Lateral amyotrophic sclerosis. Amyotrophic lateral sclerosis: causes, symptoms, treatment

Neurological diseases of an autoimmune nature are especially dangerous for human health. Amyotrophic lateral sclerosis quickly chains a sick person to a wheelchair. The treatment of such diseases is difficult. For the specific treatment of the disease, modern medicine has developed only one active drug. After reading the article, you will learn about the disease and the drug that can help a person with ALS.

Causes of the disease

Amyotrophic lateral sclerosis is a chronic progressive disease of the nervous system that selectively affects the central and peripheral motor neurons. It is characterized by increasing weakness of every muscle in the patient's body. Motor neuron disease (ICB code 10 G12.2) affects a person of any age and gender.

The true origin of amyotrophic lateral sclerosis is unknown. Most studies point to the appearance of the disease due to the impact of several causes.

The theory of glutamate excitotoxicity states that L-glutamate and other neurotransmitters that are activated under increased calcium intake into the cell can lead to its programmed death (apoptosis).

There are theories confirming the autoimmune and partially viral nature of the disease. With enteroviruses and retroviruses, particles (antigens) foreign to the body provoke the production of antibodies to myelin by the human immune system. An alternative theory is the relationship of lateral sclerosis with a genetic defect in an autosomal dominant mode of inheritance.

General characteristics of the symptoms of amyotrophic lateral sclerosis

Symptoms of the disease can be divided into two groups.

Damage to peripheral motor neurons. At the beginning of the disease, the hands and feet weaken. Gradually, weakness completely spreads to the arms and legs, speech disorders appear. The peripheral neuron is located in the anterior horn of the spinal cord or the nuclei of the cranial nerves in the medulla oblongata. The patient can independently determine the muscle twitches (fasciculations). Over time, paresis of individual motor nerves occurs, and muscle mass decreases due to progressive atrophy. Most patients have asymmetric atrophy and paresis.
damage to the central motor neurons. On examination, the doctor can detect pathological reflexes and expansion of reflexogenic zones. Against the background of atrophic changes in the muscles, hypertonicity is determined. It is difficult for a patient to identify these symptoms on their own. The central neuron is located in the cerebral cortex and manifestations are associated with impaired inhibition of excitation of nerve cells.

In the later stages, lesions of peripheral neurons dominate. Hyperreflexia and pathological reflexes disappear, leaving only atrophied, paralyzed muscles. For a patient with lateral sclerosis, such signs reflect complete atrophy of the precentral gyrus of the brain. The impulse from the central neuron disappears, and conscious movements become impossible for a person.

A characteristic feature that accompanies amyotrophic lateral sclerosis is the preservation of deep and superficial sensitivity. A person feels pain, temperature, touch, pressure on the skin. At the same time, he cannot make active movements.

Forms of ALS

Taking into account the segmental structure of the nervous system, a classification was developed according to the form of the disease with the definition of areas with the greatest death of motor neurons.

The death of neurons in the lumbosacral segment is characterized by weakness in the lower extremities. Patients feel heaviness in the feet, cannot overcome the usual distances, notice a decrease in leg muscles during grasping. The doctor determines the appearance of unnatural reflexes (Babinsky's pathological extensor foot reflex), as well as an increase in reflexes from the Achilles and knee tendons.
The death of neurons in the cervicothoracic spinal cord is characterized by weakness in the muscles of the arms, a person cannot lift heavy objects, handwriting is distorted, fine motor skills of the fingers disappear, and the carporadial and tendon reflex of the biceps increase. When the neurons innervating the neck are damaged, it decreases in size, muscle wasting occurs, the patient cannot keep his head straight. Simultaneously with muscle atrophy, their spasm and increased tone occur. With the destruction of motor neurons from the thoracic region, atrophy of the intercostal and pectoral muscles occurs, paralysis of the diaphragm occurs, and the act of breathing is disturbed.
The death of bulbar neurons located in the brain stem is characterized by difficulty in swallowing food and speech disorder. The words of the patient become incomprehensible, the pronunciation is distorted, which is associated with weakness of the muscles of the tongue, prolapse of the soft palate and spasm of the masticatory muscles. The tension of the muscles of the pharynx makes it difficult to swallow food lumps, the food does not pass further than the oropharynx, getting into the respiratory tract, causes coughing. Facial muscles atrophy, there is a complete loss of facial expressions. With damage to the oculomotor nerves, the mobility of the eyes is completely lost, the person cannot look at objects, while the clarity of the image remains the same as it was before the disease. The most severe form of lateral sclerosis.
The high form in lesions of the central motor neuron is rare in isolation. Spastic paralysis, hyperreflexia, and pathological reflexes occur in various muscle groups. There is atrophy of the precentral gyrus, which is responsible for conscious movements, and the patient will not be able to perform a targeted action.

Diagnosis of the disease using symptoms, laboratory and instrumental data

Diagnosis of amyotrophic lateral sclerosis is based on the use of data from the patient's clinical condition, laboratory and instrumental research methods.

Pathogenetic and symptomatic treatment

Treatment of amyotrophic lateral sclerosis is based only on pathogenetic and symptomatic assistance to the patient. Riluzole is the evidence-based pathogenic drug of choice. The drug is used to slow the progression of ALS, significantly inhibits the death of motor neurons. The action of the drug is based on stopping the release of glutamate by nerve cells and reducing the degeneration of motor neurons, which occurs under the action of the amino acid. Riluzole is taken 100 g once a day with meals.

Patients, without exception, need dispensary observation with the control of these clinical manifestations of ALS and laboratory tests (the level of CPK, ALT, AST). Symptomatic therapy includes the use of anticonvulsants, vitamins, anabolic steroids, ATP, nootropics, the appointment of which is adjusted depending on the form of the disease.

Prognosis for a patient with ALS

The prognosis for the life of a patient with amyotrophic lateral sclerosis is unfavorable and is determined by the severity of bulbar and respiratory disorders. The disease lasts from two to ten years, the bulbar form leads the patient to death from paralysis of the respiratory center and exhaustion of the body in 1-2 years, even with the use of drug treatment.

The most famous patient with ALS is Stephen Hawking, a well-known physicist and author of several bestsellers. A vivid example of the fact that you can live with the disease and you can’t give up.

Participate in the discussion of the topic, leave your opinions in the comments.

Amyotrophic Lateral Sclerosis is a serious neurological disease that causes muscle weakness, disability, and eventually death. ALS is often referred to as Lou Gehrig's disease, after the famous baseball player who was diagnosed in 1939. In some countries, ALS and motor neuron diseases are sometimes used interchangeably.

Worldwide, ALS occurs in 1-3 people per 100,000. In the vast majority of cases - from 90 to 95 percent of cases of this disease, doctors cannot explain the cause of this disease. Only in 5-10 percent of cases there is a genetic determinism. ALS often begins with muscle cramps in an arm or leg and speech impairment. Ultimately, ALS impairs control of the muscles responsible for swallowing breathing movements.

Symptoms

Early symptoms of ALS include:

Difficulty lifting the forefoot and toes (foot drop)
Muscle weakness in the leg, foot, or ankle
Weakness in the hands and impaired fine motor skills of the hands
Speech or swallowing problems
Muscle cramps and twitches (fibrillations) in the arms, shoulders, and tongue

The disease often starts in the hands, feet, or limbs and then spreads to other parts of the body. With the debut of the disease, the symptoms begin to progress, the muscles become weaker and then paralysis occurs. Ultimately, there is a violation of the acts of chewing, swallowing and breathing.

The reasons

In amyotrophic lateral sclerosis, the nerve cells that control movement (motor neurons) begin to gradually die, which leads to gradual muscle weakening and atrophy. ALS is inherited in 5-10 percent of cases. In other cases, ALS occurs, apparently spontaneously.
Several possible causes of ALS are currently being studied, including:

Gene mutation. Various genetic mutations can lead to hereditary forms of ALS.
biochemical disorders. Patients with ALS tend to have elevated levels of glutamate (a chemical neurotransmitter in the nervous system). As you know, an increased amount of this neurotransmitter has a toxic effect on some nerve cells.
Impaired immune response. Sometimes the human immune system begins to perceive its own cells as foreign and attacks them, which leads to the development of autoimmune reactions and damage to target cells. Such a mechanism for the occurrence of ALS is also possible.
The presence of abnormal proteins. The production of abnormal proteins and their further accumulation ultimately causes the death of nerve cells.

Risk factors

The main risk factors for ALS include:

Heredity. Up to 10 percent of patients inherit the condition from their parents. If parents have this disease, then the risk in children is 50%.
Age. ALS is most common in people between the ages of 40 and 60.
Floor. Men under the age of 65 are more likely to have this disease. The gender difference disappears after 70 years. It is possible that ALS, like other diseases, is caused by a combination of environmental factors in people who already have a genetic predisposition to the disease. For example, some studies examining the human genome have identified numerous genetic variations characteristic of ALS patients that may make a person more susceptible to the disease.

Environmental factors that increase the risk of this disease include:

Smoking. As it turned out, statistical data indicate that amyotrophic lateral sclerosis occurs 2 times more often in smokers than in non-smokers. The longer the duration of smoking, the greater the risk. On the other hand, quitting smoking may ultimately reduce this increased risk.
Lead intoxication. Some evidence suggests that exposure to lead during hazardous work may be associated with the development of ALS.
Military service. Recent studies show that people who have served in the military are at a higher risk of developing amyotrophic lateral sclerosis. What exactly is the provoking factor in people during military service (injury, physical activity, infection or exposure to harmful substances) is not known.

Complications

As the disease progresses, the following complications occur in patients with amyotrophic lateral sclerosis.

Respiratory failure. ALS eventually paralyzes the muscles involved in the act of breathing. To combat these disorders, devices are used that are used only at night in order to prevent sleep apnea (they create a constant positive airway pressure). In the terminal stages of ALS, a tracheotomy (a surgically created opening in the larynx) is used to ensure the connection of ventilators that carry out breathing.
The most common cause of death in patients with ALS is respiratory failure, which usually develops within three to five years of the onset of symptoms.
Eating disorders. When the muscles responsible for swallowing are involved in the process, hypotrophy and dehydration occur. It also increases the risk of aspiration of food fluids, which can cause pneumonia. Feeding through a tube reduces the risk of such complications.
Intellectual disorders. Some patients with ALS have problems with memory and decision making and are eventually diagnosed with frontotemporal dementia.

Diagnostics

If some of the early symptoms of neuromuscular disease appear, you should contact your doctor, who, if necessary, will refer you for a consultation with a neurologist. But even a timely appeal to a neurologist does not guarantee that the diagnosis will be made immediately, since it takes some time to verify the diagnosis. The neurologist will be interested in the medical history and neurological status.

reflexes
muscle strength
Muscle tone
touch and vision
Coordination

Amyotrophic lateral sclerosis is quite difficult to diagnose in the early stages, since the symptoms are similar to other neurological diseases. Of the diagnostic methods used are the following:

Electroneuromyography. This method allows you to measure the electrical potentials in the muscles and the conduction of the impulse along the nerve fibers and muscles. For myography, needle electrodes are inserted into the muscle, which allow recording electrical activity in the muscles, both at rest and during muscle contraction. Electroneurography allows you to explore the conduction of nerve fibers. For this test, electrodes are attached to the skin over the nerve or muscle to be examined. A small electric current is passed through the electrodes and the speed of the impulse is determined.
MRI. This method uses a powerful magnetic field and allows detailed visualization of various tissues, including nervous tissue.
Blood and urine tests. Laboratory testing of blood and urine samples can help your doctor rule out other possible causes of your symptoms.
Muscle biopsy. If a muscle disease is suspected, a muscle biopsy may be ordered. In this procedure, a piece of muscle tissue is taken, which is performed under local anesthesia. The tissue sample is then sent for testing.

Treatment

Due to the fact that the processes in amyotrophic lateral sclerosis cannot be reversed, treatment is aimed at slowing the progression of symptoms.

Medical treatment. Riluzole (RILUTEK) is the first and only drug approved to slow ALS. The drug has an inhibitory effect on the progression of the disease in some patients, possibly due to a decrease in the level of glutamate, a substance that is a mediator in the nervous system and the level of which is often elevated in patients with ALS. In addition, it is possible to prescribe other medications to reduce symptoms such as constipation, muscle cramps, fatigue, hypersalivation, pain, and depression.

exercise therapy. Physical exercise under the supervision of a physiotherapist allows you to maintain muscle strength and range of motion for a longer period of activity of the cardiovascular system and improve overall well-being.

The use of a walker or a wheelchair also allows you to maintain a certain range of motion.

Psychological help. Often, the help of a psychologist is required in connection with the patient's awareness of the incurability of the disease. Although in some cases life expectancy can exceed 3-5 years and reach 10 years.

Update: December 2018

Amyotrophic lateral sclerosis or Lou Gehrig's disease is a rapidly progressive disease of the nervous system characterized by damage to the motor neurons of the spinal cord, cortex and brain stem. Also, the motor branches of the cranial neurons (trigeminal, facial, glossopharyngeal) are involved in the pathological process.

Epidemiology of the disease

The disease is extremely rare, about 2-5 people per 100,000. It is believed that men over 50 years of age are more likely to get sick. Lou Gehrig's disease makes no exception for anyone, it affects people of different social status and various professions (actors, senators, Nobel Prize winners, engineers, teachers). The most famous patient was world baseball champion Loi Gering, after whom the disease got its name.

In Russia, amyotrophic lateral sclerosis is widespread. Currently, the number of sick people is approximately 15,000-20,000 among the population. Among the famous people of Russia who have this pathology, one can note the composer Dmitry Shostakovich, the politician Yuri Gladkov, the pop singer Vladimir Migulya.

Causes of amyotrophic lateral sclerosis

The disease is based on the accumulation of pathological insoluble protein in the motor cells of the nervous system, leading to their death. The cause of the disease is currently unknown, but there are many theories. The main theories include:

Viral - this theory was popular in the 60-70s of the 20th century, but has not been confirmed. Scientists from the USA and the USSR conducted experiments on monkeys, injecting them with extracts of the spinal cord of sick people. Other researchers have tried to prove participation in the formation of the disease.
Hereditary - in 10% of cases, the pathology is hereditary;
Autoimmune - this theory is based on the detection of specific antibodies that kill motor nerve cells. There are studies proving the formation of such antibodies against the background of other serious diseases (for example, with lung cancer or Hodgkin's lymphoma);
Genetic - in 20% of patients, violations of the genes encoding the very important enzyme Superoxide dismutase-1, which converts Superoxide toxic to nerve cells into oxygen, are found;
Neuronal - British scientists believe that glial elements, that is, cells that ensure the vital activity of neurons, are involved in the development of the disease. Studies have shown that with insufficient function of astrocytes, which remove glutamate from nerve endings, the likelihood of developing Lou Gehrig's disease increases tenfold.

Classification of amyotrophic lateral sclerosis:

Symptoms of amyotrophic lateral sclerosis

Any form of the disease has the same beginning: patients complain of increasing muscle weakness, a decrease in muscle mass and the appearance of fasciculations (muscle twitches).

Bulbar form of ALS characterized by symptoms of damage to the cranial nerves (9,10 and 12 pairs):

Speech, pronunciation worsens in patients, it becomes difficult to move the tongue.
Over time, the act of swallowing is disturbed, the patient constantly chokes, food can pour out through the nose.
Patients feel involuntary twitching of the tongue.
The progression of ALS is accompanied by complete atrophy of the muscles of the face and neck, patients have no facial expressions, they cannot open their mouths and chew food.

cervicothoracic variant The disease affects, first of all, the upper limbs of the patient, symmetrically on both sides:

At first, patients feel a deterioration in the functionality of the hands, it becomes harder to write, play musical instruments, and perform complex movements.
At the same time, the muscles of the arm are very tense, tendon reflexes are increased.
Over time, weakness spreads to the muscles of the forearm and shoulder, they atrophy. The upper limb resembles a dangling whip.

lumbosacral shape usually begins with a feeling of weakness in the lower extremities.

Patients complain that it has become harder for them to do the work, standing on their feet, walking long distances, climbing stairs.
Over time, the foot begins to sag, the muscles of the legs atrophy, patients cannot even stand on their feet.
Pathological tendon reflexes (Babinsky) appear. Patients develop urinary and fecal incontinence.

Regardless of which variant prevails in patients at the beginning of the disease, the outcome is still the same. The disease progresses steadily, spreading to all the muscles of the body, including the respiratory ones. When the respiratory muscles fail, the patient begins to need mechanical ventilation and constant care.

In my practice, I have seen two patients with ALS, a man and a woman. Distinguished by their red hair color and a relatively young age (up to 40 years). Outwardly, they were very similar: there is no hint of muscle, an amimic face, always ajar mouth.

Such patients die in most cases from concomitant diseases (pneumonia, sepsis). Even with proper care, they develop bedsores (see), hypostatic pneumonia. Realizing the severity of their disease, patients fall into depression, apathy, cease to be interested in the outside world and their loved ones.

Over time, the patient's psyche undergoes strong changes. The patient, whom I observed for a year, was characterized by capriciousness, emotional lability, aggressiveness, and intemperance. Conducting intellectual tests showed a decrease in his thinking, mental abilities, memory, attention.

Diagnosis of amyotrophic lateral sclerosis

The main diagnostic methods include:

MRI of the spinal cord and brain- the method is quite informative, reveals atrophy of the motor parts of the brain and degeneration of pyramidal structures;
cerebrospinal puncture- usually reveals a normal or elevated protein content;
neurophysiological examinations– electroneurography (ENG), electromyography (EMG) and transcranial magnetic stimulation (TMS).
molecular genetic analysis– studies of the gene encoding Superoxide dismutase-1;
biochemical blood test- reveals a 5-10 times increase in creatine phosphokinase (an enzyme formed during muscle breakdown), a slight increase in liver enzymes (ALT, AST), accumulation of toxins in the blood (urea, creatinine).

What happens in ALS

Due to the fact that ALS has similar symptoms to other diseases, differential diagnosis is made:

brain diseases: tumors of the posterior cranial fossa, multisystem atrophy,
muscle diseases: oculopharyngeal myodystrophy, myotonia Rossolimo-Steinert-Kurshman
systemic diseases
diseases of the spinal cord: lymphocytic leukemia or lymphoma, tumors of the spinal cord, spinal amyotrophy, syringomyelia, etc.
peripheral nerve diseases: Personage-Turner syndrome, Isaacs neuromyotonia, multifocal motor neuropathy
myasthenia gravis, Lambert-Eaton syndrome - diseases of the neuromuscular synapse

Treatment of amyotrophic lateral sclerosis

Treatment of the disease is currently ineffective. Medicines and proper care of the sick only prolong life without ensuring a full recovery. Symptomatic therapy includes:

Riluzole (Rilutek)- a well-established drug in the US and the UK. Its mechanism of action is to block glutamate in the brain, thereby improving the functioning of Superoxide Dismutase-1.
RNA interference- a very promising method of treating ALS, the creators of which were awarded the Nobel Prize in Medicine. The technique is based on blocking the synthesis of pathological protein in nerve cells and preventing their subsequent death.
stem cell transplant– Studies have shown that transplantation of stem cells into the central nervous system prevents the death of nerve cells, restores neural connections, and improves the growth of nerve fibers.
Muscle relaxants - eliminate muscle spasm and twitching (Baclofen, Sirdalud).
Anabolics (Retabolil)- to increase muscle mass.
Anticholinesterase drugs(Prozerin, Kalimin, Pyridostigmine) - prevent the rapid destruction of acetylcholine in neuromuscular synapses.
B vitamins(Neurubin, Neurovitan), vitamins A, E, C - these funds improve the conduction of an impulse along nerve fibers.
Broad spectrum antibiotics(cephalosporins of 3-4 generations, fluoroquinolones, carbopenems) are indicated for the development of infectious complications, sepsis.

The complex therapy necessarily includes feeding through a nasogastric tube, massage, exercise therapy with a doctor, and psychological consultations.

Forecast

Sadly, the prognosis for amyotrophic lateral sclerosis is unfavorable. Patients die in just a few months or years, the average life expectancy in patients:

only 7% live more than 5 years
with bulbar debut - 3-5 years
with lumbar - 2.5 years

A more favorable prognosis for hereditary cases of the disease associated with mutations in the superoxide dismutase-1 gene.

The situation in Russia is overshadowed by the fact that patients are not provided with proper care, as evidenced by the fact that Riluzot, a drug that slows down the course of the disease, was not even registered in Russia until 2011, and only in the same year the disease itself was included in the list " rare." But in Moscow there are:

Fund for helping patients with amyotrophic lateral sclerosis at the Marfo-Mariinsky Mercy Center
G.N.Levitsky Charitable Foundation for ALS Patients

At the end, I would like to add about the Ice Bucket Challenge charity event, which took place in July 2014. It was aimed at raising funds to support patients with amyotrophic lateral sclerosis and was widely used. The organizers managed to raise more than $40 million.

The essence of the action was that a person either douses himself with a bucket of ice water and captures it on video, or donates a certain amount of money to a charitable organization. The action has become quite popular due to the participation of popular performers, actors and even politicians.

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.

With the Marian form, the symptoms of the disease appear early, but the course of the disease is slow.
Sporadic or classic ALS is diagnosed in most patients. The disease develops according to the standard scenario, the rate of progression is average.
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.

Amyotrophic lateral sclerosis (ALS) is an incurable progressive disease of the central nervous system in which the patient has damage to the upper and lower motor neurons, which provokes muscle atrophy and paralysis. The frequency of this pathology is about 2-7 cases per 100 thousand people. Most often, the disease is diagnosed in patients older than 50 years.

Classification of amyotrophic lateral sclerosis

To date, scientists have not yet created a unified complex classification of ALS. There are several approaches to the classification of the disease. For example, the North American approach provides for the allocation of the following types of ALS: sporadic, familial, sporadic endemic. The classification of amyotrophic lateral sclerosis provides for the following forms of the disease: bulbar, lumbosacral, cervicothoracic and primary generalized. There are also several variants of the disease: mixed, pyramidal and segmental-nuclear.

Clinical picture of amyotrophic lateral sclerosis

The most common initial symptoms of the disease include cramps (painful muscle spasms), lethargy and weakness in the distal arms, bulbar disorders, leg muscle atrophy, and weakness in the shoulder girdle. In addition, different clinical manifestations are characteristic of different variants of the disease.

Classic variant of ALS (with cervical debut). The first sign of the disease is the formation of asymmetric paraparesis with pyramidal signs. In addition, spastic paraparesis appears, which is accompanied by hyperreflexia. Over time, the patient begins to show signs of bulbar syndrome.
Segmented variant of ALS (with cervical debut). This type of disease is manifested by the formation of asymmetric flaccid paraparesis, which is accompanied by hyporeflexia. At the same time, patients remain able to move independently for some time.
The classic variant of ALS (with a diffuse debut). This variant of the pathology begins to manifest itself as a usually flaccid asymmetric tetraparesis. In addition to it, patients are also diagnosed with bulbar syndrome, which manifests itself in the form of dysphagia and dysphonia. The patient often has a sharp decrease in body weight, shortness of breath and fatigue.
Classic variant of ALS (with lumbar debut). This variant of the pathology begins with the lower flaccid paraparesis. Later, symptoms such as muscle hypertonicity and hyperreflexia are added. At the onset of the disease, patients can still move independently.
Pyramidal variant of ALS (with lumbar debut). This type of disease begins with the appearance of a lower asymmetric paraparesis, which is then joined by an upper spastic paraparesis.
The classic variant of ALS (bulbar paralysis is observed at the beginning of the disease). This disease is characterized by dysphagia, dysphonia, dysarthria, upper and lower asymmetric paraparesis. The patient is rapidly losing weight, he has respiratory disorders.
Segmentonuclear variant of ALS (with bulbar palsy). For this variant of the disease, nasophonia, dysphagia, dysarthria are considered characteristic. As in the previous case, the patient loses body weight and develops respiratory pathologies.

Etiology and pathogenesis of amyotrophic lateral sclerosis

The exact causes of amyotrophic lateral sclerosis are still being investigated by scientists. However, there are several factors that can cause the disease. For example, about 5% of diseases have a hereditary etiology. At least 20% of cases are associated with mutations in the superoxide dismutase-1 gene. Scientists have proven that the high activity of the glutamatergic system plays an important role in the onset of the disease. The fact is that an excess of glutamic acid provokes overexcitation and sudden death of neurons. A molecular genetic mechanism for the occurrence of pathology has also been proven. It is caused by an increase in the level of DNA and RNA in cells, which ultimately leads to a violation of protein synthesis.

Scientists also identify several predisposing factors that play an important role in the appearance of ALS. The first of these factors is age. The fact is that the disease usually develops in patients aged 30-50 years. It is worth remembering that only about 5% of patients have a hereditary predisposition to ALS. In the vast majority of ALS cases, the causes of the pathology cannot be established.

The early course of the disease is characterized by symptoms such as convulsions, twitching, muscle numbness, difficulty speaking, weakness in the limbs. Since such symptoms are characteristic of many neurological diseases, diagnosing ALS at an early stage is difficult. In most cases, the disease can be diagnosed at the stage of muscle atrophy.

Depending on how the disease affects different parts of the body, ALS of the extremities and bulbar ALS are distinguished. In the first case, the flexibility in the ankle worsens in patients, awkwardness appears when walking, they begin to stumble. Bulbar ALS is manifested by difficulty in speech (twang, difficulty swallowing). Soon the patient becomes difficult to move or he can no longer move independently. Usually the disease does not adversely affect the mental abilities of the patient, but leads to severe depression. From the onset of the first symptoms to death in most cases takes about three to five years.

Diagnosis of amyotrophic lateral sclerosis

Since ALS is an incurable disease that rapidly shortens a person's life, the examination of the patient must be comprehensive and accurate. It is extremely important to make a correct diagnosis for the patient in order to start relieving his main symptoms in time, as this can prolong the life of the patient. The examination plan usually includes taking an anamnesis of life and disease, neurological and physical examination, MRI of the spinal cord and brain, EMG, and laboratory tests.

History taking and examination

Diagnosis of the disease begins with a detailed survey of the patient. Namely, the doctor needs to clarify whether the patient complains of muscle spasms and twitches, weakness and stiffness, impaired movement in the hands, speech, walking, swallowing, salivation, frequent lack of air, weight loss, fatigue, shortness of breath during exercise . In addition, the doctor should ask if the patient has noticed double vision, memory impairment, crawling sensations on the body, and urination disorders. Be sure to ask the patient about his family history - if he has any relatives with chronic movement disorders.

The main purpose of a physical examination is to assess the constitution of the patient, weigh him, measure his height, and calculate the body mass index. A neurological examination usually includes neuropsychological testing. During the assessment of bulbar functions, the doctor pays attention to the timbre of the voice, the speed of speech, the pharyngeal reflex, the presence of atrophy of the tongue, paresis of the soft palate. In addition, during the examination, the strength of the trapezius muscles is checked.

Instrumental research methods

Needle EMG is considered the main instrumental method for diagnosing the disease. This technique allows to identify such signs of the disease as acute or chronic denervation. In the early stages of the disease, it is ineffective to use stimulation EMG, since it does not reveal noticeable signs of ALS.

In the process of diagnosing the disease, doctors also use neuroimaging methods. MRI of the spinal cord and brain is of great importance in the differential diagnosis of ALS. During MRI in 17-67% of patients it is possible to detect symptoms of degeneration of the pyramidal tracts, atrophy of the motor cortex of the brain. However, it should be noted that this technique is ineffective during the diagnosis of the disease in patients with bulbar syndrome.

In the process of diagnosing ALS, many laboratory tests are performed. In particular, doctors may prescribe clinical and biochemical blood tests, a study of cerebrospinal fluid, and serological studies. However, the only effective and reliable method of analysis is still considered to be molecular genetic analysis. The presence of mutations in the superoxide dismutase-l gene is considered a suspicion for ALS.

Differential Diagnosis

Since the symptoms of amyotrophic lateral sclerosis are similar in many respects to the manifestations of other neurological pathologies, doctors must conduct a differential diagnosis. The most accurate diagnosis can be made using an MRI of the brain and spine. First of all, ALS must be differentiated from muscle diseases, which include dystrophic myotonia Rossolimo-Steinert-Kurshman, myositis with cellular abnormalities, oculopharyngeal myodystrophy.

It is also necessary to distinguish ALS from pathologies of the spinal cord:

chronic vertebrogenic ischemic myelopathy;
Kennedy's bulbospinal amyotrophy;
syringomyelia;
tumors;
familial spastic paraplegia;
chronic lymphocytic leukemia;
hexosaminidase deficiency;
lymphoma.

Differential diagnosis is also necessary in order to distinguish the disease from systemic pathologies, lesions of the neuromuscular synapse, brain pathologies such as multisystem atrophy, dyscirculatory encephalopathy, syringobulbia.

Treatment of amyotrophic lateral sclerosis

The main goals of the treatment of amyotrophic lateral sclerosis are considered to be slowing down the development of the disease, as well as eliminating its symptoms, which significantly impair the quality of life of the patient. It should be remembered that ALS is a serious incurable disease that shortens a person's life expectancy. That is why the doctor has the right to inform the patient of the diagnosis only after a comprehensive and thorough examination.

Treatment of the disease includes drug and non-drug therapy. The latter implies regime events. The patient should limit physical activity, which can accelerate the progression of ALS. In addition, it is very important to eat properly and nutritiously. Drug therapy is divided into two types: pathogenetic and palliative.

Pathogenetic therapy

To date, the only drug that can slow the progression of ALS is riluzole. It has been proven that taking it can prolong the life of the patient by an average of three months. This drug is indicated for patients whose duration of illness is less than 5 years. The patient should receive 100 mg of the drug daily. To avoid the risk of drug-induced hepatitis, AST, ALT, and LDH levels should be checked every three months. Since men and smokers have a lower blood concentration of riluzole, they should either limit themselves to smoking or completely get rid of this bad habit. You will need to take the drug for life.

Scientists have repeatedly tried to use other drugs for pathogenetic therapy. However, these experiments did not prove to be effective. Among them were:

xaliproden;
metabolic agents;
anticonvulsants;
antiparkinsonian drugs;
antibiotics;
antioxidants;
calcium channel blockers;
immunomodulators.

The effectiveness of taking high doses of Cerebrolysin has also not been proven, despite the fact that this drug is able to slightly improve the condition of patients.

Palliative Care

Palliative care is designed to eliminate the complex of symptoms of the disease and thereby improve the quality of life of the patient. To eliminate certain symptoms of ALS, the following methods are used:

spasticity - prescribe baclofen and tizanidine;
fasciculations (muscle twitching) - in addition to baclofen and tizanidine, carbamazepine is also prescribed;
depression and emotional lability - fluoxetine and amitriptyline;
walking disorder - to eliminate this symptom, walkers, canes and strollers are shown;
foot deformity - the patient should wear orthopedic shoes;
paresis of the neck - a rigid or semi-rigid head holder is shown;
thrombosis of the veins of the lower extremities - elastic bandaging of the legs is prescribed;
rapid fatigue - performing gymnastic exercises, as well as taking amantadine and ethosuximide;
humeroscapular periarthrosis - compresses with procaine, dimethyl sulfoxide solution, hyaluronidase are prescribed;
oral hypersecretion syndrome - to eliminate this symptom, dehydration correction, portable suction, mucolytics and bronchodilators are indicated;
sleep apnea syndrome - fluoxetine;
respiratory disorders - periodic non-invasive mechanical ventilation is prescribed;
dysphagia - adherence to a special diet (exclusion of dishes with solid and dense components, preference for pureed dishes, soufflé, cereals, mashed potatoes);
dysarthria - taking muscle relaxants, using ice packs on the tongue, using electronic typewriters, a special computer typing system, following speech recommendations compiled by the British ALS Association;
salivation - regular sanitation of the oral cavity (you must brush your teeth three times a day, often rinse the cavity with antiseptic solutions), limiting the use of dairy products, taking atropine and amitriptyline.

To improve muscle metabolism, the following drugs can be prescribed to an ALS patient: creatine, carnitine, levocarnitine solution, trimethylhydrazinium propionate. Patients are also shown multivitamin therapy, which involves taking multivitamins (neuromultivit, milgam) and thioctic acid.

In the majority of patients with ALS, the disease is accompanied by serious motor impairments up to mobility limitation. Of course, this causes great discomfort to the patient, who constantly needs the help of other people. Orthopedic correction techniques help to eliminate some motor disorders. The doctor needs to explain to the patient that the use of aids does not indicate his disability, but only reduces the difficulties caused by the disease.

The most life-threatening symptom of the disease is considered to be respiratory failure. Its earliest symptoms will be morning weakness, vivid dreams, daytime sleepiness, sleep dissatisfaction. To detect respiratory failure at an early stage, polysomnography and spirography are performed. To eliminate sleep apnea, medication and non-invasive ventilation are indicated. It has been proven that these techniques can extend the patient's life by one year. If the patient has a need for assisted breathing for more than 20 hours, the doctor raises the question of a complete transition to invasive ventilation.

Patients who have undergone an initial examination or re-conclusion about the disease should be under outpatient supervision. As any new symptoms appear, they should also receive expert advice. Most medications must be taken regularly by patients. Only vitamins and myotropic drugs are taken in courses in stages.

Every three months, the patient needs to undergo a spirography procedure. If he regularly takes riluzole, he needs to determine the activity of LDH, AST and ALT every six months. If the patient has dysphagia, blood glucose levels and trophic status should be measured periodically. Patients have a choice of treatment regimen: they can stay at home or stay in a hospice.

Prognosis for amyotrophic lateral sclerosis

The prognosis for patients with ALS largely depends on the course of the disease. It has been proven that about 80-90% of patients with severe respiratory complications die within 3-5 years after the onset of the first signs of the disease. The remaining 10% of patients have a benign course of the disease. The duration of the disease is significantly reduced in the presence of the following factors: the patient's age is less than 45 years, the bulbar debut of ALS, the rapid progression of the disease.