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 pattern is observed in other countries.

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

"amyotrophic lateral sclerosis(ALS) is a terrible disease. I accepted a challenge from the family of our 3M employee Allen Wahlgren, who has been suffering from this condition for over 32 years. He was diagnosed at the beginning of the year, and today he is already almost completely paralyzed. Exactly one year ago, we also lost one of the best 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 facing this terrible disease."

Causes of ALS disease

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

Symptoms of the disease

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

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

What it is? How does it manifest

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

It is also possible the onset of the disease 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 a combined lesion of the lower motor neuron (peripheral) and a lesion of the upper motor neuron (pytamide pathways and / or pyramidal cells of the motor cortex of the brain.
Signs of damage to the lower motor neuron:

muscle weakness (paresis)
hyporeflexia (decreased reflexes)
muscular atrophy
fasciculations (spontaneous, fast, non-rhythmic contractions of bundles of muscle fibers)

Signs of damage to the upper motor neuron:

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

For ALS in most cases asymmetry of symptoms.

In atrophied or even outwardly intact muscles, fasciculations(muscle twitches), which may be in a local muscle group or be widespread.

In a typical case, the onset of the disease with weight 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 grip the thumb and forefinger and leads to impaired fine motor control in the muscles of the hand. The patient feels difficulty when picking up small objects, when fastening buttons, when 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 of the other hand develops. Atrophy, gradually spreading, captures 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), salivation.

Mimic and masticatory muscles are usually affected later than other muscle groups.. As the disease develops, it becomes impossible to protrude the tongue, puff out the cheeks, and stretch the lips into a tube.

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

When involved in the process of the diaphragm paradoxical breathing is observed (on inspiration, the stomach sinks, on exhalation it protrudes).

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

Characteristically, muscle atrophy is selective.

Atrophy is observed on the hands:

tenara
hypothenar
interosseous muscles
deltoid muscles

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

pyramidal 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, an increase in reflexes is combined with muscle atrophy, i.e. there is a combined, simultaneous lesion of the central (pyramidal) pathways and peripheral motor neuron, which is characteristic of ALS. Superficial abdominal reflexes disappear as the process progresses. Babinsky's symptom (with dashed irritation of the sole, the big toe unbends, the other fingers fan-shaped diverge and unbend) is observed in half of the cases of the disease.

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

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

Pelvic organ dysfunction is not typical, but in advanced stages, urinary retention or incontinence may occur.

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

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

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

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

WHO HAS ALS?

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

ALS is diagnosed in 5-7 people per year per 100,000 population. more than 5,600 Americans are diagnosed with ALS each year. That's 15 new cases of Bass per day

ALS can affect anyone. Incidence rate (number of new) ALS - 100,000 people per year

Less than 10% of ALS cases are hereditary. ALS can affect both men and women ALS affects all ethnic and socioeconomic groups

ALS can affect young or very old adults, but is most often diagnosed in middle and late adulthood.

People with ALS require expensive equipment, treatment and constant 24/7 care

90% of the burden of care falls on the shoulders of family members of ALS patients. ALS leads to possible depletion of physical, emotional and financial resources There are more than 8,500 ALS patients in Russia and more than 600 ALS patients in Moscow, although this number is officially constantly underestimated. The most famous Russians with ALS are Dmitry Shostakovich, Vladimir Migulya.

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

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

parasagittal tumors

foramen magnum tumors

spondylosis of the cervical spine

Arnold-Chiari syndrome

hydromyelia

arteriovenous anomaly of the spinal cord

Infections:

bacterial - tetanus, Lyme disease

viral - poliomyelitis, shingles

retroviral myelopathy

Intoxications, physical agents:

toxins - lead, aluminum, other metals.

medicines - strychnine, phenytoin

electric shock

x-rays

Immunological mechanisms:

plasmocyte dyscrasia

autoimmune polyradiculoneuropathy

Paraneoplastic processes:

paracarcinomatous

paralymphomatous

Metabolic disorders:

hypoglycemia

hyperparathyroidism

thyrotoxicosis

folate 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 seen 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 be physically active as much as possible. As the disease progresses, a wheelchair and other special devices are needed.
.Diet. Dysphagia creates the danger of food entering the respiratory tract. Sometimes there is a need for food through a tube or in a gastrostomy.

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

Amyotrophic lateral or lateral sclerosis (ALS), referred to as motor neuron disease or Charcot-Kozhevnikov disease, motor neuron disease, and in some parts of the world, Lou Gehrig's disease, which mainly refers to regions that speak English. Dear patients, in this regard, should not be surprised or doubt if in the text of our article they meet various names for this very bad pathological process, leading first to complete disability, and then to death.

Briefly about what is motor neuron disease

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

If even 20 years ago, patients could barely live 4 years, then in our time there has been a a trend towards an increase in average life expectancy, which already reaches 5-7 years. The cerebral form still does not differ in longevity (3-4 years), and the bulbar form does not give much chance (5-6 years). True, some live for 12 years, but, basically, these are patients with a cervicothoracic form. However, what does this period mean if Charcot's disease (sporadic forms) does not spare childhood (senior school) and adolescence, while the male sex has more “chances” to acquire motor neuron disease. Family cases debut more often in adulthood. The real danger of falling ill remains in the interval between 40 and 60 years, but after 55 men no longer hold the lead and fall ill on a par with women.

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

In the literature, you can find such a definition as "ALS syndrome". This syndrome has nothing to do with motor neuron disease, it is caused by completely different causes and accompanies other diseases (some proteinemias, etc.), although the symptoms of ALS syndrome are very similar to the early stage of Lou Gehrig's disease, when the clinic has not yet received rapid development. For the same reason, the initial stage of amyotrophic lateral sclerosis is differentiated from () or.

Video: lecture on ALS from the educational program in neuroscience

The form is determined by the predominant symptoms

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

cervicothoracic, which first of all begin to feel the hands, the area of the shoulder blades, the entire shoulder girdle. It is very difficult for a person to control movements, on which, before the illness, even attention did not need to be concentrated. Physiological reflexes increase, pathological reflexes arise in parallel. Shortly after the hands cease to obey, muscle atrophy of the hand ("monkey's paw") sets in, and the patient in this area is immobilized. The lower sections also do not stand aside and are drawn into the pathological process;
lumbosacral. Like the hands, the lower extremities begin to suffer, weakness of the muscles of the lower extremities appears, accompanied by twitching, often convulsions, then muscle atrophy occurs. Pathological reflexes (positive sign of Babinsky, etc.) are 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 life expectancy by more than 4 years. In addition to problems with speech ("nasal") and uncontrollable facial expressions, there are signs of difficulty swallowing, turning into a complete inability to eat on their 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. It makes no sense to keep such a patient on a ventilator (artificial lung ventilation) for a long time and feed him with droppers and with the help of a gastrostomy, since the percentage of hope for recovery with 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 atrophied. In addition, it is very common for a patient with this variant to cry or laugh for no reason. These actions, as a rule, are not connected with his experiences and emotions. After all, if a patient cries in his condition, this can be understood, but it is unlikely that he will become funny from his illness, so we can say that everything happens spontaneously, regardless of the person’s desire. According to the severity of the course, the cerebral form is practically not inferior to the bulbar one, which also rapidly leads to the death of the patient;
Polyneurotic(poly means a lot). The form is manifested by multiple lesions of the nerves and muscle atrophy, paresis and paralysis of the limbs. Many authors do not distinguish it into a separate form, and indeed, the classification of different countries or different authors may differ, which is nothing to be ashamed of, so you should not focus on this, moreover, not a single source bypasses the cerebral and bulbar forms.

Causes of illness...

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

So, the causes of motor neuron disease:

Intoxication (any, but especially - substances of the chemical industry, where the main role is assigned to the influence of metals: aluminum, lead, mercury and manganese);
Infectious diseases caused by the vital 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 injury;
Lack of vitamins (hypovitaminosis);
Pregnancy can provoke a disease of motor neurons;
Malignant neoplasms (especially lung cancer);
Operations (removal of part of the stomach);
Programmed genetic 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 by autosomal dominant inheritance, although in some cases an autosomal recessive variant also occurs, although to a lesser extent;
Unexplained reason.

…and its clinical manifestations

The symptoms of amyotrophic lateral sclerosis are characterized, first of all, by the appearance of peripheral and central paresis of the hands, 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 zone;
The occurrence of pathological reflexes (upper symptoms of Rossolimo, which refers to the pathological reflexes of the hand, a positive symptom of Babinsky, etc.);
Stop clonus, increased Achilles and knee reflexes;
The appearance of fibrillar twitches of the muscles of the shoulder girdle, and, in addition, the muscles of the lips and tongue, which can be easily seen 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 of the jaw (lower, of course), excessive salivation;
With motor neuron disease, the human psyche practically does not suffer, however, it is unlikely that such a severe pathology will not affect the mood in any way and will not affect the emotional background. As a rule, patients in such situations fall into a deep depression, because they already know something about their disease, and the state tells a lot;

Obviously, involving the whole organism in the process, Charcot's disease gives a rich and diverse symptomatology, which, however, can be briefly represented by syndromes:

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

The main diagnostic criteria are reflexes and ENMG

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

General clinical (traditional) tests (general blood and urine tests);
LHC (biochemistry);
Spinal puncture (rather to exclude multiple sclerosis, since there are no changes in the cerebrospinal fluid in Charcot's disease);
muscle biopsy;
R-graphic inspection;
MRI to detect or rule out organic lesions;
Spirogram (examination of the function of external respiration), which is very important for such patients, given that respiratory function often suffers in amyotrophic lateral sclerosis.

To maintain and prolong life

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

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

Rilutek (Riluzole) is the only targeted drug available. 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 the act of swallowing, anticholinesterase drugs (galantamine, prozerin) are used;
Elenium, sibazon (diazepam), muscle relaxants help relieve spasms;
With depression and sleep disturbance - tranquilizers, antidepressants and sleeping pills;
In the case of infectious complications, antibiotic therapy (antibiotics) is carried out;
For pain, NSAIDs (non-steroidal anti-inflammatory) and analgesics are used, and subsequently the patient is transferred to narcotic painkillers;
Amitriptyline is prescribed to reduce salivation;
The treatment, as a rule, also includes B vitamins, anabolic steroids that increase muscle mass (retabolil), nootropic drugs (piracetam, cerebrolysin, nootropil).

Good care improves the quality of life

One can hardly argue with the statement that a patient with Charcot's disease needs special care. It is in a special way, because one feeding is worth something. And the fight against bedsores? What about depression? The patient is critical of his condition, he is very worried that every day his condition worsens and, in the end, he ceases (against his will) to serve himself, cannot communicate with others and enjoy a delicious dinner.

Such a patient needs:

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

Bed sore prevention 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 body of the patient.

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

Obviously, a patient with amyotrophic lateral sclerosis suffers a lot: both morally and physically. At the same time, people who care for him, for whom he is a close person, also suffer. Agree, it is very difficult to look into fading eyes, to see pain and despair and not be able to help defeat the disease, cure, bring back to life a dear person. Relatives caring for such a sick person lose strength and often become discouraged and depressed, and therefore they also need the help of a psychotherapist with the appointment of sedatives and antidepressants.

Usually, in the description of the treatment of any disease, readers are looking for preventive measures and ways to get rid of a particular ailment with folk remedies. In fact, recommended by alternative medicine, containing large amounts of B vitamins, sprouted wheat and oat grains, walnuts and propolis may not interfere with the patient, but they 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 more of its names). The disease is terribly insidious, incomprehensible and incurable. Maybe someday people will be able to tame this disease, at least let's hope for the best, because scientists around the world are working on this problem.

Video: ALS in the program "Live Healthy!"

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

In the US and Canada, there is another term - "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 the motor neurons of the spinal cord, brainstem, and cortex.

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

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

In medicine, there is another concept - the syndrome of amyotrophic lateral sclerosis. It is provoked by another disease, so the 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 are not talking about the syndrome, but about the 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 the USSR. At this time, experiments were carried out on monkeys. Animals were injected with extracts of the spinal cord of sick people. It was also assumed that the disease can be provoked 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 found 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 provoke elements of glia - cells responsible for the vital activity of neurons. If the function of astrocytes that remove glutamate from nerve endings is impaired, the risk of Charcot's disease increases several times.

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

ALS symptoms

Regardless of the form of the disease, all patients feel muscle weakness, muscle twitches appear, and muscle mass decreases.

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

At an early stage of the disease occurs:

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

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

Cognitive functions worsen 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, interruptions in breathing begin, and the ability to move independently is lost.

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, the person needs mechanical ventilation.

Course of the disease

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

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

Gradually, muscle weakness spreads and covers new parts of the body, the patient cannot move independently, 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 and breathe on his own, he needs special medical devices.

Forms of the disease

Forms of the disease are distinguished by the location of the damaged muscles.

Bulbarnaya

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

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

With the progression of the disease, the act of swallowing is disturbed, food can 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 and chew food.

cervicothoracic

The disease progresses in the upper limbs on both sides.

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

In the advanced 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, urinary and fecal incontinence develops.

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

Diagnostics

The neurologist uses 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, TKMS (transcranial magnetic stimulation), ENG (electroneurography), 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 by 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 investigated.

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

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

Treatment

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

For this, complex therapy is used:

The drug, which was first used in 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 for 0.05 g.

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

To increase muscle mass, the anabolic "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 the 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 the later stages, use antidepressants and tranquilizers, non-steroidal painkillers and opiates.

If sleep is disturbed, benzodiazepine preparations are prescribed.

To facilitate movements, chairs and beds with various functions, canes, fixing collars are needed. Doctors advise 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 methods of treatment for ALS do not give a positive result.

Forecast and consequences

Prognosis for ALS patients adverse. The lethal outcome occurs in 2-12 years, as severe pneumonia, respiratory failure or other serious diseases provoked by Gehrig's disease develop.

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

Prevention

Measures to prevent ALS medicine are still unknown.

The disease progresses very quickly, there are no cases of successful treatment and restoration of the 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 methods of treatment 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 determine 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 could 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 disease is a rare disease. It is also called amyotrophic lateral sclerosis or Charcot's disease. This ailment affects the central nervous system and was first described in 1865. Its manifestations are almost always very severe and dangerous. It is 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 dysfunction. Other alternative names for the disease include Lou Gehrig's disease (in honor of the first patient with such a diagnosis), motor neuron disease, and motor neuron disease. The most famous person with ALS is Stephen Hawking.

What is amyotrophic lateral sclerosis? It develops when degenerative changes begin in the motor nerve cells, due to which the muscles contract normally and correctly. Destructive processes reach the 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 several reasons affect the development of the disease. One of the most important is the change in superoxide dismutase-1. This enzyme protects cells in the body from damage and destruction. When it starts to figure out, ALS disease, what it is, where it comes from, mutations in the chromosomes responsible for coding SOD often become visible.

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

autoimmune processes;
lack of neurotrophic factors;
the appearance of some excess amount of potassium ions inside the cell;
smoking;
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 appears for reasons still unexplained and can spread to both the spinal cord and the brain. The syndrome develops against the background of pathologies of the spine. 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 in each organism develops in its own way. At different stages of development, ALS disease has different symptoms. As a rule, all of them concern only some physical abilities of a person. Lou Gehrig's disease does not affect the mental development in any way, but it can lead to a very serious one: it is extremely difficult to watch how the body gradually refuses to work, to understand and accept it.

ALS disease can be distinguished by the following signs:

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

How does amyotrophic lateral sclerosis begin?

The very first signs of amyotrophic lateral sclerosis are usually associated with muscles. In some patients, they begin to go numb, in others they twitch. What is scary, even after the appearance of these symptoms, it is almost impossible to diagnose the disease. In most cases, ALS neuronal disease begins in the lower extremities. The hands are less affected. The muscles of the speech apparatus are affected only with a more complex - bulbar form. As the disease progresses, the symptoms 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;
smell;
hearing;
intestines;
bladder;
genitals (in many patients, sexual function is preserved until the last - before the onset of the terminal stage);
eye muscles;
heart.

ALS disease - stages

Since the diagnosis of 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, therefore it is very difficult not to determine it. At this point, specialists begin to identify where the lesion is located. During the precursor period, the main symptoms appear, but they are not pronounced enough for doctors to suspect ALS. This is a rare ailment, and many professionals do not have to deal with it even once in their lives.

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

cervicothoracic;
lumbosacral;
bulbar;
cerebral.

When propagating across, the forms are as follows:

polymyelitic;
spastic;
classical.

Amyotrophic Lateral Sclerosis - Diagnosis

The disease in each organism develops in its own way. That is, there is no list of specific signs by which ALS could be accurately identified. In addition, early symptoms are not always similar to symptoms - clumsiness, for example, or awkwardness in the hands can be attributed to the personal characteristics of a person. The disease, meanwhile, will develop safely.

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

Blood analysis. Most of all, experts should be interested in 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 differs markedly from healthy ones.
Magnetic resonance imaging. When diagnosed with amyotrophic lateral sclerosis, 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, as a rule, is carried out together with ENMG. The method evaluates the state of motor nerve cells. Its results can be useful in confirming the diagnosis.

ALS - how to treat this disease?

The first question asked by patients with this diagnosis and their relatives is ALS disease, is it curable, and if so, by what means and ways can it be dealt with. The bad news is that there is no one perfect solution to a problem. The disease is rare and not fully explored. The good news is that if you hit three pathological processes in the body at the same time, the disease will develop more slowly.

You need to act on:

accelerated aptosis;
disturbed energy metabolism;
autoimmune inflammatory processes.

There are no drugs 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 the normal level of quality of life.

Now the treatment of Charcot's disease is carried out with such medicines as:

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

Treatment of ALS with stem cells

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

There is no confirmation of this, but it is not excluded that in the near future the treatment of amyotrophic lateral sclerosis will be one of the most effective methods. It is expected that it will help to achieve the following results:

activate the 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 amyotrophic lateral sclerosis try to treat with it and talk about good results. Which is not strange, given the essence of such therapy. The latter consists in the following - the body's own internal forces may well 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 to life, the diagnosis may disappear by itself. In addition to exploring your own capabilities, naturopathy involves:

hydrotherapy;
air baths;
physical procedures;
sunbathing;
prophylactic 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 is ongoing. More recently, scientists in North Carolina have made progress towards making ALS an effective treatment. They managed to find the part of DNA that is responsible for sending signals along the nerve endings. Just its destruction and causes 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 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 down 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.

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