Amyotrophic lateral sclerosis: symptoms, principles of diagnosis and treatment

Amyotrophic lateral sclerosis (ALS, motor neuron disease, Charcot's disease) is a fairly rare pathology of the nervous a system in which a person develops muscle weakness and atrophy, inevitably progressing and leading to a fatal outcome. About the causes and mechanism of the disease you have already learned from the previous article, let's talk now about the symptoms, methods of diagnosis and treatment of ALS.

Symptoms of ALS

Progressive muscle weakness in the legs leads to the patient's inability to move independently.

To find out what clinical manifestations may be in Charcot's disease, one should understand what is the central and peripheral motoneurons.

Central motoneuron is located in the cortex of the cerebral hemispheres. If it is affected, then muscle weakness (paresis) develops in combination with an increase in muscle tone, reflexes are amplified, which are checked by a neurological mallet upon examination, pathological symptoms (specific reaction of the limbs to certain stimulations, for example, extension of the first toe with dashed stimulation of the outer edge of the foot, etc.).

Peripheral motor neuron is located in the brainstem and at different levels of the spinal cord (cervical, thoracic, lumbosacral), i.e. below the central. With degeneration of this motoneuron, muscle weakness also develops, but it is accompanied by a decrease in reflexes, a decrease muscle tone, the absence of pathological symptoms and the development of muscle atrophy, innervated by this motoneuron.

Central motor neuron imparts impulses to the peripheral, and the muscle to the muscle, and the muscle in response to it is reduced. In the case of UAS at some stage, the transmission of the pulse is blocked.

With amyotrophic lateral sclerosis, both central and peripheral motoneuron can be affected, and in various combinations and at different levels (for example, present degeneration of the central motoneuron and peripheral at the cervical level or only peripheral at the lumbosacral level at the onset of the disease). It depends on this, what symptoms the patient will have.

The following forms of ALS are distinguished:

• lumbosacral;
• cervicothoracic;
• bulbar: when peripheral motoneuron is damaged in the brainstem;
• High: with defeat of the central motoneuron.

This classification is based on the determination of the primary signs of affection of any of the neurons at the onset of the disease. As the disease progresses, it loses its significance, because more and more new motoneurons are involved in the pathological process at different levels. But this division plays a role in establishing a diagnosis (and does it at all?) And determining the prognosis for life (how many presumably left to live patient).

Common symptoms characteristic of any of the forms of amyotrophic lateral sclerosis are:

• purely motor disturbances;
• absence of sensitive disorders;
• absence of disorders from the organs of urination and defecation;
• the steady progression of the disease with the seizure of new muscle massifs up to complete immobility;
• the presence of periodic painful cramps in the affected parts of the body, they are called krampi.

Lumbosacral form

With this form of the disease, there are two possible options:

• the disease begins only with the defeat of peripheral motoneuron located in the anterior horn of the lumbosacral spinal cord. In this case, the patient develops muscle weakness in one leg, then it appears in the other, the tendon reflexes decrease (knee, achilles), muscle tone in the legs decreases, atrophy gradually forms (it looks like slimming legs, as if "drying out"). At the same time, fasciculations are observed in the legs - involuntary muscular jerking with a small amplitude ("waves" of muscles, muscles "move"). Then the muscles of the hands are involved in the process, the reflexes are also reduced in them, atrophies are formed. The process goes higher - the bulbar group of motoneurons is involved. This leads to the appearance of symptoms such as a violation of swallowing, blurry and fuzzy speech, a nasal hue of the voice, thinning of the tongue. There are popperhivaniya when eating food, begins to hang down the lower jaw, there are problems with chewing. In language there are also fascinations;
• at the beginning of the disease, signs of simultaneous damage to the central and peripheral motoneurons providing motion in the legs are revealed. In this case, weakness in the legs is combined with increased reflexes, increased muscle tone, muscle atrophy. Appear pathological foot symptoms of Babinsky, Gordon, Scheffer, Zhukovsky, and others. Then similar changes occur in the hands. Then motoneurons of a brain are involved also. There are violations of speech, swallowing, chewing, twitching in the tongue. Forcible laughter and crying join.

Cervico-thoracic form

It can also make its debut in two ways:

• defeat only peripheral motoneuron - there are paresis, atrophy and fasciculation, a decrease in tone in one brush. After a couple of months, the same symptoms occur in another brush. Brushes get a kind of "monkey's paw". Simultaneously, in the lower extremities reveal an increase in reflexes, pathological stop signs without atrophy. Gradually, muscle strength decreases and in the legs, the bulbar part of the brain is involved in the process. And then the vagueness of speech, problems with swallowing, paresis and fascism of the tongue join. The weakness in the muscles of the neck is manifested by the dangling of the head;
• simultaneous defeat of central and peripheral motoneurons. At the same time there are atrophies and increased reflexes with pathological wrist traits, in the legs - increased reflexes, reduced strength, pathologically stop symptoms in the absence of atrophy. Later, the bulbar department is affected.

Bulbar form

With this form of the disease, the first symptoms in the defeat of peripheral motoneuron in the brain stem become articulation disorders, choking with food intake, nasal voices, atrophy and fasciculation of the tongue. Language movements are difficult. If the central motoneuron is affected, then these symptoms are accompanied by increased pharyngeal and mandibular reflexes, violent laughter and crying. Increases the gag reflex.

In the hands as the disease progresses, paresis is formed with atrophic changes, increased reflexes, increased tone and pathological traits. Similar changes occur in the legs, but somewhat later.

High shape

This is a kind of amyotrophic lateral sclerosis, when the disease occurs with a predominant lesion of the central motoneuron. In this case, all muscles of the trunk and limbs are formed pareses with increased muscle tone, pathological symptoms.

At the high form, except for impellent infringements, there are disorders in the mental sphere: memory, thinking, intellect are decreasing. Sometimes these disorders reach the level of dementia (dementia), but this happens in 5% of all cases of amyotrophic lateral sclerosis.

Bulbar and high forms of ALS are prognostically unfavorable. Patients with this onset of the disease have a shorter life expectancy compared with the cervicothoracic and lumbosacral forms.

Whatever the first manifestations of the disease, it is steadily progressing. Parezy in various limbs lead to a disruption of the ability to move independently, to service oneself. Involvement in the process of respiratory muscles leads first to the appearance of dyspnoea with physical exertion, then shortness of breath worries already at rest, there are episodes of acute shortage of air. In terminal stages, independent breathing is simply impossible, patients need constant artificial ventilation of the lungs.

In rare cases, urinary incontinence may occur as a delay or incontinence in the final illness. With ALS early impotence develops.

In connection with the violation of chewing and swallowing, muscle atrophies, patients lose weight heavily. Atrophies of the muscles are revealed by measuring the circumference of the limbs in symmetrical places. If the difference between the right and left side is more than 1.5 cm, then this indicates the presence of atrophy. Pain syndrome in ALS is associated with joint stiffness due to paresis, prolonged immobility of the affected parts of the body, the crump.

Since at BAS the oral impermeability is broken, the lower jaw and head hang, then it is accompanied by constant drooling, which is very unpleasant for the patient (especially, that, in most cases, common sense and adequate perception of one's condition persist until the terminal stage of the disease), the impression of a mentally ill person is created. This fact contributes to the formation of depression.

ALS is accompanied by vegetative disorders: increased sweating, greasiness of the face, changes in skin color, limbs become cold to the touch.

The life span of a patient with ALS varies according to different data from 2 to 12 years, but more than 90% of patients die within 5 years from the date of diagnosis. In the terminal stage of the disease, patients are completely bedridden, breathing is maintained with the aid of an artificial ventilation apparatus. The cause of death of such patients may be a stopping of breathing, joining of complications in the form of pneumonia, thromboembolism, infection of decubitus with generalization of infection.

Principles of diagnostics

All over the world for the diagnosis of ALS requires a combination of symptoms:

• clinical symptoms of central horn motoneuron (pathological carpal and foot symptoms, increased yosohozhilnyh reflexes, increased muscle tone);
• clinical signs of affection of the peripheral neuron, confirmed by electrophysiological methods of investigation (electromyography),
  pathomorphological data (biopsy);
• the steady progression of the disease with the involvement of new muscle massifs.

A special role is assigned to the exclusion of other diseases that may manifest as symptoms similar to ALS.

In case of suspected amyotrophic lateral sclerosis after careful collection of complaints, anamnesis and neurologic examination, the patient is shown:

• electromyography (EMG);
• magnetic resonance imaging (MRI);
• laboratory tests (determination of the concentration of CK, AlAT, ASAT, creatinine content);
• investigation of cerebrospinal fluid (cerebrospinal fluid);
• molecular genetic analysis.

Needle-shaped EMG is used to diagnose amyotrophic lateral sclerosis. In the case of ALS, signs of denervation of muscles are revealed, i.e., The affected muscle has no functioning connection with the neurons and their processes. This is the confirmation of the defeat of the central motoneuron. Another sign is the fasciculation potentials recorded with EMG. At the same time, one should know that in healthy people the fasciculation potentials can be detected, but they differ in a number of signs from pathological ones (which can be determined by EMG).

MRI of the brain and spinal cord is used in diagnosis to identify diseases that can "simulate" the symptoms of ALS, but are curable, in contrast to ALS. The signs confirming the presence of ALS in MRI are the atrophy of the motor cortex of the brain, the degeneration of the pyramidal tracts (the ways connecting the central motoneuron with the peripheral one).

With ALS in the blood, an increase in the content of CK (creatine phosphokinase) in 2-9 times compared with the norm is observed. It is an enzyme that is released during the breakdown of muscle fibers. For the same reason, the rates of AlAT, AsAt and creatinine increase slightly.

In liquor with ALS, the protein content slightly increases (up to 1 g / l).

Molecular genetic analysis can reveal a gene mutation in the 21 chromosome responsible for superoxide dismutase-1. This is the most informative method of all laboratory tests.

Treatment

Unfortunately, amyotrophic lateral sclerosis is an incurable disease. T. e. To date, there is no way to slow (or stop) the progression of the disease for a long time.

So far, only one drug has been synthesized, which is reliablyprolongs the life of patients with ALS. This substance, which prevents the release of glutamate, is Riluzole. It must be taken at 100 mg per day continuously. However, Riluzole on average increases life expectancy by only 3 months. Basically, it is shown to patients who have a disease less than 5 years old, with independent breathing (the volume of the forced vital capacity of the lung is not less than 60%). At its or his appointment it is necessary to consider a side effect in the form of a medicinal hepatitis. Therefore, patients receiving Rilusol should check the liver function once every 3 months.

All patients suffering from ALS show symptomatic therapy. Its goal is to alleviate suffering, improve the quality of life, minimize the need for extraneous care.

Symptomatic treatment is required for the following disorders:

• with fasciculations, krampi - Carbamazepine (Finlepsin), Baclofen (Liorasal), Sirdalud (Tizanidine);
• to improve muscle metabolism - Berlition (Espa-Lipon, Lipoic acid), Carnitine (Elkar), Levocarnitine;
• with depressions - Fluoxetine (Prozac), Sertraline (Zoloft), Amitriptyline;
• to improve metabolism in neurons - complexes of B vitamins (Milgamma, Kombilipen, etc.);
• when drooling - Atropine is digested in the mouth, Amitriptyline in tablets taken orally, mechanical cleaning of oral cavities, the use of portable suction, the injection of botulinum toxin into the salivary glands, irradiation of the salivary glands.

Many symptoms with amyotrophic lateral sclerosis require non-drug methods of exposure.

When the patient has difficulty with swallowing food, it is necessary to switch to food with mashed and ground dishes, use soufflé, mashed potatoes, and semi-liquid cereal. After each meal, the oral cavity should be sanitized. If the intake of food becomes so difficult that the patient is forced to take a portion of food for more than 20 minutes, if he can not drink more than 1 liter of liquid per day, and also with a progressive decrease in body weight by more than 2% per month, then in this case one should think about carrying out percutaneous endoscopic gastrostomy. This is an operation, after which the food enters the body through a tube, withdrawn into the abdomen. If the patient does not agree to such an operation, and food intake becomes impossible at all, then it is necessary to go to the probe nutrition (through the mouth in the stomach insert a probe, through which the food is poured). It is possible to use parenteral (intravenous) or rectal (via rectum) nutrition. These methods allow patients not to die of hunger.

Violation of speech significantly complicates the social adaptation of the patient. Over time, speech can become so indistinct that verbal contact is simply impossible. In this case, electronic typewriters help. Abroad, computer systems of a set of characters are used by sensory sensors, located on the eyeballs.

To prevent thrombosis of deep veins of the lower limbs, the patient should use elastic bandages. When there are infectious complications, antibiotics are indicated.

The motor symptoms can be partially corrected using the use of special orthopedic devices. To maintain walking use orthopedic shoes, walking sticks, walkers, and later strollers. When the head is dangling, use a semi-rigid or rigid head restraint. In the late stages of the illness the patient needs a functional bed.

One of the most serious symptoms in ALS is breathing disorder. When the oxygen content in the blood drops to critical and develops a pronounced respiratory failure, then the use of periodic non-invasive ventilation devices is shown. They can be used by patients at home, but, because of their high cost, are inaccessible. If the need for intervention in the breathing process exceeds 20 hours a day, then the patient is shown tracheostomy and artificial ventilation (IVL). The moment when the patient begins to need artificial ventilation is critical, as it indicates an approaching lethal outcome. The question of transferring a patient to artificial ventilation is very difficult from the point of view of medical ethics. This manipulation preserves life for a while, but at the same time it prolongs suffering, because patients with ALS for a long time retain their reason.

Amyotrophic lateral sclerosis is a serious neurological disease, which today leaves virtually no chance for the patient. It is very important not to make a mistake with the diagnosis. There is no effective treatment for this disease. The whole complex of measures, both medical and social, implemented in the case of ALS, should be aimed at ensuring the maximum full-fledged life of the patient.

The first medical channel, a lecture on "Amyotrophic lateral sclerosis". Reads Levitsky Gleb Nikolayevich