bulbar disorders are accompanied by pseudobulbar syndrome (increased mandibular reflex, the occurrence of spontaneous violent laughter or crying, reflexes of oral automatism).

cervicothoracic the form

The most common (about 50% of cases) form of motor neuron disease is cervicothoracic. In which symptoms of peripheral paralysis first develop in the hands (muscle atrophy, decrease or loss of tendon and periosteal reflexes, decreased muscle tone) and spastic paralysis in the legs. Then, with an “increase” in the level of neuronal damage, symptoms of central plegia in the hands (development of spasticity, revival of reflexes, carpal pathological phenomena) join.

lumbosacral shape

lumbosacral shape ALS occurs in 20–25% of cases and manifests as flaccid (peripheral) paralysis of the lower extremities. Progressing, the disease spreads to the overlying muscle masses (torso, arms) and attaches signs of spastic (central) paralysis - hypertonicity in the muscles, increased reflexes, the appearance of pathological foot signs.

How is the diagnosis of amyotrophic lateral sclerosis confirmed?

Diagnosis of this rare pathology is of great importance, since there are a number of diseases that mimic amyotrophic lateral sclerosis, but many of them are curable. The most striking signs of Charcot's disease: damage to the central and peripheral motor neurons - occur already in the terminal stages of the disease. Therefore, a reliable diagnosis of ALS is based on the exclusion of other pathologies of the nervous system.

In Europe and America, the El Escorian criteria for the diagnosis of ALS, developed by the International Federation of Neurologists, are used. These include:

  • reliable clinical signs of damage to the central motor neuron;
  • clinical, electroneuromyographic and pathomorphological signs of neurodegeneration of the peripheral motor neuron;
  • the steady progression and spread of symptoms within one or more areas of innervation, detected during dynamic monitoring of the patient.

It is also important to exclude other pathologies that can lead to the development of such symptoms.

So, for the diagnosis of amyotrophic lateral sclerosis, the following examination methods are used:

  • examination and questioning of the patient(anamnesis of life and illness). On examination, attention is paid to a combination of signs of peripheral and central paralysis, affecting at least two or three areas of the body (upper and lower limbs, bulbar muscles); simultaneous presence of symptoms of bulbar and pseudobulbar paralysis; absence of pelvic and oculomotor disorders, visual and sensory disturbances, preservation of intellectual-mnestic functions;
  • clinical analysis of blood and urine;
  • blood chemistry(CPK, C-reactive protein, electrolyte levels in the blood, kidney tests, liver tests, etc.) - with ALS, an increase in the level of CPK, indicators of liver tests is often observed;
  • determination of the level of certain hormones in the blood(for example, thyroid hormones);
  • study of the composition of the cerebrospinal fluid(cerebrospinal fluid) - in some patients with ALS (25%), there is an increase in the protein content in the cerebrospinal fluid;
  • needle electroneuromyography(ENMG) - in patients suffering from amyotrophic lateral sclerosis, the “palisade rhythm” (rhythmic fibrillation potentials) is determined, signs of damage to the anterior horns of the spinal cord in the complete absence of disturbances in conduction along nerve fibers;
  • neuroimaging study - MRI the brain and spinal cord in such patients reveals atrophy of the cortex of the precentral gyrus, thinning of the lateral cords and a decrease in the size of the anterior horns of the spinal cord;
  • muscle and nerve biopsy followed by histological examination- reveals signs of atrophic and denervation changes;
  • molecular genetic testing- justified in cases of suspected familial nature of ALS - a mutation in the 21st chromosome is determined.

It is necessary to perform a whole series of examinations in order to reliably exclude curable diseases. Since the approach to therapy and the outcome of the disease will be completely different.

The disease amyotrophic lateral sclerosis symptoms are quite severe, difficult to correct.

Currently, there is only one drug in the world that can slow the progression of the disease and delay the onset of respiratory failure in patients with amyotrophic lateral sclerosis. it riluzole(Rilutek), developed in 1995. Its mechanism of action is associated with the suppression of the release of the neurotransmitter glutamate from nerve endings. Thus, the rate of degeneration of motor neurons decreases. Such therapy prolongs the life of patients by a maximum of three months.

In the CIS countries, this drug has not yet been registered, although it has long been used in Europe and America.

Since there is no way to influence the etiological factor in the development of the disease, patients need care and symptomatic treatment:

  • in the early stages of the disease (before the development of spastic changes in the muscles), physiotherapy exercises and massage are performed;
  • for movement, patients use canes, special chairs, equipped with buttons for ease of use;
  • when hanging the head, use the Shants collar, special rigid or semi-rigid holders;
  • when the first signs of swallowing disorders appear, it is advisable to change the consistency of food to puree and liquid. After each meal, sanitation of the oral cavity is necessary. When it is difficult to receive liquid food, they switch to tube feeding (through a nasogastric tube) or impose a gastrostomy (a hole in the skin in the stomach area through which food immediately enters the gastrointestinal tract);
  • with the development of convulsions in the calf muscles (crampy), carbamazepine, baclofen, magne B6, verapamil, diazepam are used;
  • when spasticity appears in the muscles, muscle relaxants are used - baclofen, tisalud, sirdalud, mydocalm;
  • with severe salivation, atropine, hyoscine are used, antidepressants (amitriptyline) are also effective;
  • with persistent pain, depression and sleep disturbance, tricyclic antidepressants (amitriptyline) and serotonin reuptake inhibitors (fluoxetine, sertraline) are recommended. Also, this group of drugs somewhat reduces the frequency of attacks of violent laughter or crying. Severe sleep disturbance requires the appointment of sleeping pills (zolpidem). With the ineffectiveness of antidepressants and analgesics, narcotic analgesics (morphine, tramadol) are used to relieve pain;
  • in case of respiratory failure in the early stages, it is possible to use auxiliary portable systems for non-invasive ventilation of the lungs. In the terminal stage of the disease, patients need constant use of stationary ventilation in the intensive care unit;
  • sometimes, to improve the nutrition of muscles and brain cells, neuroprotectors (gliatilin, cerebrolysin, ceraxon), antioxidants (mexipridol), vitamin E, B vitamins, L-carnitine (elkar), etc. are used, but many experts believe that the use of such therapy is unjustified and does not improve the condition of patients;
  • such patients also need special means of communication - laptops have been developed that can be controlled using eye movements;
  • the help of a psychologist is urgently needed for both the ALS patient and his relatives.

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