Symptomatic treatment of bass syndrome. Amyotrophic Lateral Sclerosis (ALS)

Lateral (lateral) amyotrophic sclerosis still bears the name ALS disease. Other names for this disease are also known - motor neuron disease, Charcot's disease, Motor neuron disease, Lou Gehrig's disease. What it is? This is an incurable degenerative disease of the central nervous system that progresses slowly, but it affects both the cerebral cortex and the spinal cord and nuclei of the cranial nerves. This ends with damage to motor neurons, paralysis and muscle atrophy.

As a result, from the failure of the respiratory muscles, or from infections of the respiratory tract, a fatal outcome occurs. ALS syndrome can also be observed, but this is a completely different disease.

Charcot first described this disease in 1869.

Causes of ALS disease

The cause of ALS is a mutation of some proteins (ubiquitin) with the appearance of intracellular aggregates. Family forms of the disease are observed in 5% of cases. Basically, people over the age of forty-sixty get sick with ALS, of which no more than 10% are carriers of the hereditary form, scientists still cannot explain the rest of the cases by the influence of any external influences - ecology, injuries, diseases and other factors.

Symptoms of the disease

Early symptoms of the disease are numbness and weakness in the limbs, as well as difficulty in speech, but such signs apply to a large number of diseases. This makes it very difficult to diagnose until the final period, the disease is already moving into the stage of muscle atrophy.

The most famous ALS patient: Stephen Hawking loves black holes and TV

Initial lesions of ALS can occur in various parts of the body, with up to 75% of patients the disease begins in the extremities, mainly the lower ones. What it is? There is difficulty in walking, the patient begins to stumble, there is inflexibility in the ankle. With the defeat of the upper limbs, the flexibility of the fingers and strength in the hands are lost.

ALS may present (bulbar form), which progresses to difficulty swallowing in the next stage.

Wherever they appear first signs of ALS, muscle weakness is gradually transferred to larger parts of the body, although with the bulbar form of ALS, patients may not survive to complete paresis of the limbs, due to respiratory arrest.

Over time, the patient loses the ability to move independently. ALS disease does not affect mental development, however, most often, a deep depression begins - a person expects death. At the final stages of the disease, the muscles that perform the respiratory function are also affected, and the life of patients must be supported by artificial ventilation of the lungs and artificial nutrition. It takes 3-5 years from the observation of the first signs of ALS to death. However, cases are widely known when the condition of patients with unequivocally recognized ALS disease stabilized over time.

WHO HAS ALS?

There are more than 350,000 ALS patients in the world.

• per year per 100,000 people diagnosed with ALS in 5-7 people. more than 5,600 Americans are diagnosed with ALS each year. That's 15 new cases of Bass per day
• ALS can affect anyone. Incidence rate (number of new) ALS – 100,000 people per year
• Less than 10% of ALS cases are hereditary ALS can affect both men and women ALS affects all ethnic and socioeconomic groups
• ALS can affect young or very old adults, but is most often diagnosed in middle and late adulthood.
• People with ALS require expensive equipment, treatment and constant 24/7 care
• 90% of the burden of care falls on the shoulders of family members of ALS patients. ALS leads to possible depletion of physical, emotional and financial resources There are more than 8,500 ALS patients in Russia and more than 600 ALS patients in Moscow, although this number is officially constantly underestimated. The most famous Russians with ALS are Dmitry Shostakovich, Vladimir Migulya.

The causes of the disease are unknown. There is no cure for ALS. There was a slowdown in the course of the disease. Life extension is possible with the help of a home ventilator.

A mysterious neurological disease is amyotrophic lateral or lateral sclerosis, the accepted abbreviation of which ALS is a motor neuronal money-energy disease. In domestic literature, it can be found under the name of Charcot's disease (Charcot-Kozhevnikov), English-language sources are full of another name - Lou Gering's disease. Other synonyms for the definition of this ailment:

• Muscular atrophy (constantly progressive).
• Hereditary motor neuron disease.
• Bulbar paralysis.

This disease is considered mysterious not because of the abundance of names, but because neither its causes are completely unclear, nor methods of treatment have been found.

Charcot's disease occurs at any age, boys and men are more often affected.

Short description

ALS is a disease of the central nervous system that progresses slowly, and develops due to damage to motor neurons. Motor neurons (otherwise motor neurons) are large nerve cells responsible for the delivery of a nerve impulse to the muscles, muscle tone and coordination of motor actions. Allocate:

1. α-neurons, which are responsible for the contraction of skeletal muscles.
2. Ɣ-neurons innervating stretch receptors.

These neurons are located both in the cerebral cortex (upper or central neurons) and in the spinal cord, namely its anterior horns and nuclei of cranial nerves. And they are called lower or peripheral motor neurons.

Damage to neurons causes paralysis, and then leads to atrophy of muscle fibers and death of the patient. Most often, the patient dies from the failure of the respiratory muscles and disruption of the heart. Less often - from a bacterial infection frolicking in the respiratory organs.

We can say that amyotrophic lateral sclerosis is a disease that turns the human body into its prison, and then into a killer. To prison - because with the loss of the ability to serve oneself, move and speak, a person does not lose the clarity of mind. Dementia is registered only in 1-2% of cases. In the killer - because the body loses the ability to make respiratory movements, consciousness fades from the lack of oxygen. The man is just suffocating.

Depending on which neurons begin to die first, the initial picture of the disease is slightly different.

Causes

ALS is the final chord of a whole series of general pathological reactions associated with known and unknown factors. In five cases out of a hundred, hereditary trends in the development of Charcot's disease are traced. In this situation, the development of the pathological process is associated with a mutation of a specific gene located on chromosome 21.

In other cases, the causes of the development of this disease are unknown (they are called sporadic, that is, single). In this case, unknown factors lead to the work of neurons in an enhanced mode, their depletion and death.

A significant role in the development of the disease is played by the system responsible for the production of glutamic acid.

It is called glutamotergic, and its increased activity leads to an excess of acid or its salt (glutamate). Excess glutamate causes neurons to overexcite and die. At the same time, the patient feels fibrillar twitches (rapid contractions of individual muscle fibers). Each such twitch is a sign of the death of one motor neuron in the spinal cord.

Muscle fibers that were actively contracting lost their innervation after the twitching ceased. That is, they will never shrink normally and eventually die. As a result, a person loses the ability to move, and eventually breathe.

Since the etiology of Lou Gering's disease has not been fully studied, the starting factors for triggering the mechanism of degeneration today are considered to be:

• Stress (prolonged or severe).
• Injuries.
• Diseases (infectious, hypovitaminosis).
• Excessive loads (psychophysical).
• Work with toxic objects, primarily with lead.
• environmental factors.
• Bad habits (especially smoking).
• Electric shock.
• Resection of the stomach.
• Pregnancy.
• Other factors (for example, scientists find correlations between pesticides and the development of ALS).

Scientists have identified a molecular genetic mechanism that triggers amyotrophic lateral sclerosis. It is associated with the mutation of some proteins. But how these mutations affect the pathological process is still unclear.

Classification

The classification feature for distinguishing different forms of pathology is the localization of the primary focus. At the moment, it is customary to distinguish 4 types:

• Cerebral form or high (the neurons of the cerebral cortex are the first to be affected).
• Bulbar form (the lesion begins with the cranial nerves).
• A form beginning in the cervical or thoracic region.
• Form with a debut in the lumbosacral zone.

If the disease debuts from the cervical zone, the patient is worried about the weakness of the upper limbs, the hands cease to obey, freezing in a position called the “monkey paw”. Almost half of all cases of the disease occur in this form.

If the classic develops from the lower spine, the legs suffer. About 20% of cases are lumbosacral amyotrophic lateral sclerosis.

With the bulbar form, the first symptoms of a speech disorder appear - "nasal". There is also a problem with swallowing, the muscles of the tongue atrophy. About a quarter of cases of the disease debut with a lesion of the glossopharyngeal nerve. And only about 2% of cases "starts from the head", that is, it proceeds in the cerebral form. The first signs of this form are involuntary laughter or unreasonable crying.

Some experts distinguish another form - diffuse, or polyneurotic. This is the most severe form, its symptoms reflect all the lesions of all previous groups.

In the sources of information, you can find such a definition as ALS syndrome. This disease does not apply to the defeat of motor neurons. Clinically similar manifestations can be caused by tick-borne encephalitis (), a number of proteinemias, or other ailments.

Clinical manifestations

Charcot's disease is rich in symptoms affecting the limbs, mimic muscles of the face, articulation apparatus, and pyramidal signs. A characteristic feature of ALS is the asymmetry of the lesion of the extremities.

The first symptoms of this pathology can be divided into three large groups:

1. Weakness of the muscles of the limbs (arms or legs with sagging foot), increased tendon reflexes.
2. Muscle twitches: fibrillar (individual fibers), fascial (fiber bundles).
3. Disorders of articulation, swallowing, impoverishment of facial expressions (bulbar symptoms).

Diagnosis at an early stage of the course of the disease is far from always carried out, since convulsions and muscle twitches, minor speech disorders are characteristic of many other ailments. But over time, the patient's condition worsens:

• Pronounced amyotrophies develop (malnutrition of muscle tissue caused by damage to a motor neuron).
• Such disorders predominate in the extensor muscles.
• Paresis of the extremities joins.

In such cases, all doubts are dispelled, and the doctor is almost 100% sure of the diagnosis.

In the initial stage:

1. The person gets tired quickly.
2. Significantly reduced body weight.
3. The sky is falling.
4. Patients complain of difficulty in breathing.
5. Inspiratory dyspnea develops (difficulty breathing).
6. Symptoms of depression appear.

The most striking symptoms of motor neuron pathology are as follows:

• Weakness (general and muscular).
• Atrophy.
• Strengthening of reflexes, development of pathological reflexes.
• Muscle spasms and spastic conditions.
• Hanging foot.
• Balance imbalance.
• Dysarthria, dysphagia.
• Respiratory disorders.
• Uncontrollable laughter and crying.
• depressive disorders.

Despite the fact that the intellect does not suffer in most patients, "confinement" in one's own body cannot but affect the patient's psyche.

A clear awareness of what is happening, the inevitability of the end and the lack of any effective therapy leads to depression, in some cases pronounced and requiring medical correction.

Diagnostics

ALS is a disease that is diagnosed by exclusion. This means that there are no methods that would allow to determine this pathology.

To establish the diagnosis, a number of studies (laboratory and instrumental) are carried out, which allow to exclude other pathologies with similar symptoms. And only when all diseases are excluded, the diagnosis of "Amyotrophic Lateral Sclerosis" is made. Sometimes with the prefix "sluggish" or indicating the form of pathology (cervical, bulbar, etc.).

The main diagnostic methods that are applicable in the case of ALS:

• Collection of anamnesis.
• Examination of the patient with the allocation of leading symptoms, pathological reflexes and conducting coordinating tests (both static and dynamic).
• Laboratory methods.
• Neuropsychological testing.
• Needle EMG (myography), MRI, CT.

Laboratory methods for diagnosing ALS include:

1. Blood test (general and blood biochemistry).
2. Statement of Wasserman's serological tests.
3. Determination of antibodies to HIV and others.
4. Liquor analysis.
5. Molecular genetic analysis to detect mutations in certain genes.

Instrumental methods and examination by a specialist make it possible to exclude pathologies with similar symptoms and determine whether bulbar symptoms are present, assess muscle tone and strength, and the quality of bulbar functions.

According to the rules approved by the International Association of Neurologists, in order to make such a diagnosis, several groups of signs must be detected. First, the clinical manifestations of damage to the central motor neuron. Secondly, similar manifestations of damage to the lower neurons, including taking into account electrophysiological data. And thirdly, the presence of progression of the lesion in a limited area or in several areas of innervation.

Usually, the decision to confirm such a diagnosis is made collectively.

Treatment

There is currently no adequate therapy for ALS. The main goal pursued by doctors today is to slow down the course of the pathological process, influence the symptoms of pathology and preserve the ability of patients to minimal physical activity and self-care. In the case of damage to the lumbar zone, it is even possible to maintain a stable quality of life. The rest of the therapy is symptomatic.

The only remedy that can reliably slow down Lou Gering's disease is the drug Riluzole. It reduces the release of glutamate, and thereby increases the lifespan of neurons, but not for long. This medicine can prolong the life of the patient by 1-3 months. It is prescribed for life, but only if it is reliably confirmed that it is amyotrophic lateral sclerosis that develops.

Reception of the drug Riluzol is carried out under the supervision of a physician. Every ten days of the year, a biochemical blood test is taken to monitor liver function.

Tried to treat this pathology and other methods:

• With the help of muscle relaxants.
• Immunomodulators.
• Means that fight convulsions.
• Antioxidants.
• Medicines for the treatment of parkinsonism.

But unfortunately, such treatment has no convincing positive results.

Relief

Palliative therapy, that is, treatment that alleviates the patient's condition and improves the quality of life, but does not help to heal the disease, is aimed at maintaining the metabolism in atrophying muscles. And first of all, levocarnitine preparations are prescribed. Antidepressants, tranquilizers, and other drugs may be prescribed to alleviate the patient's condition.

Abroad, the method of HAL-therapy (HAL-therapy) is used. This is a special robotic suit that is controlled by brain impulses. With his help:

1. Some motor functions are restored to a certain extent.
2. Reduced neuropathic pain.
3. The quality of human life improves.

But even this technique does not give a chance for healing a person. True, it slows down the development of the disease, which is not bad.

Stem cell therapy is considered a promising method in the treatment of such a terrible disease as amyotrophic lateral sclerosis. But this technique is controversial for ethical reasons, and today it is only at the stage of studying these cells. So the therapeutic significance of using stem cells for the treatment of this pathology is currently unknown.

As soon as amyotrophic lateral sclerosis began to develop, patients are advised to switch to wearing orthopedic shoes and get a cane.

This is necessary to facilitate movement and reduce the risk of injury, making it impossible to move freely.

Forecast

The prognosis for Charcot's disease is unfavorable. If the patient needs mechanical ventilation and tracheostomy, this is a sign of an imminent lethal outcome. Specialists do not recommend connecting a ventilator due to technical difficulties and possible complications, the first of which is pneumonia.

Approximately how much time is given to the patient:

1. The life span of a patient with a cerebral type of pathology is about 2–3 years.
2. Patients with the bulbar form live a little longer - about 3-4 years.
3. A little more time gives cervicothoracic lateral sclerosis - more than 5 years.
4. The duration of the disease at the debut of pathology in the lumbar region is about 2–3 years.

These times are approximate and may be longer or shorter. It depends on the characteristics of the patient's body and care for him. You can even find data on sick centenarians who have lived with this pathology for about a dozen years.

Amyotrophic lateral sclerosis is a chronic slowly progressive neurodegenerative disease of the central nervous system. It is characterized by damage to the central and peripheral motor neuron - the main participant in the conscious movements of a person. J. Charcot in 1869 was the first to describe this disease. Synonyms of the disease: motor motor neuron disease, motor neuron disease, Charcot's disease or Lou Gehrig's disease. ALS, like one of many other neurodegenerative diseases, progresses slowly and is difficult to treat.

Life expectancy after the onset of the pathological process averages 3 years. The prognosis of life depends on the form: in some variants of the course, life expectancy does not exceed two years. However, less than 10% of patients live longer than 7 years. There are cases of longevity in amyotrophic lateral sclerosis. So, the famous physicist and popularizer of science Stephen Hawking lived for 76 years: he lived with the disease for 50 years. Epidemiology: The disease affects 2-3 people per 1 million population in one year. The average age of the patient is from 30 to 50 years. Statistically, women get sick more often than men.

The disease begins secretly. The first signs appear when more than 50% of motor neurons are affected. Prior to this, the clinical picture proceeds latently. This makes diagnosis difficult. Patients turn to doctors already at the stage of the height of the disease, when swallowing or breathing is disturbed.

Amyotrophic lateral sclerosis does not have a well-established cause of development. Researchers tend to familial heredity as the main cause of the disease. So, hereditary forms are found in 5%. Of these five percent, more than 20% are associated with a mutation in the superoxide dismutase gene, which is located on chromosome 21. It also allowed scientists to create models of amyotrophic lateral sclerosis in experimental mice.

Other causes of the disease have also been identified. So, researchers from Baltimore have identified specific compounds in decaying cells - four-stranded DNA and RNA. The gene in which the mutation existed was previously known, but there was no information about its function. As a result of the mutation, pathological compounds bind to proteins that synthesize ribosomes, which disrupts the formation of new cellular proteins.

Another theory is related to the mutation of the FUS gene on chromosome 16. This mutation is associated with hereditary variants of amyotrophic lateral sclerosis.

Less explored theories and hypotheses:

1. Reduced immunity or disruption of its work. So, in amyotrophic lateral sclerosis, antibodies to own neurons are detected in the cerebrospinal fluid and blood plasma, which indicates an autoimmune nature.
2. Violation of the parathyroid glands.
3. Violation of the metabolism of neurotransmitters, in particular neurotransmitters involved in the glutamatergic system (excessive amount of glutamate, an excitatory neurotransmitter, causes overexcitation of neurons and their death).
4. A viral infection that selectively affects a motor neuron.

A US National Library of Medicine publication provides a statistical relationship between disease and agricultural pesticide poisoning.

The pathogenesis is based on the phenomenon of excitotoxicity. This is a pathological process that leads to the destruction of nerve cells under the influence of neurotransmitters that activate the NMDA and AMPA systems (glutamate receptors, the main excitatory mediator). Due to overexcitation, calcium accumulates inside the cell. The pathogenesis of the latter leads to an increase in oxidative processes and the release of a large amount of free radicals - unstable oxygen decay products that have a huge amount of energy. This causes oxidative stress, a major factor in neuronal damage.

Pathologically, under a microscope, destroyed cells of the anterior horns in the spinal cord are found - this is where the motor path passes. The highest degree of damage to nerve cells can be noted in the neck and in the lower region of the brainstem structures. Destruction is also observed in the precentral gyrus of the frontal regions. Amyotrophic lateral sclerosis, in addition to changes in motor neurons, is accompanied by demyelination - destruction of the myelin sheath in axons.

Clinical picture

The symptomatology of a group of diseases of the motor neuron depends on the segmental level of degeneration of nerve cells and the form. The following subtypes of ALS are divided depending on the localization of motor neuron degeneration:

• Cerebral or high.
• Neck and chest.
• Lumbosacral shape.
• Bulbar.

The initial symptoms of the cervical or chest form: the strength of the muscles of the upper limbs and the muscles of the upper shoulder girdle decreases. The appearance of pathological reflexes is noted, and physiological ones are enhanced (hyperreflexia). In parallel, paresis develops in the muscles of the lower extremities. The following syndromes are also characteristic of amyotrophic lateral sclerosis:

Bulbar.

The syndrome is accompanied by damage to the cranial nerves at the exit from the medulla oblongata, namely: the glossopharyngeal, hypoglossal and vagus nerves are affected. The name comes from the phrase bulbus cerebri.

This syndrome is accompanied by a violation of speech (dysarthria) and the act of swallowing (dysphagia) against the background of paresis or paralysis of the muscles of the tongue, pharynx and larynx. This is noticeable when people often choke on food, especially liquid foods. With rapid progression, bulbar syndrome is accompanied by a violation of the vital functions of respiration and heartbeat. Decreased voice power. He becomes quiet and lethargic. The voice may disappear completely (motor neuron disease bulbar form).

Over time, muscles atrophy, which does not occur with pseudobulbar palsy. This is the key difference between symptom complexes.

pseudobulbar syndrome.

This syndrome is characterized by the classic triad: swallowing disorder, speech disorder and decreased sonority of the voice. Unlike the previous syndrome, with pseudobulbar there is a uniform and symmetrical paresis of the facial muscles. Psychoneurological disorders are also characteristic: the patient is tormented by violent laughter and crying. The manifestation of these emotions does not depend on the situation.

The first symptoms of amyotrophic lateral sclerosis are mainly of lumbar localization: the strength of the skeletal muscles of the lower extremities is weakened asymmetrically, tendon reflexes disappear. Later, the clinical picture is supplemented by paresis of the muscles of the hands. At the end of the disease, there is a violation of swallowing and speech. Body weight is gradually reduced. In the later stages of amyotrophic lateral sclerosis, the respiratory muscles are affected, making it difficult for patients to breathe. Ultimately, mechanical ventilation is used to sustain life.

Upper motor neuron disease (high or cerebral form) is characterized by degeneration of motor neurons in the precentral gyrus of the frontal lobe, motor neurons of the corticospinal and corticobulbar tracts are also damaged. The clinical picture of the violation of the upper motor neuron is characterized by double paresis of the arms or legs.

Generalized motor neuron disease or diffuse debut of motor neuron disease begins with common non-specific signs: weight loss, impaired breathing and weakening of the muscles of the arms or legs on one side, for example, hemiparesis (decrease in muscle strength in the arm and leg on one side of the body).

How does amyotrophic lateral sclerosis begin in general:

• convulsions;
• twitching;
• developing muscle weakness;
• difficulties in pronunciation.

Progressive bulbar palsy

This is a secondary disorder that occurs against the background of ALS. Pathology is manifested by classic symptoms: impaired swallowing, speech and voice. Speech becomes slurred, patients pronounce sounds indistinctly, nasality and hoarseness appear.

On physical examination, patients usually have an open mouth, no facial expressions, food may fall out of the mouth when swallowing, and liquid enters the nasal cavity. The muscles of the tongue atrophy, it becomes uneven and folded.

progressive muscular atrophy

This form of ALS is first manifested by muscle twitches, focal convulsions and fasciculations - spontaneous and synchronous contractions of one muscle bundle visible to the eye. Later, degeneration of the lower motor neuron leads to paresis and atrophy of the muscles of the hands. On average, patients with progressive muscular atrophy live up to 10 years from the time of diagnosis.

The clinical picture develops within 2-3 years. It is characterized by such symptoms:

• increased tone of the muscles of the lower extremities;
• in patients, walking is disturbed: they often stumble and it is difficult for them to maintain balance;
• upset voice, speech and swallowing;
• towards the end of the disease there are difficulties in breathing.

Primary lateral sclerosis is one of the rarest forms. Out of 100% of patients with motor neuron disease, no more than 0.5% of people suffer from lateral sclerosis. Life expectancy depends on the progression of the disease. So, people with PLS can live the average life expectancy of healthy people if PLS ​​does not turn into amyotrophic lateral sclerosis.

How is the disease detected?

The diagnostic problem lies in the fact that many other neurodegenerative pathologies have similar symptoms. That is, the diagnosis is made by the method of exclusion by differential diagnosis.

International Federation of Neurology developed criteria for diagnosing the disease:

1. The clinical picture includes signs of damage to the central motor neuron.
2. The clinical picture includes signs of damage to the peripheral motor neuron.
3. The disease progresses in several areas of the body.

The key diagnostic method is electromyography. The disease with this method is:

• Reliable. Pathology falls under the criterion of "reliable" if electromyography shows signs of damage to the PMN and CMN, lesions of the nerves of the medulla oblongata and other parts of the spinal cord are also observed.
• clinically likely. This is set if there is a combination of symptoms of damage to the central and peripheral motor neurons at no more than three levels, for example, at the level of the neck and lower back.
• Possible. Pathology falls under this column if there are signs of damage to the central or peripheral motor neurons at one of the 4 levels, for example, only at the level of the cervical spinal cord.

Airlie House identified the following myographic criteria for ALS:

1. There are symptoms of chronic or acute motor neuron degeneration. There are functional disorders of the muscle, such as fasciculations.
2. The speed of the nerve impulse is reduced by more than 10%.

Currently, the classification developed by the International Federation of Neurology is more often used.

In the diagnosis, secondary instrumental research methods also play a role:

1. Magnetic resonance and computer. MRI signs of ALS: layer-by-layer images show an increase in the signal in the region of the internal capsule of the brain. MRI also shows degeneration of the pyramidal tracts.
2. Blood chemistry. In laboratory parameters, there is an increase in creatine phosphokinase by 2-3 times. It also increases the level of liver enzymes: alanine aminotransferase, lactate dehydrogenase and aspartate aminotransferase.

How is it treated

Treatment prospects are poor. The disease itself cannot be cured. The main link is symptomatic therapy aimed at alleviating the patient's condition. Physicians have the following goals:

• Slow down the development and progression of the disease.
• Extend the life of the patient.
• Retain the ability to self-service.
• Reduce the manifestations of the clinical picture.

Usually, with suspicion or a confirmed diagnosis, patients are hospitalized. The standard of care for the disease is Riluzole. Its action: Riluzole inhibits the release of excitatory neurotransmitters into the synaptic cleft, which slows down the destruction of nerve cells. This drug is recommended for use by the International Federation of Neurology.

Symptoms are managed with palliative care. Recommendations:

1. To reduce the severity of fasciculations, Carbamazepine is prescribed at a dose of 300 mg per day. Analogues: preparations based on magnesium or phenytoin.
2. Muscle relaxants can help reduce stiffness or muscle tone. Representatives: Mydocalm, Tizanidin.
3. After a person has learned about his diagnosis, he may develop a depressive syndrome. To eliminate it, Fluoxetine or Amitriptyline is recommended.

Non-drug therapy:

• To develop muscles and maintain their tone, regular exercise and cardio training are shown. Workouts in the gym or swimming in a warm pool are suitable.
• In case of bulbar and pseudobulbar disorders in communication with other people, it is recommended to use concise speech constructions.

The prognosis for life is unfavorable. On average, patients live 3-4 years. With less aggressive forms, life expectancy reaches 10 years. Rehabilitation through regular exercise helps keep muscles strong and toned, maintain joint mobility, and eliminate breathing problems.

Prevention: for diseases of the motor motor neuron, while the cause of the disease is unknown, there is no specific prevention. Non-specific prevention consists in maintaining a healthy lifestyle and giving up bad habits.

Nutrition

Proper nutrition in amyotrophic lateral sclerosis is due to the fact that the disease disrupts the act of swallowing. The patient needs to select a diet and foods that are easy to digest and swallow.

Nutrition in amyotrophic lateral sclerosis consists of semi-solid and homogeneous foods. It is recommended to include mashed potatoes, soufflé and liquid cereals in the diet.

amyotrophic lateral sclerosis(ALS, or “Charcot's disease”, or “Hehrig's disease”, or “motor neuron disease”) is an idiopathic neurodegenerative progressive disease of unknown etiology, caused by selective damage to the peripheral motor neurons of the anterior horns of the spinal cord and the motor nuclei of the brainstem, as well as cortical ( central) motor neurons and lateral columns of the spinal cord.

The disease is manifested by steadily increasing paresis (weakness), muscle atrophy, fasciculations (rapid, irregular contractions of muscle fiber bundles) and pyramidal syndrome (hyperreflexia, spasticity, pathological signs) in the bulbar muscles and muscles of the extremities. The predominance of the bulbar form of the disease with atrophy and fasciculations in the muscles of the tongue and speech and swallowing disorders usually leads to a more rapid increase in symptoms and death. In the extremities, atrophic paresis in the distal sections predominates, in particular, atrophic paresis of the muscles of the hand is characteristic. Weakness in the hands increases and spreads with the involvement of the muscles of the forearms, shoulder girdle and legs, and the development of both peripheral and central spastic paresis is characteristic. In most cases, progression of the disease is observed within 2-3 years with the involvement of all limbs and bulbar muscles.

Diagnosis of amyotrophic lateral sclerosis is based on a thorough analysis of the clinical picture of the disease and is confirmed by an electromyographic study.

There is no effective treatment for the disease. Its basis is symptomatic therapy.

The progression of movement disorders ends in death after a few (2-6) years. Sometimes the disease has an acute course.

ALS-plus syndromes are distinguished as a separate variant of ALS, which include:

• ALS associated with frontotemporal dementia. It is most often familial and accounts for 5-10% of cases.
• ALS, combined with frontal dementia and parkinsonism, and associated with a mutation of the 17th chromosome.

• Epidemiology

  Amyotrophic lateral sclerosis makes its debut at the age of 40-60 years. The mean age of onset was 56 years. ALS is a disease of adults and does not occur in persons under 16 years of age. Men get sick a little more often (the relation of the man-woman 1,6-3.0: 1).

  ALS is a sporadic disease with an incidence of 1.5-5 cases per 100,000 population. In 5-10% of cases, amyotrophic lateral sclerosis has a family character (it is transmitted in an autosomal dominant manner).

• Classification

  According to the predominant localization of the lesion of various muscle groups, the following forms of amyotrophic lateral sclerosis are distinguished:

  • Cervical-thoracic form (50% of cases).
  • Bulbar form (25% of cases).
  • Lumbosacral form (20 - 25% of cases).
  • High (cerebral) form (1 - 2%).

• ICD code G12.2 Motor neuron disease.

Diagnostics

Diagnosis of amyotrophic lateral sclerosis is primarily based on a thorough analysis of the clinical picture of the disease. An EMG study (electromyography) confirms the diagnosis of motor neuron disease.

• When to Suspect ALS
  • Amyotrophic lateral sclerosis should be suspected in the development of weakness and atrophy, and possibly fasciculations (muscle twitches) in the muscles of the hand, in particular, when the thenar muscles of one of the hands are thinning with the development of weakness of adduction (adduction) and opposition of the thumb (usually asymmetrically). At the same time, there is difficulty in grasping with the thumb and forefinger, difficulty in picking up small objects, in fastening buttons, and in writing.
  • With the development of weakness in the proximal arms and shoulder girdle, atrophy in the muscles of the legs in combination with lower spastic paraparesis.
  • With the development of the patient's dysarthria (speech disorders) and dysphagia (swallowing disorders).
  • When a patient develops cramps (painful muscle contractions).

• ALS Diagnosis Criteria of the World Federation of Neurologists (1998)
  • Defeat (degeneration) of the lower motor neuron, proven clinically, electrophysiologically or morphologically.
  • Damage (degeneration) of the upper motor neuron according to the clinical picture.
  • The progressive development of subjective and objective signs of the disease at one level of damage to the central nervous system or their spread to other levels, determined according to the anamnesis or examination.

  At the same time, it is necessary to exclude other possible causes of degeneration of the lower and upper motor neurons.

• ALS diagnostic categories
  • Clinically significant ALS is diagnosed:
    • If there are clinical signs of damage to the upper motor neuron (for example, spastic paraparesis) and lower motor neuron at the bulbar and at least two spinal levels (damage to the arms, legs), or
    • In the presence of clinical signs of damage to the upper motor neuron at two spinal levels and the lower motor neuron at three spinal levels.
  • Clinically probable ALS is diagnosed by:
    • When the upper and lower motor neurons are affected at least at two levels of the central nervous system, and
    • If there are symptoms of an upper motor neuron lesion above the levels of a lower motor neuron lesion.
  • Possible ALS:
    • Lower motor neuron symptoms plus upper motor neuron symptoms in 1 region of the body, or
    • Upper motor neuron symptoms in 2 or 3 regions of the body, such as monomelic ALS (ALS manifestations in one limb), progressive bulbar palsy.
  • Suspicion of ALS:
    • If there are symptoms of damage to the lower motor neuron in 2 or 3 regions, such as progressive muscle atrophy or other motor symptoms.

  In this case, the regions of the body are divided into oral-facial, brachial, crural, thoracic and trunk.

• Diagnosis of ALS is Confirmed by Signs (ALS Confirmation Criteria)
  • Fasciculations in one or more areas.
  • A combination of signs of bulbar and pseudobulbar paralysis.
  • Rapid progression with the development of death within a few years.
  • The absence of oculomotor, pelvic, visual disturbances, loss of sensitivity.
  • Non-myotomous distribution of muscle weakness. For example, the simultaneous development of weakness in the biceps of the shoulder and the deltoid muscle. Both are innervated by the same spinal segment, albeit by different motor nerves.
  • The absence of signs of simultaneous damage to the upper and lower motor neurons in one spinal segment.
  • Non-regional distribution of muscle weakness. For example, if paresis first develops in the right arm, usually the right leg or left arm is later involved in the process, but not the left leg.
  • Unusual course of the disease over time. ALS is not characterized by an onset before the age of 35, a duration of more than 5 years, the absence of bulbar disorders after one year of illness, and indications of remission.

• ALS exclusion criteria

  For the diagnosis of amyotrophic lateral sclerosis, the absence of:

  • Sensory disorders, primarily loss of sensitivity. Paresthesia and pain are possible.
  • Pelvic disorders (impaired urination and defecation). Their accession is possible at the final stages of the disease.
  • visual disturbances.
  • Vegetative disorders.
  • Parkinson's disease.
  • Dementia of the Alzheimer's type.
  • ALS-like syndromes.

• Electromyographic study (EMG)

  EMG helps in confirming clinical data and findings. Characteristic changes and findings on EMG in ALS:

  • Fibrillations and fasciculations in the muscles of the upper and lower limbs, or in the limbs and head region.
  • Reducing the number of motor units and increasing the amplitude and duration of the action potential of motor units.
  • Normal conduction velocity in nerves innervating slightly affected muscles, and a decrease in conduction velocity in nerves innervating severely affected muscles (the velocity should be at least 70% of the normal value).
  • Normal electrical excitability and speed of impulse conduction along the fibers of sensory nerves.

• Differential diagnosis (ALS-like syndromes)
  • Spondylogenic cervical myelopathy.
  • Tumors of the craniovertebral region and spinal cord.
  • Craniovertebral anomalies.
  • Syringomyelia.
  • Subacute combined degeneration of the spinal cord with vitamin B12 deficiency.
  • Strümpel's familial spastic paraparesis.
  • Progressive spinal amyotrophies.
  • Post-polio syndrome.
  • Intoxication with lead, mercury, manganese.
  • Hexosaminidase type A deficiency in adults with GM2 gangliosidosis.
  • diabetic amyotrophy.
  • Multifocal motor neuropathy with conduction blocks.
  • Creutzfeldt-Jakob disease.
  • Paraneoplastic syndrome, in particular with lymphogranulomatosis and malignant lymphoma.
  • ALS syndrome with paraproteinemia.
  • Axonal neuropathy in Lyme disease (Lyme borreliosis).
  • radiation myopathy.
  • Guillain-Barré syndrome.
  • Myasthenia.
  • Multiple sclerosis.
  • ONMK.
  • Endocrinopathy (thyrotoxicosis, hyperparathyroidism, diabetic amyotrophy).
  • Malabsorption syndrome.
  • Benign fasciculations, i.e. fasciculations lasting for years without signs of damage to the motor system.
  • Neuroinfections (poliomyelitis, brucellosis, epidemic encephalitis, tick-borne encephalitis, neurosyphilis, Lyme disease).
  • Primary lateral sclerosis.

ALS syndrome (amyotrophic lateral sclerosis) is a rare neurological disease. According to statistics, the frequency of pathology is 3 people per 100 thousand. The formation of degenerative-dystrophic abnormalities is due to the death of nerve axons, through which impulses are transmitted to muscle cells. An abnormal process of destruction of neurons occurs in the cerebral cortex, the horns (anterior) of the spinal cord. Due to the lack of innervation, muscle contraction stops, atrophy, paresis develops.

Jean-Martin Charcot was the first to describe the disease, giving the name "lateral (lateral) amyotrophic sclerosis (ALS)." Based on the results of the study, he concluded that in most cases the etiology is sporadic. In 10% of patients, the cause was a hereditary predisposition. It develops mainly after 45 years, in women it is less common than in men. The second name - Lou Gehrig's syndrome - is common in English-speaking countries, an anomaly was assigned in honor of the famous baseball player, who ended his career in a wheelchair due to illness at the age of 35.

Classification and characteristic features

The classification of pathology depends on the location of the lesion. Two types of neurons are involved in motor activity: the main one, located in the cerebral hemispheres, and the peripheral one, located at different levels of the spinal column. The central one sends an impulse to the secondary one, and it, in turn, to the cells of the skeletal muscles. The appearance of ALS will differ depending on the center where transmission from motor neurons is blocked.

At an early stage of the clinical course, the signs are the same regardless of the type: spasms, numbness, muscle hypotension, weakness of the arms and legs. General symptoms include:

1. Episodic appearance of cramps (painful contractions) on the affected area.
2. The gradual spread of atrophy to all parts of the body.
3. Disorder of motor function.

Types of the disease proceed without loss of sensitive reflexes.

lumbosacral shape

It is a manifestation of myelopathy (destruction of the spinal cord), caused by the death of peripheral neurons located in the sacral spine (anterior horns). ALS syndrome is accompanied by symptoms:

1. Weakness of one, then both lower limbs.
2. Lack of tendon reflexes.
3. The formation of initial muscle atrophy, visually determined by a decrease in mass (“shrinkage”).
4. Wavy fasciculations.

The process involves the upper limbs with the same manifestations.

cervicothoracic form

The syndrome is characterized by the death of axons of secondary neurons located in the upper spine, leading to the manifestation of signs:

• decrease in tone in one hand, after a period of time the pathological process spreads to the second;
• muscle atrophy is noted, accompanied by paresis, fasciculation;
• the phalanges are deformed, acquiring the appearance of a "monkey brush";
• foot signs are manifested, characterized by a change in motor function, muscle atrophy is absent.

A symptom of a lesion of the cervical region is a constantly tilted forward head.

bulbar form

This type of syndrome is characterized by a severe clinical course, motoneurons die in the cerebral cortex. The life expectancy of patients with this form does not exceed five years. The debut is accompanied by:

• violation of articulatory function, speech apparatus;
• fixation of the tongue in a certain position, it is difficult for them to move, rhythmic twitching is noted;
• involuntary spasms of mimic muscles;
• swallowing dysfunction due to spasms in the esophagus.

The progression of amyotrophic lateral sclerosis of the bulbar type forms a complete atrophy of the facial and neck muscles. The patient cannot independently open his mouth for eating, communication capabilities are lost, the ability to clearly pronounce words. Increased gag and jaw reflex. Often the disease occurs against the background of involuntary laughter or lacrimation.

high shape

This type of ALS begins with damage to the central neurons, in the process of development it covers the peripheral ones. Patients with a high form of the syndrome do not live to the stage of paralysis, because the muscles of the heart and respiratory organs quickly die off, and abscesses form in the affected areas. A person cannot move independently, atrophy covers the entire skeletal muscles. Paresis leads to uncontrolled defecation and urination.

The condition is aggravated by the constant progression of the syndrome, in the terminal phase the respiratory act is impossible, ventilation of the lungs is required using a special apparatus.

Causes

The syndrome of amyotrophic lateral sclerosis in most cases proceeds with an uncertain genesis. In 10% of patients with this diagnosis, the cause of development was the transmission of a mutated gene from the previous generation in an autosomal dominant way. The etiology of the formation of the disease can be a number of factors:

1. Infectious lesion of the brain, spinal cord with a stable little-studied neurotropic virus.
2. Insufficient intake of vitamins (hypovitaminosis).
3. Pregnancy can provoke ALS syndrome in women.
4. Growth of cancer cells in the lungs.
5. Gastric bypass.
6. Chronic form of osteochondrosis of the cervical region.

The risk group includes people who are constantly in contact with concentrated chemicals, heavy metals (lead, mercury).

Diagnostic studies

The examination provides for the differentiation of ALS syndrome from ALS disease. Independent pathology proceeds without violation of internal organs, mental abilities, sensitive reflexes. For adequate treatment, it is necessary to exclude diseases with similar symptoms by diagnostics:

• spinal craniovertebral amyotrophies;
• residual effects of poliomyelitis;
• malignant lymphoma;
• paraproteinemia;
• endocrinopathy;
• cervical myelopathy with ALS syndrome.

Diagnostic measures to determine the disease include:

• chest x-ray;
• magnetic resonance imaging of the spinal cord, brain;
• electrocardiograms;
• electroneurography;
• studies of the level of functioning of the thyroid gland;
• cerebrospinal, lumbar puncture;
• genetic analysis to detect mutations;
• spirograms;
• laboratory study in the blood of protein, ESR, creatine phosphokinase, urea.

Effective Treatments

It is impossible to completely get rid of the disease, in Russia there is no patented drug that can stop the clinical development. In European countries, Riluzole is used to slow the spread of muscle atrophy. The task of the drug is to inhibit the production of glutamate, a high concentration of which damages brain neurons. Tests have shown that patients taking the drug live a little longer, but still die of respiratory failure.

The treatment is symptomatic, the main task of therapy is to maintain the quality of life, prolong the ability of self-care. In the process of development of the syndrome, the muscles of the organs responsible for the respiratory act are gradually affected. Oxygen deficiency is compensated by the BIPAP, IPPV apparatus used at night. The equipment facilitates the patient's condition, it is easy to use and used at home. After complete atrophy of the respiratory system, the patient is transferred to a stationary lung ventilation apparatus (NIVL).

Conservative treatment of symptoms contributes to:

1. Relief of seizures "Carbamazepine", "Tizanil", "Phenytoin", "Isoptin", "Baclofen", injection of quinine sulfate.
2. Normalization of metabolic processes in the muscle mass with anticholinesterase agents ("Berlition", "Espa-Lipon", "Glutoxim", Lipoic acid, "Cortexin", "Elkar", "Levocarnitine", "Prozerin", "Kalimin", "Pyridostigmine" " Milgamma", "Thiogamma", Vitamins of group B A, E, C).
3. Removal of fasciculations (Elenium, Sirdalud, Sibazon, Diazepam, Mydocalm, Baklosan).
4. Improvement of swallowing function ("Prozerin", "Galantamine").
5. Elimination of pain syndrome with the analgesic "Fluoxetine" with subsequent transfer of the patient to morphine.
6. Normalization of the amount of saliva secreted by Buscopan.
7. Increase muscle mass "Retabolil".
8. Removal of mental disorders with antidepressants (Paxil, Sertraline, Amitriptyline, Fluoxetine).

If necessary, antibiotic therapy is prescribed with the antibiotics Fluoroquinol, Cephalosporin, Carbapenem. Also, the course of treatment includes nootropic drugs: Nootropil, Piracetam, Cerebrolysin.

Patients with ALS syndrome need special devices to make life easier, including: