ALS diagnosis – what is it? ALS syndrome

ALS disease: causes and treatment. Amyotrophic lateral sclerosis

Amyotrophic lateral disease (ALS), also known as Lou Gehrig's disease, is a slowly progressive, incurable degenerative disease of the central nervous system. According to the Association State, only half of US residents have heard of the disease; the same picture is observed in other countries.

One way to attract attention to the problem of amyotrophic lateral sclerosis became the Ice Bucket Challenge, in which people have to pour a bucket of ice water on themselves and make a donation. In August 2014, the campaign gained particular popularity around the world, attracting $50 million in donations and more than 1.5 million participants. President and CEO of 3 M Inge Thulin joined the number of participants and commented on his participation in the action:

"Amyotrophic lateral sclerosis(ALS) is a terrible disease. I accepted a call from the family of our 32+ year employee, Allen Wahlgren, who suffers from this disease. He was diagnosed at the beginning of the year and is now almost completely paralyzed. Exactly one year ago, we also lost one of the greatest leaders in the 3M dental business, Larry Leer, who passed away from ALS. I saw how quickly he "burned out", it was terrible. And I accepted this challenge not only in honor of Allen and Larry, but in honor of all the families who are faced with this terrible disease."

Causes of ALS

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

Symptoms of the disease

Early symptoms of the disease include convulsions, twitching, numbness and weakness in the limbs, as well as difficulty speaking, but such signs apply to a wide range of diseases. This makes diagnosis very difficult until the final period, when the disease has already entered the stage of muscle atrophy.

The initial lesions of ALS can occur on various parts of the body, with up to 75% of patients the disease begins in the extremities, mainly the lower ones.

What it is? How does it manifest itself?

Initial manifestations of the disease:
.weakness in the distal parts of the arms, awkwardness when performing fine movements of the fingers, thinning of the hands and fasciculations (muscle twitching)
.less commonly, the disease debuts with weakness in the proximal arms and shoulder girdle, atrophy in the leg muscles in combination with lower spastic paraparesis

It is also possible that the disease begins with bulbar disorders - dysarthria and dysphagia (25% of cases)

Cramps (painful contractions, muscle spasms), often generalized, occur in almost all patients with ALS, and are often the first sign of the disease

Characteristic clinical manifestations of ALS
Amyotrophic lateral sclerosis is characterized by combined damage to the lower motor neuron (peripheral) and damage to the upper motor neuron (pyramid tract and/or pyramidal cells of the motor cortex of the brain.
Signs of lower motor neuron damage:

muscle weakness (paresis)
hyporeflexia (decreased reflexes)
muscle atrophy
fasciculations (spontaneous, rapid, irregular contractions of muscle fiber bundles)

Signs of upper motor neuron damage:

muscle weakness (paresis).
spasticity (increased muscle tone)
hyperreflexia (increased reflexes)
pathological foot and hand signs

For ALS in most cases characterized by asymmetry of symptoms.

In atrophied or even apparently intact muscles, they are found fasciculations(muscle twitching), which can appear in a local muscle group or be widespread.

In a typical case, the onset of the disease is with loss of thenar muscles one of the hands with the development of weakness of adduction (adduction) and opposition of the thumb, (usually asymmetrically), which makes it difficult to grasp with the thumb and index finger and leads to disturbances in fine motor control in the muscles of the hand. The patient experiences difficulty picking up small objects, fastening buttons, and writing.

Then, as the disease progresses, the muscles of the forearm are involved in the process, and the hand takes on the appearance of a “clawed paw”. A few months later, a similar lesion develops on the other arm. Atrophy, gradually spreading, affects the muscles of the shoulder and shoulder girdle.

At the same time or later Damage to the bulbar muscles often develops: fasciculations and atrophy of the tongue, paresis of the soft palate, atrophy of the muscles of the larynx and pharynx, which manifests itself in the form of dysarthria (speech disorders), dysphagia (swallowing disorders), and drooling.

The muscles of facial expression and mastication are usually affected later than other muscle groups. As the disease progresses, it becomes impossible to stick out the tongue, puff out the cheeks, or pull the lips into a tube.

Sometimes weakness of the extensors of the head develops, due to which the patient cannot hold his head straight.

When the diaphragm is involved in the process Paradoxical breathing is observed (the stomach sinks in when inhaling, and protrudes when exhaling).

The legs are usually the first to atrophy anterior and lateral muscle groups, which is manifested by a “dropping foot” and a steppage-type gait (the patient raises his leg high and throws it forward, sharply lowering it).

It is characteristic that muscle atrophy is selective.

Atrophy is observed on the hands:

tenara
hypothenar
interosseous muscles
deltoid muscles

On the legs, the muscles that perform dorsiflexion of the foot are involved.
In the bulbar muscles, the muscles of the tongue and soft palate are affected.

Pyramid syndrome develops, as a rule, at an early stage of ALS and is manifested by the revival of tendon reflexes. Following this, lower spastic paraparesis often develops. In the hands, increased reflexes are combined with muscle atrophy, i.e. combined, simultaneous damage to the central (pyramidal) pathways and peripheral motor neurons is observed, which is characteristic of ALS. Superficial abdominal reflexes disappear as the process progresses. Babinski's symptom (when the sole of the foot is irritated with streaks, the big toe extends, the other toes fan out and extend) is observed in half of the cases of the disease.

There may be sensory disturbances. In 10% of patients, paresthesia is observed in the distal parts of the arms and legs. The pain, sometimes severe, usually at night, can be associated with joint stiffness, prolonged immobility, spasms due to high spasticity, cramps (painful muscle spasms), and depression. Loss of sensitivity is not typical.

Oculomotor disorders are not typical and occur in the terminal stages of the disease.

Disorders of the pelvic organs are not typical, but in an advanced stage, urinary retention or incontinence may occur.

Moderate cognitive impairment(decrease in memory and mental performance) occur in half of the patients. In 5% of patients, the frontal type develops, which can be combined with parkinsonian syndrome.

A feature of ALS is the absence of bedsores even in paralyzed bedridden patients.

Wherever they appear first signs of ALS, muscle weakness is gradually transferred to more and more parts of the body, although with the bulbar form of ALS, patients may not live to see 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, deep depression begins - the 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 and artificial nutrition. It takes 3-5 years from observing the first signs of ALS to death. However, there are widely known cases where the condition of patients with clearly recognized ALS disease has stabilized over time.

WHO HAS BASS?

There are more than 350,000 ALS patients worldwide.

Every year, per 100,000 population, 5-7 people are diagnosed with ALS. 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 ones) of 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-hour care

90% of the burden of care falls on the shoulders of family members of people with ALS. ALS leads to a possible depletion of physical, emotional and financial resources. In Russia, there are more than 8,500 people with ALS; in Moscow, there are more than 600 people with ALS, although this number is officially underestimated. The most famous Russians who fell ill 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 progression of the disease. Life extension is possible with the help of a home ventilator.

Syndromes that are clinically indistinguishable from classic ALS may result from:
Structural lesions:

parasagittal tumors

tumors of the foramen magnum

spondylosis of the cervical spine

Arnold-Chiari syndrome

hydromyelia

arteriovenous anomaly of the spinal cord

Infections:

bacterial - tetanus, Lyme disease

viral - polio, herpes zoster

retroviral myelopathy

Intoxications, physical agents:

toxins - lead, aluminum, other metals.

medications - strychnine, phenytoin

electric shock

x-ray radiation

Immunological mechanisms:

plasma cell dyscrasia

autoimmune polyradiculoneuropathy

Paraneoplastic processes:

paracarcinomatous

paralymphomatous

Metabolic disorders:

hypoglycemia

hyperparathyroidism

thyrotoxicosis

folic acid deficiency,

vitamins B12, E

malabsorption

Hereditary biochemical disorders:

androgen receptor defect - Kennedy's disease

hexosaminidase deficiency

a-glucosidase deficiency - Pompe disease

hyperlipidemia

hyperglycinuria

methylcrotonylglycinuria

All of these conditions can cause the symptoms found in ALS and should be considered in the differential diagnosis.

There is no effective treatment for the disease. The only drug, the glutamate release inhibitor riluzole (Rilutek), delays death by 2 to 4 months. It is prescribed 50 mg twice a day.

Treatment of ALS disease

The basis of treatment is symptomatic therapy:

Physiotherapy.

Physical activity. The patient should maintain physical activity to the best of his ability. As the disease progresses, the need for a wheelchair and other special devices arises.
.Diet. Dysphagia creates a risk of food entering the respiratory tract. Sometimes there is a need for a feeding tube or gastrostomy.

Amyotrophic lateral sclerosis: signs, forms, diagnosis, how to live with it?

Amyotrophic lateral sclerosis (ALS), called motor neurone disease or Charcot-Kozhevnikov, motor neuron disease, and in some places around the world Lou Gehrig's disease, which mainly applies to English-speaking regions. Dear patients, in this regard, should not be surprised or doubt if in the text of our article they come across various names for this very bad pathological process, leading first to complete disability and then to death.

What is Motor Neurone Disease at a Glance?

The basis of this terrible disease are lesions of the brain stem, which do not stop in this area, but spread to the anterior horns of the spinal cord (the level of the cervical thickening) and pyramidal tracts, leading to degeneration of skeletal muscles. In histological preparations, cytoplasmic inclusions called Bunin bodies are found, and against the background of vascular infiltrates, degeneratively altered, wrinkled and dead nerve cells are observed, in the place of which glial elements grow. It is obvious that the process, in addition to all parts of the brain and spinal cord (cerebellum, brainstem, cortex, subcortex, etc.), motor nuclei of the cranial nerves (cranial nerves), affects the meninges, cerebral vessels and the spinal vascular bed. During the autopsy, the pathologist notes that the cervical and lumbar thickening in patients is noticeably reduced in volume, and the trunk is completely atrophied.

If 20 years ago patients could barely live 4 years, in our time there has been an trend towards an increase in average life expectancy, which already reaches 5-7 years. The cerebral form still does not have longevity (3-4 years), and the bulbar form does not offer much of a chance (5-6 years). True, some live for 12 years, but mainly these are patients with the cervicothoracic form. However, what does this period mean if Charcot’s disease (sporadic forms) does not spare children (high school) and adolescence, while the male sex has a greater “chance” of acquiring motor neuron disease. Familial cases appear more often in adulthood. The real danger of getting sick remains between the ages of 40 and 60, but after 55 men no longer hold the lead and get sick just like women.

Bulbar disturbances in the activity of centers responsible for respiratory function and the functioning of the cardiovascular system usually lead to death.

In the literature you can find such a definition as “ALS syndrome”. This syndrome has nothing to do with motor neuron disease, is caused by completely different reasons and accompanies other diseases (some proteinemia, etc.), although the symptoms of ALS syndrome are very reminiscent of the early stage of Lou Gehrig’s disease, when the clinic has not yet developed rapidly. For the same reason, the initial stage of amyotrophic lateral sclerosis is differentiated from () or.

Video: lecture on ALS from the neurology educational program

The form is determined by the predominant symptoms

ALS has no boundaries in the diseased human body, it moves further and thus affects the entire body of the patient, therefore the forms of amyotrophic lateral sclerosis are distinguished rather conditionally, based on the onset of the pathological process and more striking signs of damage. Exactly predominant symptoms during amyotrophic lateral sclerosis, and not isolated affected areas, allow us to determine its forms, which can be presented in the following form:

Cervicothoracic, which first of all begins to be felt by the arms, the area of the shoulder blades, and the entire shoulder girdle. It is very difficult for a person to control movements on which before the illness there was no need to even concentrate attention. Physiological reflexes increase, and pathological reflexes arise in parallel. Soon after the hands stop responding, muscular atrophy of the hand (“monkey’s paw”) occurs, and the patient in this area becomes immobilized. The lower sections also do not stand aside and are drawn into the pathological process;
Lumbosacral. Like the arms, the lower extremities begin to suffer, weakness of the muscles of the lower extremities appears, accompanied by twitching, often cramps, then muscle atrophy occurs. Pathological reflexes (positive Babinsky's symptom, etc.) are among the diagnostic criteria, since they are observed already at the onset of the disease;
Bulbar form– one of the most severe, which only in rare cases allows the patient to extend his life expectancy by more than 4 years. In addition to problems with speech (“nasality”) and uncontrollability of facial expressions, there are signs of difficulty swallowing, which turns into a complete inability to eat food on one’s own. The pathological process, covering the entire body of the patient, has a very negative effect on the functional abilities of the respiratory and cardiovascular systems, therefore people with this form die before paresis and paralysis develop. There is no point in keeping such a patient on a ventilator (artificial lung ventilation) for a long time and feeding him with droppers and gastrostomy, since the percentage of hope for recovery in this form is practically reduced to zero;
Cerebral, which is called high. It is known that everything comes from the head, so it is not surprising that in the cerebral form, both arms and legs are affected and atrophy. In addition, it is very common for a patient who has this option to cry or laugh for no reason. These actions, as a rule, are not related to his experiences and emotions. After all, if a patient cries in his condition, this can be understood, but he is unlikely to feel funny about his illness, so we can say that everything happens spontaneously, regardless of the person’s desire. In terms of severity, the cerebral form is practically not inferior to the bulbar form, which also rapidly leads to the death of the patient;
Polyneurotic(poly means a lot). The form is manifested by multiple nerve lesions and muscle atrophy, paresis and paralysis of the limbs. Many authors do not distinguish it as a separate form, and in general, the classification of different countries or different authors may differ, which is nothing wrong, so you should not focus on this, besides, not a single source ignores the cerebral and bulbar forms.

The causes of the disease...

The factors that can trigger this severe pathological process are not so numerous, but a person can encounter any of them every day, regardless of age, gender and geographic location, except, of course, hereditary predisposition, which is typical only for a certain part of the population (5 -10%).

So, the causes of motor neuron disease:

Intoxication (any, but especially with substances from the chemical industry, where the main role is played by the influence of metals: aluminum, lead, mercury and manganese);
Infectious diseases caused by the activity of various viruses in the human body. Here, a special place belongs to a slow infection caused by a hitherto unidentified neurotropic virus;
Electrical injuries;
Lack of vitamins (hypovitaminosis);
Pregnancy can trigger motor neuron disease;
Malignant neoplasms (especially lung cancer);
Operations (removal of part of the stomach);
Genetically programmed predisposition (familial cases of motor neuron disease). The culprit of amyotrophic lateral sclerosis is a mutated gene located on chromosome 21, which is predominantly transmitted according to an autosomal dominant mode of inheritance, although in some cases an autosomal recessive variant also occurs, albeit to a lesser extent;
Unexplained reason.

...And its clinical manifestations

Symptoms of amyotrophic lateral sclerosis are characterized primarily by the appearance of peripheral and central paresis of the arms, as indicated by the following signs:

Periosteal and tendon reflexes begin to show a tendency to increase;
Atrophy of the muscles of the hands and scapular area;
The appearance of pathological reflexes (upper Rossolimo symptoms, which refers to pathological reflexes of the hand, positive Babinsky symptom, etc.);
Foot clonus, increased Achilles and knee reflexes;
The appearance of fibrillary twitching of the muscles of the shoulder girdle, and, in addition, the muscles of the lips and tongue, which can be easily noticed if you hit the muscle in the affected area with a neurologist’s hammer;
The formation of bulbar paralysis, which is manifested by choking, dysarthria, hoarseness, drooping jaw (lower, of course), excessive salivation;
With motor neuron disease, the human psyche practically does not suffer, but it is unlikely that such a severe pathology will not in any way affect the mood and will not affect the emotional background. As a rule, patients in such situations fall into deep depression, because they already know something about their illness, and their condition tells them a lot;

It is obvious that involving the entire body in the process, Charcot's disease gives rich and diverse symptoms, which, however, can be briefly represented by syndromes:

Flaccid and spastic paralysis of the arms and legs;
Muscle atrophy with the presence of:
a) fibrillary twitching caused by irritation of the anterior horns of the spinal cord, leading to excitation of some (individual) muscle fibers;
b) fascial twitching, caused by the movement of a whole bundle of muscles and arising from irritation of the roots;
Bulbar syndrome.

The main diagnostic criteria are reflexes and ENMG

As for diagnostics, it relies primarily on neurological status, and the main instrumental method for searching for ALS is ENMG (electroneuromyography), the rest of the testing is carried out to exclude diseases with similar symptoms or to study the patient’s body, in particular, the state of the respiratory system and musculoskeletal system. Thus, the list of necessary studies includes:

General clinical (traditional) tests (general blood and urine tests);
BAC (biochemistry);
Spinal puncture (most likely to exclude multiple sclerosis, since with Charcot's disease there are no changes in the cerebrospinal fluid);
Muscle biopsy;
R-graphic examination;
MRI to detect or exclude organic lesions;
A spirogram (external respiratory function test), which is very important for such patients, given that with amyotrophic lateral sclerosis, respiratory function often suffers.

To maintain and prolong life

Therapy for motor neuron disease is primarily is aimed at general strengthening, maintaining the body and alleviating symptoms. As the pathological process develops, respiratory failure increases, so in order to improve respiratory activity, the patient first (while still in a wheelchair) switches to a NIV device (for non-invasive ventilation of the lungs), and then, when he can no longer cope, to stationary ventilator equipment.

For real an effective treatment for amyotrophic lateral sclerosis has not yet been invented, however, treatment is still necessary and the patient is prescribed drug therapy:

Rilutek (riluzole) is the only targeted drug. Just a little (about a month) prolongs life and allows you to lengthen the time before transferring the patient to mechanical ventilation;
To improve speech and swallowing, anticholinesterase drugs (galantamine, proserine) are used;
Elenium, sibazon (diazepam), muscle relaxants help relieve spasms;
For depression and sleep disorders - tranquilizers, antidepressants and sleeping pills;
In case of infectious complications, antibacterial therapy (antibiotics) is carried out;
For pain, NSAIDs (non-steroidal anti-inflammatory drugs) and analgesics are used, and subsequently the patient is transferred to narcotic painkillers;
Amitriptyline is prescribed to reduce salivation;
Treatment, as a rule, also includes B vitamins, anabolic steroids that help increase muscle mass (retabolil), nootropic drugs (piracetam, cerebrolysin, nootropil).

Good care improves quality of life

One can hardly argue with the statement that a patient with Charcot's disease needs special care. It’s special, because feeding alone is worth it. What about the fight against bedsores? What about depression? The patient is critical of his condition, is very worried that every day his condition is worsening and, ultimately, he stops (not of his own free will) to take care of himself, cannot communicate with others and enjoy a delicious dinner.

Such a patient needs:

In a functional bed equipped with a lift,
In a chair with equipment that replaces a toilet;
In a wheelchair controlled by buttons that the patient can still handle;
In communication tools, for which a laptop is best suited.

Prevention of bedsores is very important. In such cases, they do not keep themselves waiting long, so the bed should be clean and dry, as well as the patient’s body.

The patient eats mainly liquid, easily swallowed food, rich in proteins and vitamins (as long as the swallowing function is preserved). Subsequently, the patient is fed through a tube, and then they resort to a forced, but last measure - the imposition of gastrostomies.

It is obvious that a patient with amyotrophic lateral sclerosis suffers greatly: both morally and physically. At the same time, the people caring for him, for whom he is a close person, also suffer. Agree, it is very difficult to look into fading eyes, see pain and despair and not be able to help defeat the disease, cure it, bring a loved one back to life. Relatives caring for such a patient lose strength and often fall into despondency and depression, and therefore they also need the help of a psychotherapist with the prescription of sedatives and antidepressants.

Usually, when describing the treatment of any disease, readers look for preventative measures and ways to get rid of a particular ailment using folk remedies. In fact, those recommended by alternative medicine, containing large amounts of B vitamins, sprouted wheat and oat grains, walnuts and propolis, may not harm the patient, but will not cure him. In addition, we should not forget that such people often have problems with swallowing, so in the case of Charcot's disease, you should not rely on traditional medicine.

This is what it is - amyotrophic lateral sclerosis (and many other names for it). The disease is terribly insidious, incomprehensible and incurable. Maybe someday a person will be able to tame this disease, at least let's hope for the best, because scientists all over the world are working on this problem.

Video: ALS in the program “Live Healthy!”

Amyotrophic lateral sclerosis (ALS, Gehrig's disease, motor neuron disease) was first described by French psychiatrist Martin Charcot in 1869.

In the US and Canada, another term is “Lou Gehrig's disease,” a famous baseball player who had to end his career at the age of 36 due to amyotrophic lateral sclerosis.

What is amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis is a nervous system disease that rapidly affects motor neurons in the spinal cord, brainstem, and cortex.

The pathological process involves the motor nerves of the cranial neurons (facial, ternary, glossopharyngeal).

Amyotrophic lateral sclerosis is rare (2-3 people per 100,000) and progresses rapidly.

In medicine, there is another concept - amyotrophic lateral sclerosis syndrome. It is provoked by another disease, so treatment in this case is aimed at eliminating the underlying pathology. If a patient has symptoms of ALS, but their causes are not known, doctors speak not of a syndrome, but of a disease.

In ALS, motor neurons are destroyed, they stop sending signals from the brain to the muscles, as a result, the latter begin to weaken and atrophy.

Causes

The reasons that provoke the appearance of this disease have not yet been established. However, scientists offer several theories:

Hereditary

It has been established that in 10-15% of cases the disease is hereditary.

Viral

This theory became widespread in the 60s of the 20th century in the USA and USSR. At this time, experiments were carried out on monkeys. The animals were injected with extracts of the spinal cord of sick people. It was also assumed that the disease could be caused by the polio virus.

Gennaya

Gene disruption is found in 20% of patients with ALS. They encode the enzyme Superoxide dismutase-1, which converts Superoxide, which is dangerous for nerve cells, into oxygen.

Autoimmune

Scientists conducted research and discovered antibodies that kill motor nerve cells. It has been proven that these antibodies can be formed in severe diseases (Hodgkin's lymphoma, lung cancer, etc.).

Neural

This theory was developed by British scientists who believe that the formation of ALS can be provoked by glial elements - cells responsible for the functioning of neurons. If the function of astrocytes, which remove glutamate from nerve endings, is impaired, the risk of Charcot's disease increases several times.

Among the risk factors, doctors identify: hereditary predisposition, age over 50 years, smoking, work involving the use of lead, and military service.

Symptoms of ALS

Regardless of the form of the disease, all patients feel muscle weakness, muscle twitching appears, and muscle mass decreases.

Muscle weakening increases rapidly, but the eye muscles and bladder sphincter are not affected.

At an early stage of the disease, the following occurs:

muscle weakness in the ankles and feet;
hand atrophy;
motor and speech disorders;
difficulty swallowing;
muscle twitching;
cramps of the tongue, arms and shoulders.

With the development of ALS, attacks of laughter and crying appear, balance is disturbed, and tongue atrophy appears.

Cognitive functions deteriorate only in 1-2% of cases of the disease; in other patients, mental activity does not change.

In the later stages, the patient develops depression, begins to experience interruptions in breathing, and loses the ability to move independently.

Patients with ALS cease to be interested in their loved ones and the outside world; they become capricious, unrestrained, emotionally labile and aggressive. When the respiratory muscles stop working, a person needs artificial ventilation.

Course of the disease

Initially, symptoms appear that prevent a person from leading a full life: muscle numbness, cramps, twitching, difficulty speaking. But, as a rule, it is difficult to determine the exact cause of these disorders at the very beginning.

In most cases, ALS is diagnosed at the stage of muscle atrophy.

Gradually, muscle weakness spreads and covers new areas of the body, the patient cannot move independently, and breathing problems begin.

Patients with ALS rarely suffer from dementia, but their condition leads to severe depression in anticipation of death. At the last stage, a person can no longer eat, walk or breathe on his own; he requires special medical devices.

Forms of the disease

The forms of the disease are distinguished by the location of the damaged muscles.

Bulbarnaya

The cranial nerves (9,10,12 pairs) are affected.

Patients with the bulbar form of ALS begin to have problems with speech, they complain of difficulties in pronunciation, and it is difficult for them to move their tongue.

As the disease progresses, the act of swallowing is impaired, and food may pour out through the nose. At a late stage of the disease, the muscles of the face and neck completely atrophy, facial expressions disappear, and patients with ALS cannot open their mouths or chew food.

Cervicothoracic

The disease progresses in the upper limbs on both sides.

Initially, discomfort appears in the hands, and it becomes difficult for a person to perform complex movements with his hands, write, or play musical instruments. Upon examination, the doctor notices that the patient’s arm muscles are tense and tendon reflexes are increased.

In later stages of the disease, muscle weakness progresses and spreads to the forearms and shoulders.

Lumbosacral

The first symptom is weakness in the lower extremities.

It becomes more difficult for the patient to do work while standing, climb stairs, ride a bicycle, and walk long distances.

Over time, the foot begins to sag, the gait changes, then the leg muscles completely atrophy, the person cannot walk, and urinary and fecal incontinence develops.

Almost 50% of patients suffer from the cervicothoracic form of ALS, 25% each account for the lumbosacral and bulbar forms.

Diagnostics

A neurologist uses the following as the main diagnostic methods:

MRI of the brain and spinal cord

Using this method, it is possible to detect degeneration of pyramidal structures and atrophy of the motor parts of the brain.

Neurophysiological examinations

To detect ALS, TCMS (transcranial magnetic stimulation), ENG (electroneurography), and EMG (electromyography) are used.

Cerebrospinal puncture

The level of protein content (normal or elevated) is determined.

Biochemical blood tests

In patients with ALS, an increase in creatine phosphokinase levels of 5 or more times, accumulation of creatinine and urea, and an increase in AST and ALT are found.

Molecular genetic analysis

The gene encoding Superoxide Dismutase-1 is being studied.

But to identify the diagnosis, these methods are not enough, in parallel differential diagnosis is used to confirm or exclude diseases:

brain: dyscirculatory encephalopathy, tumors of the posterior cranial fossa, multiple system atrophy.
spinal cord: tumors, syringomyelia, lymphocytic leukemia, spinal amyotrophy, etc.
muscles: myositis, oculopharyngeal myodystrophy, Rossolimo-Steiner-Kurshman myotonia.
peripheral nerves: multifocal motor neuropathy, Personage-Turner syndrome, etc.
neuromuscular junction: Lambert-Eaton syndrome, myasthenia gravis.

Treatment

There is no cure for ALS, but it is possible to slow down the progression of this disease, increase life expectancy and alleviate a person’s condition.

For this purpose complex therapy is used:

A drug that was first used for the treatment of ALS in the UK and the USA. Active substances block the release of glutamine and slow down the process of neuronal damage. The drug must be taken 2 times a day, 0.05 g.

Muscle relaxants and antibiotics help cope with muscle weakness. To eliminate muscle spasms and twitching, Mydocalm, Baclofen, and Sirdalud are prescribed.

To increase muscle mass, the anabolic steroid “Retabolin” is used.

Antibiotics if sepsis develops or infectious complications occur. Doctors prescribe fluoroquinolones, cephalosporins, carbopenes.

Vitamins groups B, E, A, C to improve the impulse along nerve fibers.

Anticholinesterase drugs, which slow down the process of destruction of acetylcholine (“Kalimin”, “Prozerin”, “Pyridostigmine”).

In some cases it is used stem cell transplant. It prevents the death of nerve cells, promotes the growth of nerve fibers and restores neural connections.

In later stages it is used antidepressants and tranquilizers, non-steroidal painkillers and opiates.

If sleep is disturbed, benzodiazepine drugs are prescribed.

To facilitate movements, chairs and beds with various functions, canes, and fixing collars are needed. Doctors recommend speech therapy. In the later stages of the disease, a saliva ejector will be needed, and then a tracheostomy so that the patient can breathe.

Non-traditional treatment methods for ALS do not produce positive results.

Forecast and consequences

Prognosis for patients with ALS adverse. Death occurs after 2-12 years, as severe pneumonia, respiratory failure or other serious illnesses develop, caused by Gehrig's disease.

In the bulbar form and in elderly patients, the period is reduced to 3 years.

Prevention

Measures to prevent ALS are still unknown to medicine.

The disease progresses very quickly; there are no cases of successful treatment and restoration of motor functions of the body. Muscle weakness, which increases gradually, completely changes the life of a person and his family.

But despite the disappointing prognosis and insufficient study of the disease, loved ones should hope that effective therapeutic treatments will be developed in the near future. In the meantime, it is necessary to take measures to alleviate the condition of a person with ALS.

Amyotrophic lateral sclerosis is a dangerous disease that can immobilize a person and lead to death.

Doctors still cannot establish the exact causes of the disease and find effective treatments. At the moment, all that medicine can do is to alleviate the condition of patients with ALS. Not a single patient was able to completely recover from this disease. It is important to distinguish “ALS disease” from “ALS syndrome.” In the second case, the prognosis for recovery is much better.

ALS is a rare disease. It is also commonly called amyotrophic lateral sclerosis or Charcot's disease. This disease affects the central nervous system and was first described in 1865. Its manifestations are almost always very severe and dangerous. It’s good that the percentage of cases is relatively small.

ALS disease - what is it?

Amyotrophic lateral sclerosis is a rare disease, but this does not prevent it from being considered the most common type of motor neuron disorder. Other alternative names for the disease include Lou Gehrig's disease (in honor of the first patient with this diagnosis), motor neuron disease, and motor neuron disease. The most famous person with ALS is Stephen Hawking.

Amyotrophic lateral sclerosis, what is this disease? It develops when degenerative changes begin in the motor nerve cells that allow muscles to contract normally and correctly. Destructive processes reach neurons located in the cerebral cortex and anterior spinal horns, the nuclei of the brain. When some motor nerve cells die, others do not come to replace them. As a result, the function for which they were responsible simply ceases to be performed.

Amyotrophic lateral sclerosis - causes

Although ALS disease has been studied for a very long time, it is still difficult to talk about where it comes from. The most accurate fact is that the development of the disease is influenced by several reasons. One of the most important is changes in superoxide dismutase-1. This enzyme protects cells in the body from various damage and destruction. As we begin to understand ALS, what it is and where it comes from, mutations in the chromosomes responsible for encoding SOD often become visible.

Why is this happening? In most cases, the tendency to deformity is inherited. In some cases, the anomaly develops as a result of exposure to certain unfavorable factors, such as:

autoimmune processes;
lack of neurotrophic factors;
the appearance of some excess potassium ions inside the cell;
smoking;
the destructive effects of exotoxins;
negative effects of glutamate.

ALS syndrome and ALS disease - the difference

Although the names of the two diagnoses are similar, they are different things. Lou Gehrig's disease occurs for reasons that are still unexplained and can spread to both the spinal cord and the brain. The syndrome develops against the background of spinal pathologies. In addition, this diagnosis affects only the spinal cord and has a very favorable prognosis, while ALS disease is considered incurable.

Amyotrophic lateral sclerosis - symptoms

The disease develops differently in each body. At different stages of development, ALS disease has different symptoms. As a rule, they all relate only to some physical abilities of a person. Lou Gehrig's disease does not affect mental development in any way, but it can lead to a very serious one: watching how the body gradually refuses to work, understanding and accepting this is extremely difficult.

ALS disease can be distinguished by the following signs:

weakness in the body;
atrophy;
problems with swallowing;
speech disorder;
imbalance;
sudden mood changes;
foot drop;
spasticity;
fibrillation.

How does amyotrophic lateral sclerosis begin?

The earliest signs of amyotrophic lateral sclerosis are usually muscle related. In some patients they begin to go numb, in others they twitch. What’s scary is that even after these symptoms appear, it is almost impossible to diagnose the disease. In most cases, neuronal disease ALS begins in the lower extremities. Hands suffer less often. The muscles of the speech apparatus are affected only in the more complex - bulbar form. As the disease progresses, the signs become more pronounced. At some point, the muscles atrophy completely.

What is characteristic of ALS is that the following systems and organs continue to function normally:

touch;
sense of smell;
hearing;
intestines;
bladder;
genitals (in many patients, sexual function is preserved until the end - until the onset of the terminal stage);
eye muscles;
heart.

ALS disease - stages

Since diagnosing ALS is not an easy process, it is customary to distinguish only two stages of the disease:

period of harbingers;
local period.

During the latter, in most cases, when ALS is diagnosed, the last stage occurs, so it is very difficult not to determine it. At this point, specialists begin to identify where the lesion is located. During the warning period, the main symptoms appear, but they are not pronounced enough for doctors to suspect ALS. This is a rare disease, and many specialists never have to deal with it even once in their lives.

Clinical variants of the lesion vary. If it develops along the spinal cord, the disease is classified into:

cervicothoracic;
lumbosacral;
bulbar;
cerebral.

When spreading across the shapes are as follows:

polymyelitic;
spastic;
classical.

Amyotrophic lateral sclerosis - diagnosis

The disease develops differently in each body. That is, there is no list of specific signs by which ALS can be accurately identified. In addition, early symptoms are not always similar to symptoms - clumsiness, for example, or clumsiness in the hands can be attributed to the person’s personal characteristics. In the meantime, the disease will develop safely.

When suspicions do arise, the therapist should send the patient to a neurologist, who will prescribe a full examination, including:

Blood analysis. What experts should be most interested in is the level of creatine kinase, an enzyme that begins to be produced quickly and in large quantities when muscles are destroyed.
ENMG. Electroneuromyography helps to find muscles that are losing innervation. Their electrical activity is noticeably different from healthy ones.
Magnetic resonance imaging. When amyotrophic lateral sclerosis is diagnosed, an MRI is needed to rule out other diseases with similar symptoms. This method is not suitable for determining ALS; it will not be able to detect any specific changes in this disease.
TMS. Transcranial magnetic stimulation is usually performed together with ENMG. The method evaluates the condition of motor nerve cells. Its results may be useful in confirming the diagnosis.

ALS – how to treat this disease?

The first question that patients with this diagnosis and their relatives ask is whether ALS disease is curable and, if so, what means and methods can be used to cope with it. The bad news is that there is no one perfect solution to the problem. The disease is rare and not fully studied. The good news is that if you simultaneously attack three pathological processes occurring in the body, the disease will develop more slowly.

You need to influence:

accelerated aptosis;
impaired energy metabolism;
autoimmune inflammatory processes.

There are no medications that would effectively, once and for all treat ALS, but there are drugs that can:

relieve symptoms;
slow down the development of the disease;
stabilize a normal level of quality of life.

Currently, Charcot's disease is treated with medications such as:

Levocarnitine (solution intended for oral administration);
Kartinin (capsules);
Creatine;
Trimethylhydrazinium propionate (intravenous);
multivitamin complexes.

Treatment of ALS with stem cells

This method has been gaining popularity recently. They are trying to use it in various medical fields and in the fight against ALS too. Stem cells are those that are not yet fully formed and cannot perform specific functions. But they are able to renew themselves and help produce various other cells - nerve, muscle, blood.

There is no evidence of this, but it is possible that soon the treatment of amyotrophic lateral sclerosis will be one of the most effective methods. It is expected to help achieve the following results:

activate protective and trophic function;
replace damaged neurons;
replace glial cells;
enrich neurons with nutrients.

Amyotrophic lateral sclerosis - naturopathic treatment with folk remedies

Naturopathy is an ancient medical method. Some patients with ALS try to treat amyotrophic lateral sclerosis with its help and report good results. Which is not strange, given the essence of such therapy. The latter consists of the following: the body’s own internal forces can easily cope with any ailment, the main thing is to activate them and direct them in the right direction.

Naturopaths are convinced that diseases develop when a person leads an unhealthy lifestyle. That is, if you reconsider your habits, behavior, attitude towards life, the diagnosis may disappear by itself. In addition to exploring your own capabilities, naturopathy involves:

hydrotherapy;
air baths;
physical procedures;
sunbathing;
preventive intake of dietary supplements;
color meditation;
bioresonance therapy and the use of many other means.

New in the treatment of amyotrophic lateral sclerosis

The study of the characteristics of this disease continues constantly. Relatively recently, scientists from North Carolina have made progress towards ensuring that ALS disease can be effectively treated. They managed to find the section of DNA that is responsible for sending signals along nerve endings. It is its destruction that causes the disease. That is, if everything works out, a medicine will be created that prevents the deformation of nerve cells, and at the same time the disease.

Neurological diseases of an autoimmune nature are especially dangerous to human health. Amyotrophic lateral sclerosis quickly confines the sick person to a wheelchair. 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 a medicine 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 central and peripheral motor neurons. It is characterized by increasing weakness of every muscle in the patient's body. Motor neuron disease (ICD code 10 G12.2) affects people of any age and gender.

The true origin of amyotrophic lateral sclerosis is unknown. Most studies point to the occurrence of the disease due to multiple causes.

The theory of glutamate excitotoxicity states that L-glutamate and other neurotransmitters, activated by an increased supply of calcium 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 connection between lateral sclerosis and 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 onset of the disease, the hands and feet become weak. Gradually, weakness completely spreads to the arms and legs, and speech disturbances appear. The peripheral neuron is located in the anterior horn of the spinal cord or the cranial nerve nuclei in the medulla oblongata. The patient can independently identify muscle twitching (fasciculations). Over time, paresis of individual motor nerves occurs, and muscle mass decreases due to progressive atrophy. Most patients experience asymmetric atrophy and paresis.
Damage to central motor neurons. During examination, the doctor may detect pathological reflexes and expansion of reflexogenic zones. Against the background of atrophic changes in muscles, hypertonicity is determined. It is difficult for the patient to identify these symptoms on his own. The central neuron is located in the cerebral cortex and the manifestations are associated with impaired inhibition of the excitation of nerve cells.

In 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 the person.

A characteristic symptom accompanying 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 has been developed according to the form of the disease, identifying areas with the greatest loss 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 cover usual distances, and notice a decrease in the leg muscles when reaching out. The doctor determines the appearance of unnatural reflexes (pathological Babinsky extensor foot reflex), as well as increased reflexes from the Achilles and knee tendons.
The death of neurons in the cervicothoracic spinal cord is characterized by weakness in the arm muscles, 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 intensifies. When the neurons innervating the neck are damaged, it decreases in size, muscle wasting occurs, and the patient cannot hold his head straight. Simultaneously with muscle atrophy, muscle spasm and increased tone occur. When motor neurons from the thoracic region are destroyed, atrophy of the intercostal and pectoral muscles occurs, paralysis of the diaphragm occurs, and breathing is disrupted.
The death of bulbar neurons located in the brain stem is characterized by difficulty swallowing food and speech disorder. The patient’s words become incomprehensible, the pronunciation is distorted, which is associated with weakness of the tongue muscles, prolapse of the soft palate and spasm of the masticatory muscles. Tension of the muscles of the pharynx makes it difficult to swallow food lumps; food does not pass further than the oropharynx, entering the respiratory tract, causing coughing. The facial muscles atrophy, and there is a complete loss of facial expressions. When the oculomotor nerves are damaged, eye mobility is completely lost, a 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 with damage to the central motor neuron in isolation is rare. Spastic paralysis, hyperreflexia, and pathological reflexes occur in various muscle groups. Atrophy of the precentral gyrus occurs, which is responsible for conscious movements, and the patient will not be able to perform purposeful actions.

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 method of treatment

Treatment of amyotrophic lateral sclerosis is based only on pathogenetic and symptomatic care for the patient. The pathogenetic drug of choice, which has an evidence base, is Riluzole. The medicine is used to slow the progression of ALS and 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 influence of the amino acid. Riluzole is taken 100 g once a day with meals.

Patients, without exception, require clinical observation with monitoring of clinical manifestations of ALS and laboratory tests (CPK, ALT, AST levels). Symptomatic therapy includes the use of anticonvulsants, vitamins, anabolic steroids, ATP, nootropics, the prescription 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 after 1-2 years, even with the use of drug treatment.

The most famous patient with ALS is Stephen Hawking, a famous physicist and author of several best-selling books. A striking example of the fact that you can live with a disease and cannot give up.

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