Bass reasons. Manifestations of Lou Gehrig's disease. Public support and cultural reference

Among neurological diseases, there are those that can be successfully treated. But there are those that can only be stopped - they belong to the group of degenerative-dystrophic. One of these diseases is BASS- amyotrophic lateral sclerosis. Read about others here.

What is the essence of pathology?

At amyotrophic lateral sclerosis going on gradual death nerve cells located in the lateral horns spinal cord and responsible for motor function.

At the same time, various movement disorders. The disease gradually progresses and eventually leads to lethal outcome due to damage to the respiratory muscles.

Who is sick?

ALS is a fairly rare disease. In the world they get sick no more three people out of a hundred thousand. At the age of 65 years, the disease is one and a half times more common in men, then men and women get sick equally.

Arise amyotrophic lateral sclerosis can be at any age - from teenagers to the elderly. In ten percent of cases, this is a familial form of the disease. The remaining cases are sporadic.

Classification

There are several forms of ALS, depending on the first part of the spinal cord affected:

• cervical;
• chest;
• lumbar;
• sacral.

Ask your doctor about your situation

The reasons

A single reason for the development of lateral amyotrophic sclerosis No, it is the result of a combination of several factors.

Causal factors can come from the organism itself, and from the external environment:

• genetic disorders — 18 genes responsible for the development of ALS were found;
• Neurotropic viruses and prions;
• bad ecology;
• excessive stress.

Clinical picture

The symptoms of amyotrophic lateral sclerosis vary depending on the level of the lesion:

1. With pathology in the cervical and thoracic spinal cord, the first symptoms will be the development of flaccid paralysis upper limbs. In this case, an increase in all reflexes will be observed. Then there are signs of tension paralysis lower extremities, all reflexes are also amplified.
2. Appear pathological signs pyramidal tract lesions. Muscle atrophy develops gradually. The progression of the disease leads to a violation of the mobility of the diaphragm and intercostal muscles - as a result, an acute respiratory failure.
3. If the disease begins with a lesion lumbar and cross sections, the first to develop is flaccid paralysis of the lower extremities and increased reflexes. Pathological pyramidal symptoms join.
4. Then tension paralysis develops. upper limbs with hyperreflexia. The paralysis of the upper extremities reaches its maximum later than the paralysis of the lower ones. In both cases, the last stage are signs of bulbar insufficiency.

The bulbar form is distinguished - with it, the disease begins with the following symptoms:

The most unfavorable option for the development of amyotrophic lateral sclerosis is the primary generalized form:

• Straightaway paralysis of all limbs develops;
• tendon reflexes are weakened;
• Practically immediately joins bulbar syndrome with impaired speech and swallowing;
• A patient quickly loses body weight;
• Fast respiratory failure develops.

Diagnostics

ALS is a serious disease with an inevitable fatal outcome. Therefore, in order to make such a diagnosis, it is necessary to conduct a lot of research.

What is taken into account when making a diagnosis:

• The presence of the affected peripheral motor neuron, confirmed by clinical data and instrumental research methods;
• The presence of the affected central motor neuron, confirmed by clinical data;
• progressive the spread of these injuries in all parts of the spinal cord;
• Exclusion of all others diseases that can cause such symptoms.

How to determine clinically the defeat of the peripheral motor neuron?

At the same time, paresis and atrophy of the muscles of those parts of the body that are innervated by the affected neurons develop:

• Damage at the level of the brain stem- all the muscles of the face, soft palate, tongue, pharynx and larynx suffer;
• With a lesion in the cervical region the muscles of the neck, upper limbs, diaphragm suffer;
• Defeat in thoracic region - muscles of the back and anterior abdominal wall suffer;
• With a lesion in the sacrum the muscles of the back and legs are affected.

How is central motor neuron lesion clinically defined?

Enhanced reflexes, pyramidal signs, spasticity appear:

• With damage to the brain stem- spasm of masticatory muscles, signs of oral automatism, spasm of the larynx, involuntary crying and laughter;
• With a lesion in the neck, breast and lumbar- spasm and hyperreflexes in the corresponding limb, small cramps muscles, pyramid signs.

A reliable diagnosis of amyotrophic lateral sclerosis is made with damage to peripheral and central motor neurons in three sections of the spinal cord.

Instrumental Methods

What instrumental methods are used to diagnose ALS:

• Electromyography- needle and stimulation, determines damage to peripheral neurons;
• For differential diagnostics and exclusion of other diseases, computed or magnetic resonance imaging is performed.

From laboratory methods the only specific one is genetic mapping— identification of genes responsible for the development of amyotrophic lateral sclerosis.

Differential Diagnosis

Differential diagnosis should be carried out in order to exclude all such diseases:

• Various spinal amyotrophies, including age;
• paraneoplastic syndrome in malignant tumors;
• Hormone imbalance;
• Some infections with tropism to the substance of the spinal cord;
• Vascular spinal cord injury;
• Chronic intoxication with heavy metals;
• Physical spinal cord injury.

Treatment

Amyotrophic lateral sclerosis is not treatable. The only outcome of this disease is death from acute respiratory failure.

However, the treatment is still applied and has two goals:

• slowdown progression pathological process, the maximum extension of the ability to self-service;
• Achievement better quality of life for patients.

To achieve the first goal, only one drug is used - Riluzole. It prolongs the life of patients with amyotrophic lateral sclerosis by three months.

In most cases, only symptomatic treatment is used:

• With convulsions one of the following drugs is prescribed - Carbamazepine, Baclofen, Tizanil;
• Pain syndrome can only be removed narcotic analgesics- Tramal, Morphine;
• For depression Amitriptyline, Fluoxetine is prescribed;
• For correction metabolic disorders - Cortexin, Glutoxim, Thiogamma;
• B vitamins— Kombilipen, Milgamma.

At posture disorders and deformities of the feet are prescribed corsets and orthopedic shoes. For prevention thrombosis — compression stockings or bandaging elastic bandage. When the process is broken swallowing- pureed food, nutrition through a nasogastric tube.

Despite more than 100 years of study, amyotrophic lateral sclerosis (ALS) remains a fatal disease of the central nervous system. The disease is characterized by a steadily progressive course with selective damage to the upper and lower motor neurons, which leads to the development of amyotrophy, paralysis and spasticity. To date, the issues of etiology and pathogenesis remain unclear, and therefore have not been developed. specific methods diagnosis and treatment of this disease. A number of authors noted an increase in the incidence of the disease among individuals young age(up to 40 years).

ICD-10 G12.2 Motor neuron disease

EPIDEMIOLOGY

amyotrophic lateral sclerosis debuts at the age of 40 - 60 years. Average age disease onset at age 56. ALS is a disease of adults, and is not observed in persons under 16 years of age. Men are slightly more affected(male-female ratio 1.6-3.0:1).

ALS is sporadic disease and occurs with a frequency of 1.5 - 5 cases per 100,000 population.
AT 90% of ALS cases are sporadic, and in 10% - family or hereditary character as with autosomal dominant(mostly) and autosomal recessive types of inheritance. The clinical and pathological characteristics of familial and sporadic ALS are almost identical.

Currently age is a major risk factor with ALS, which is confirmed by an increase in the incidence after 55 years, and in this age group there are no longer differences between men and women. Despite the significant association of ALS with age, aging is only one of the predisposing factors in the development of the pathological process. The variability of the disease both in different age groups and among people of the same age suggests the existence of certain risk factors: deficiency, or vice versa, the presence of certain neuroprotective factors, which currently include: neurosteroids or sex hormones; neurotrophic factors; antioxidants.

Some researchers emphasize favorable course diseases in young women, which confirms the undoubted role of sex hormones, especially estradiol and progestin, in the pathogenesis of amyotrophic lateral sclerosis. This is confirmed by: a high incidence of ALS in men under 55 years of age (at the same time, they have an earlier onset and rapid progression of the disease compared to women); with the onset of menopause, women get sick as often as men; isolated cases of amyotrophic lateral sclerosis during pregnancy. To date, there are single works on the study of the hormonal status of patients with amyotrophic lateral sclerosis, and none devoted to determining the concentrations of hormones in young patients.

ETIOLOGY

The etiology of the disease is not clear. The role of viruses, immunological and metabolic disorders is discussed.

The role of mutations in the gene has been shown in the development of the familial form of ALS superoxide dismutase-1(Cu/Zn-superoxide dismutase, SOD1), chromosome 21q22-1, ALS associated with chromosome 2q33-q35 was also detected.

Syndromes that are clinically indistinguishable from classic ALS may result from:
Structural lesions:
parasagittal tumors
foramen magnum tumors
spondylosis 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
deficit folic acid,
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.

PATHOGENESIS

To date, there is no generally accepted hypothesis of the pathogenesis of amyotrophic lateral sclerosis. According to modern ideas , the development of ALS is due to the interaction of hereditary and exogenous provoking factors. Lots of pathological changes in neurons leads to the assumption of a multivariate etiological factor.

The disorders at the cellular level in motor neuron disease are extensive and include:
changes in the cytoskeleton: structural disorganization of neurofilaments, which leads to impaired axonal transport
toxic effect of intracellular protein aggregates affecting the functioning of the mitochondrial apparatus and disruption of the secondary assembly of cytoplasmic proteins
microglial activation and metabolic changes free radicals and glutamate.

Normally, SOD-1 inhibits the IL-1b-converting enzyme. Under the action of the latter, IL-1b is formed, which initiates the death of neurons after binding to its membrane receptor. The product of the defective SOD-1 gene is not capable of inhibiting the IL-1b-converting enzyme; the resulting IL-b induces the death of motor neurons on various levels nervous system.

Modern views on the pathogenesis of amyotrophic lateral sclerosis include picture of big role oxidative stress in the development of this pathology.

Supposed that hydrogen peroxide could serve as an abnormal substrate for the conformed SOD1 molecule. As a result, there is an increase in peroxidant reactions and an increase in the production of toxic hydroxyl radicals. Significant role of oxidative stress in the pathogenesis of ALS is confirmed biochemical research, which revealed the presence in patients of deficiency of a number of antioxidant defense systems, mitochondrial dysfunction, dysmetabolism of glutathione, glutamate excitotoxin and mechanisms of glutamate transport. It is possible that oxidative damage to protein targets (SOD1, neurofilament proteins, alpha-synuclein, etc.) can facilitate and accelerate their joint aggregation, the formation of cytoplasmic inclusions, which serve as a substrate for further pathochemical oxidative reactions.

CLASSIFICATION

According to the predominant localization of the lesion of various muscle groups, the following forms of amyotrophic lateral sclerosis are distinguished:
cervicothoracic form(50% of cases)
bulbar form(25% of cases)
lumbosacral shape(20 - 25% of cases)
high (cerebral) form(1 – 2%)

ALS-plus syndromes are distinguished as a separate variant of ALS, which include:
ALS associated with frontotemporal dementia. It is most often familial and accounts for 5-10% of cases.
ALS, combined with frontal dementia and parkinsonism, and associated with a mutation of the 17th chromosome.

North American classification of ALS (Hudson A.J. 1990)
Sporadic ALS
1. Classic ALS
Debuts:
bulbar
cervical
chest
lumbar
diffuse
respiratory
2. Progressive bulbar palsy
3. Progressive muscular atrophy
4. Primary lateral sclerosis
Family ALS
1. Autosomal dominant

no SOD-1 mutation (mutations of other genes, no known genetic defect)
2. Autosomal recessive
associated with SOD-1 mutations
other forms (total 10 linkage loci are known)
3. Western Pacific ALS-parkinsonism-dementia complex

ALS classification O.A. Hondkariana (1978)
Forms of ALS:
bulbar
cervicothoracic
lumbosacral
primary generalized
high
Options:
mixed (classic)– uniform lesion of CMN and PMN
segmental-nuclear- preemptive PMN lesion
pyramidal (high form of ALS)- Presumptive lesion of CMN

PATHOMORPHOLOGY

Pathological examination reveals:
selective atrophy of the anterior motor roots and cells of the anterior horns of the spinal cord, most pronounced changes occur in the cervical and lumbar segments
posterior sensory roots remain normal
in nerve fibers lateral corticospinal tracts of the spinal cord, there is demyelination, uneven swelling, followed by disintegration and death of the axial cylinders, which usually extends to peripheral nerves
in some cases, atrophy of the precerebral gyrus is noted big brain, sometimes atrophy captures VIII, X and XII pairs cranial nerves, the most pronounced changes occur in the nucleus hypoglossal nerve
atrophy or absence of motor neurons, accompanied by moderate gliosis without signs of inflammation
loss of giant pyramidal cells (Betz cells) of the motor cortex
degeneration of the lateral pyramidal tracts of the spinal cord
atrophy of groups of muscle fibers (as part of motor units)

CLINIC

Initial manifestations of the disease:
weakness in the distal arms, clumsiness with fine finger movements, 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)
crumpy ( 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 thumb, (usually asymmetrical), which makes it difficult to grasp with 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 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
Muscles involved in the legs performing dorsiflexion of the foot.
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 uncharacteristic and found on terminal stages diseases.

!!! Functional disorders pelvic organs 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. 5% of patients develop dementia of the frontal type, which can be combined with Parkinson's syndrome.

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

Clinic of the main forms of the disease
cervicothoracic form(50% of cases):
atrophic and spastic-atrophic paresis of the arms and spastic paresis of the legs are characteristic
bulbar form:
occurs in 25% of ALS cases
dominated bulbar disorders(paralysis of the soft palate, tongue, weakness chewing muscles, speech disorders, swallowing, continuous flow of saliva, in the later stages respiratory disorders), it is possible to attach pseudobulbar manifestations in the form of violent laughter and crying, revitalization of the mandibular reflex
later signs of damage to the limbs join
with this form, the shortest life expectancy: patients die from bulbar disorders (due to aspiration pneumonia, respiratory failure), while often remaining able to move independently
lumbosacral shape(20 - 25% of cases):
atrophic paresis of the legs develops with mild pyramidal symptoms
in later stages arm muscles and cranial musculature are involved
High (cerebral) form(1 – 2%):
manifested by spastic tetraparesis (or lower paraparesis), pseudobulbar syndrome (violent laughter and crying, revival of the mandibular reflex) with minimal signs of damage to peripheral motor neurons

Complications of ALS
paresis and paralysis of the limbs, neck muscles (inability to hold the head)
swallowing disorders
respiratory failure, respiratory failure
aspiration pneumonia
limb contractures
urosepsis
depression
multiple cramps (painful muscle spasms)
cachexia

Progression of movement disorders ends in death in a few (2-6) years. Sometimes the disease is acute course.

DIAGNOSTICS

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

Amyotrophic lateral sclerosis should be suspected:
with the development of weakness and atrophy, and possibly fasciculations (muscle twitches) in the muscles of the hand
with weight loss of the thenar muscles of one of the hands with the development of weakness of adduction (adduction) and opposition of the thumb (usually asymmetrically)
at the same time, there is difficulty in grasping with the thumb and forefinger, difficulty in picking up small objects, in fastening buttons, in writing
with the development of weakness in the proximal arms and shoulder girdle, atrophy in the muscles of the legs in combination with lower spastic paraparesis
when a patient develops dysarthria (speech disorders) and dysphagia (swallowing disorders)
when a patient develops cramps (painful muscle contractions)

Diagnostic criteria for ALS of the world organization of neurologists (1998):
defeat (degeneration) of the lower motor neuron, proven clinically, electrophysiologically or morphologically
lesion (degeneration) of the upper motor neuron according to the clinical picture
progressive development of subjective and objective signs of the disease at one level of damage to the central nervous system or their spread to other levels, determined according to the anamnesis or examination

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

Diagnostic criteria for ALS:
Clinically significant ALS is diagnosed:
in the presence of clinical signs lesions of the upper motor neuron (for example, spastic paraparesis) and lower motor neuron at the bulbar and at least two spinal levels (damage to the arms, legs)
or
in the presence of clinical signs of damage to the upper motor neuron at two spinal levels and the lower motor neuron at three spinal levels
Clinically probable ALS is diagnosed by:
with damage to the upper and lower motor neurons at least at two levels of the central nervous system
and
if there are symptoms of an upper motor neuron lesion above the levels of a lower motor neuron lesion
Clinically possible ALS:
lower motor neuron symptoms plus upper motor neuron symptoms in 1 region of the body
or
upper motor neuron symptoms in 2 or 3 regions of the body, such as monomelic ALS (ALS manifestations in one limb), progressive bulbar palsy
Suspicion of ALS:
if there are symptoms of damage to the lower motor neuron in 2 or 3 regions, such as progressive muscular atrophy or others motor symptoms

NB!!! The regions of the body are divided into:
oral-facial
brachial
crural
thoracic
trunk

ALS confirmation criteria:
fasciculations in one or more areas
a combination of signs of bulbar and pseudobulbar palsy
rapid progression with the development of a lethal outcome within a few years
absence of oculomotor, pelvic, visual disturbances, loss of sensitivity
non-myotomic distribution muscle weakness(eg, simultaneous development of weakness in the biceps brachii and deltoid muscles; both are innervated by the same spinal segment, albeit by different motor nerves)
no signs of simultaneous damage to the upper and lower motor neurons in one spinal segment
non-regional distribution of muscle weakness (for example, if paresis first developed in right hand, usually further involved in the process right leg or left hand, but not left leg)
unusual course of the disease over time (ALS is not characterized by onset before age 35, duration more than 5 years, absence of bulbar disorders after one year of illness, indications of remission)

ALS exclusion criteria
For the diagnosis of amyotrophic lateral sclerosis, the absence of:
sensory disorders, primarily loss of sensitivity (possible paresthesia and pain)
pelvic disorders - disorders of urination and defecation (their attachment is possible in the final stages of the disease)
visual disturbances
autonomic disorders
parkinson's disease
dementia of the Alzheimer's type
ALS-like syndromes

EMG(electromyography) helps in confirming clinical findings and findings.
Characteristic changes and findings on EMG in ALS:
fibrillation and fasciculations in the muscles of the upper and lower extremities, or in the extremities and head region
a decrease in the number of motor units and an increase in the amplitude and duration of the action potential of motor units
normal conduction velocity in nerves innervating slightly affected muscles, and a decrease in conduction velocity in nerves innervating severely affected muscles (the speed should be at least 70% of the normal value)
normal electrical excitability and speed of impulse conduction along the fibers of sensory nerves

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

TREATMENT

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.

The basis of treatment is symptomatic therapy:
Physiotherapy.
Physical activity. The patient should, to the extent possible, maintain physical activity As the disease progresses, there is a need for a wheelchair and other special devices.
Diet. Dysphagia creates a danger of food entering the Airways Sometimes there is a need for food through a tube or in a gastrostomy.
The use of orthopedic appliances: cervical collar, various splints, devices for gripping objects.
With cramps (painful muscle spasms): quinine sulfate 200 mg twice a day, or phenytoin (Difenin) 200-300 mg / day, or carbamazepine (Finlepsin, Tegretol,) 200-400 mg / day, and / or vitamin E 400 mg twice a day, as well as magnesium preparations, verapamil (Isoptin).
With spasticity: baclofen (Baclosan) 10 - 80 mg / day, or tizanidine (Sirdalud) 6 - 24 mg / day, as well as clonazepam 1 - 4 mg / day, or memantine 10 - 60 mg / day.
When drooling atropine 0.25-0.75 mg three times a day, or hyoscine (Buscopan) 10 mg three times a day.
When unable to eat due to a violation of swallowing, a gastrostomy is imposed or a nasogastric tube is inserted. early holding percutaneous endoscopic gastrostomy prolongs the life of patients by an average of 6 months.
For pain syndromes use the entire arsenal of analgesics. Including narcotic analgesics in the final stages.
Sometimes some temporary improvement bring anticholinesterase drugs (neostigmine methyl sulfate - neostigmine).
Cerebrolysin in high doses(10-30 ml IV drip for 10 days in repeated courses). There are a number of small studies showing the neuroprotective efficacy of cerebrolysin in ALS.
Antidepressants: Sertalin 50 mg/day or Paxil 20 mg/day or Amitriptyline 75-150 mg/day side effects- it causes dryness in the mouth, respectively, reduces hypersalivation (salivation), which often torments patients with ALS).
When respiratory disorders : artificial ventilation lungs in a hospital setting, as a rule, is not carried out, but some patients purchase portable ventilators and carry out mechanical ventilation at home.
Developments are underway for the use of growth hormone, neurotrophic factors in ALS.
Recent times Stem cell therapies are under active development. This method promises to be promising, but is still at the stage of scientific experiments.

FORECAST

amyotrophic lateral sclerosis is a fatal disease. The average life expectancy of ALS patients is 3-5 years, however, 30% of patients live 5 years, and about 10-20% live more than 10 years from the onset of the disease.

Unfavorable prognostic signs– elderly age and bulbar disorders (after the appearance of the latter, patients live no more than 1-3 years).

PREVENTION

There is no specific prophylaxis.

Reference. Apart from lateral sclerosis amyotrophic type, the group of slow infections of the CNR includes such rare diseases as spongiform encephalopathies, kuru, or "laughing death", Gerstmann-Streusler disease, amyotrophic leukospongiosis, Van Bogart's subacute sclerosing panencephalitis.

The lethality of the disease will depend on the stage of progression. Despite the large amount of damage to the body, amyotrophic lateral sclerosis does not affect the mental abilities of a person.

Disease classification

The disease is divided into the following forms:

• sclerosis that occurs in the lumbosacral region;
• cervicothoracic lesion;
• damage to a peripheral neuron in the brain stem, referred to in medicine as a bulbar species;
• damage to the central motor neuron.

It is also possible to divide amyotrophic lateral sclerosis into types according to the rate of development of the disease and the presence of certain neurological symptoms.

1. With the Marian form, the symptoms of the disease appear early, but the course of the disease is slow.
2. Sporadic or classic ALS is diagnosed in most patients. The disease develops according to the standard scenario, the rate of progression is average.
3. Charcot's disease family type It is characterized by a genetic predisposition, and the first symptoms appear rather late.

Causes of amyotrophic lateral sclerosis

The disease develops due to the death of motor neurons. These nerve cells control motor ability person. As a result, there is a weakening muscle tissue and its atrophy.

Reference. In 5-10% of cases, ALS can be transmitted at the genetic level.

In other cases, amyotrophic lateral sclerosis occurs spontaneously. The disease is still being studied, and scientists can name the main causes of ALS:

Who can develop this disease, this is evidenced by risk factors:

• • 1. 10% of ALS patients inherited the disease from their parents.
    2. Most often, the disease affects people aged 40 to 60 years.
    3. Men are diagnosed with the disease more often.

Environmental factors that increase the risk of developing amyotrophic lateral sclerosis:

• • 1. According to statistics, ALS patients were active smokers in the past, thus, smokers have an increased risk of developing the disease.
    2. Penetration of lead vapors into the body when working in hazardous industries.

Symptomatic manifestations

Any form of Charcot's disease has common unifying features:

• • • the organs of movement cease to function;
    • there are no disturbances in the sense organs;
    • defecation and urination occur normally;
    • the disease progresses even with treatment, over time the person becomes completely immobilized;
    • at times there are convulsions, accompanied by severe pain.

The role of neurology in diagnosis

As soon as a person notices changes in the muscle system, you should immediately contact a neurology specialist with a neurologist. Unfortunately, the diagnosis of amyotrophic lateral sclerosis on early stages disease is not often diagnosed. Only after a certain period of time can one accurately name this particular disease.

The task of the neurologist is to collect a detailed medical history of the patient and his neurological status:

• • 1. Reflexes appear.
    2. The strength of muscle tissue.
    3. Muscle tone.
    4. visual and tactile status.
    5. Movement coordination.

On the early stages The symptoms of ALS are similar to those of other neurological disorders. The doctor will refer the patient, first of all, to the following research methods:

• • 1. Electroneuromyography.
    2. Magnetic resonance imaging.
    3. Study of urine and blood. This method allows you to exclude the presence of other diseases.
    4. A biopsy of muscle tissue is performed in order to exclude muscle pathologies.

There is no specific therapy for the disease. ALS has a significant difference from a similar disease - multiple sclerosis. Amyotrophic lateral sclerosis does not proceed in stages of exacerbation and remission, but is characterized by a steadily progressive course.

Amyotrophic lateral sclerosis (other names for ALS, Charcot's disease, Lou Gehrig's disease) is a progressive pathology of the nervous system that affects about 350 thousand people worldwide, with about 100 thousand new cases diagnosed annually. This is one of the most common movement disorders leading to serious consequences and lethal outcome. What factors influence the development of the disease, and is it possible to prevent the development of complications?

ALS Diagnosis - What is it?

For a long time, the pathogenesis of the disease was unknown, but with the help of numerous studies, scientists managed to obtain necessary information. The mechanism of the development of the pathological process in ALS is a mutation in violation of the complex system of recycling of protein compounds that are in nerve cells brain and spinal cord, as a result of which they lose to regeneration and normal functioning.

There are two forms of ALS - hereditary and sporadic. In the first case, the pathology develops in people with a burdened family history, in the presence of amniotic lateral sclerosis or frontotemporal dementia in close relatives. The vast majority of patients (in 90-95% of cases) are diagnosed with a sporadic form of amyotrophic sclerosis, which occurs due to unknown factors. A connection has been established between mechanical injuries, military service, intense workloads and exposure harmful substances on the body, but talk about exact reasons ALS is yet to be said.

Interesting: The most famous patient with amyotrophic lateral sclerosis today is the physicist Stephen Hawking - the pathological process developed when he was 21 years old. On the given time he is 76 years old, and the only muscle he can control is the cheek muscle.

ALS symptoms

As a rule, the disease is diagnosed in adulthood (after 40 years), and the risk of getting sick does not depend on gender, age, ethnic group or other factors. Sometimes there are cases of a juvenile form of pathology, which is observed in young people. In the early stages of ALS, there are no symptoms, after which the patient begins to have mild cramps, numbness, twitching, and muscle weakness.

Pathology can affect any part of the body, but usually (in 75% of cases) it begins with the lower extremities - the patient feels weakness in ankle joint, because of which he begins to stumble when walking. If the manifestation of symptoms begins with the upper limbs, the person loses flexibility and strength in the hands and fingers. The limb becomes thinner, the muscles begin to atrophy, and the hand becomes like a bird's paw. One of characteristic features ALS - asymmetric manifestations, that is, first the symptoms develop on one side of the body, and after a while on the other.

In addition, the disease can proceed in a bulbar form - affect the speech apparatus, after which there are difficulties with swallowing function, appears severe salivation. The muscles responsible for chewing function and facial expressions are affected later, as a result of which the patient loses facial expressions - he is not able to puff out his cheeks, move his lips, sometimes he stops holding his head normally. Gradually, the pathological process spreads to the whole body, complete paresis of the muscles and immobilization occurs. Pain in people diagnosed with ALS almost never occurs - in some cases, they appear at night, and are associated with poor mobility and high spasticity of the joints.

Table. The main forms of pathology.

Amyotrophic Lateral Sclerosis (ALS) is an incurable, progressive disease of the central nervous system in which the patient has damage to ... diseases include cramps (painful muscle spasms), lethargy and weakness in the area distal departments hands, bulbar disorders

The above signs can be called averaged, since all patients with ALS manifest themselves individually, so highlight certain symptoms quite difficult. Early symptoms can be invisible both to the person himself and to others - there is a slight clumsiness, awkwardness and ductility of speech, which is usually attributed to other reasons.

Important: cognitive functions in ALS practically do not suffer - moderate memory impairment and impaired mental capacity are observed in half of the cases, but from this general state patients worsen even more. Because of the awareness of their own situation and the expectation of death, they develop severe depression.

Diagnostics

Lateral diagnostics amyotrophic syndrome complicated by the fact that the disease is rare, so not all doctors can distinguish it from other pathologies.

If the development of ALS is suspected, the patient should go to see a neurologist, and then undergo a series of laboratory and instrumental studies.

As additional methods diagnosis can be used muscle biopsy, lumbar puncture and other studies that help get complete picture state of the body and make an accurate diagnosis.

For reference: currently developing new diagnostic methods, allowing to detect ALS in the early stages - an association has been found between the disease and an increase in the level of p75ECD protein in the urine, but so far this indicator does not allow to judge the development with high accuracy.

ALS treatment

There are no therapeutic methods that can cure ALS - treatment is aimed at prolonging the life of patients and improving its quality. The only thing medicine, which allows you to slow down the development of the pathological process and delay the death - the drug "Rilutek". It is mandatory prescribed to people with this diagnosis, but in general it has practically no effect on the condition of patients.

With painful muscle spasms, muscle relaxants and anticonvulsants are prescribed, with the development of an intense pain syndrome, strong analgesics, including narcotic ones. Patients with amyotrophic lateral sclerosis often have emotional instability (sudden, unreasonable laughter or crying), as well as manifestations of depression - to eliminate data similar symptoms appointed psychotropic drugs and antidepressants.

To improve muscle condition and motor activity applied physiotherapy and orthopedic appliances, including neck collars, tires, devices for capturing objects. Over time, patients lose the ability to move independently, as a result of which it is necessary to use wheelchairs, special lifts, ceiling systems.

HAL therapy. Used in clinics in Germany and Japan. It improves the patient's mobility. The method of treatment slows down muscle atrophy, but does not affect the rate of death of motor neurons and the patient's life expectancy. HAL therapy involves the use of a robotic suit. It picks up signals from the nerves and amplifies them, causing the muscles to contract. In such a suit, a person can walk and perform all the necessary actions for self-service.

As the pathology develops, the swallowing function is disturbed in patients, which prevents normal food intake and leads to a deficiency of nutrients, exhaustion and dehydration. To prevent these disorders, patients are given a gastrostomy or a special probe is inserted through the nasal passage. As a result of the weakening of the muscles of the pharynx, patients stop talking, and they are advised to use electronic communicators to communicate with others.

In the last stages of ALS, the muscles of the diaphragm atrophy in patients, which makes breathing difficult, not enough air enters the blood, shortness of breath is observed, constant fatigue, restless sleep. At these stages, a person, if indicated, may need non-invasive ventilation of the lungs using a special device with a mask connected to it.

If you want to know in more detail what it is, you can read an article about it on our portal.

A good result in eliminating the symptoms of amyotrophic lateral sclerosis is massage, aromatherapy and acupuncture, which promote muscle relaxation, blood and lymph circulation, reduce anxiety and depression.

An experimental treatment for ALS is the use of growth hormone and stem cells, but given area medicine has not yet been fully studied, so talking about any positive results not yet possible.

Important: the condition of people suffering from amyotrophic lateral sclerosis largely depends on the care and support of loved ones - patients require expensive equipment and round-the-clock care.

Forecast

The prognosis for ALS is unfavorable - the disease leads to death, which usually occurs from paralysis of the muscles responsible for breathing. Life expectancy depends on clinical course diseases and conditions of the patient's body - with the bulbar form, a person dies in 1-3 years, and sometimes death occurs even before the loss of motor activity. On average, patients can live 3-5 years, 30% of patients live more than 5 years and only 10-20% live more than 10 years. At the same time, medicine knows cases when the condition of people with this diagnosis spontaneously stabilized and their life expectancy did not differ from the life expectancy of healthy people.

There are no preventive measures to prevent amyotrophic lateral sclerosis, since the mechanism and causes of the development of the disease are practically not studied. When the first symptoms of ALS appear, it is necessary to contact a neurologist as soon as possible. Early use of symptomatic treatment methods makes it possible to increase the life expectancy of the patient for a period of 6 to 12 years and significantly alleviate his condition.

Video - ALS (Amyotrophic Lateral Sclerosis)

Slow down the progression of the disease and prolong the period of the disease in which the patient does not need constant outside care.
Reduce the severity of individual symptoms of the disease and maintain a stable level of quality of life.

Indications for hospitalization

Primary examination.
Percutaneous endoscopic gastrostomy.

Ethical and deontological aspects of management of patients with amyotrophic lateral sclerosis

A patient can be diagnosed with ALS only after a thorough examination, which is not always a single one. Sometimes it's necessary re-holding EMG. According to the Helsinki Convention on Bioethics (1997), doctors must inform patients with incurable diseases about the diagnosis, which requires decisions related to impending death. The diagnosis of ALS should be reported in a sensitive manner, while emphasizing the variability in disease progression. There are cases of extremely slow progression (with homozygous carriage of the D90A mutation) and in isolated sporadic cases. It should be remembered that 7% of patients live longer than 60 months. The neurologist needs to establish close contact with the patient and his family and report the diagnosis in the presence of relatives and friends, in a calm, comfortable environment for the patient, without haste. The patient's questions should be answered in an anticipatory way. emotional reaction. You can not tell the patient that nothing can help him. On the contrary, he should be persuaded to see a neurologist or specialized center every 3-6 months It is necessary to focus on the fact that individual symptoms respond well to treatment.

Drug therapy

Pathogenetic therapy

The only drug that significantly slows the progression of ALS is riluzole, a presynaptic inhibitor of glutamate release. The use of the drug allows you to extend the life of patients by an average of 3 months. Riluzole is indicated in patients with definite or probable ALS who have excluded other probable causes lesions of peripheral and central motor neurons, with a disease duration of less than 5 years, forced vital capacity lungs (FZHOL) more than 60%, without tracheostomy. Patients with possible ALS lasting less than 5 years, FVC<60% и трахеостомией для предотвращения аспирации без зависимости от аппарата ИВЛ рилузол, согласно мнению экспертов, также может быть показан. Препарат назначают в дозе 100 мг в день вне связи с приёмом пищи. Каждые 3 мес необходимо мониторировать уровень АЛТ, АСТ и ЛДГ из-за риска развития лекарственного гепатита. Концентрация рилузола в сыворотке крови несколько ниже у мужчин и курильщиков, поэтому рекомендуется уменьшить количество выкуриваемых сигарет или прекратить курение. Рилузол следует принимать пожизненно.

Attempts were made to pathogenetic therapy of ALS with other drugs, but all of them, including neutrotrophic factors, xaliproden (a low molecular weight ligand of neurotrophic factor receptors), anticonvulsants (lamotrigine, gabapentin, topiramate, etc.), metabolic agents (gangliosides, branched amino acids, creatine), antiparkinsonian drugs (selegiline), antibiotics (cyclosporine), antioxidants (acetylcysteine, vitamin E), calcium channel blockers (nimodipine, verapamil), immunomodulators (interferon beta, immunoglobulin) and others, were ineffective.

There are no convincing data on the effectiveness of high doses of Cerebrolysin, although its use led to a general activation of patients.

Palliative Care

Methods for correcting the main symptoms of ALS are presented in Table. 34-5.

Table 34-5. Palliative care for ALS

An improvement in the emotional state on the scale of quality of life in ALS ALSAQ-40 and, as a result, the general activation of patients was detected in the treatment of patients with a 1% solution of Semax (methionyl-glutamyl-histidyl-phenylalanylprolyl-glycyl-proline) intranasally at a dose of 12 mg / day (two 10-day course with a break of 2 weeks). This drug from the group of nootropics does not affect the progression of the disease.

Metabolic myotropic drugs that can be prescribed for ALS include carnitine capsules, levocarnitine (oral solution) or trimethylhydrazinium propionate (intravenous drip), as well as creatine, depending on the variant of the disease. However, a recent clinical trial of creatine did not confirm its positive effect on the decrement of muscle strength, identified in the original study. In the segmental-nuclear variant of ALS with a lumbar onset, pronounced myolysis occurs and serum CPK levels increase, therefore, it is believed that the use of carnitine preparations in such cases is safer from - due to the risk of developing acute renal failure during treatment with creatine. With a significant decrease in motor activity, myotropic drugs are canceled, since otherwise they will increase muscle catabolism. For the same reason, it is not recommended to prescribe nandrolone, which, in addition to the indicated negative effect, leads to the development of impotence. Also, with ALS, it is customary to prescribe multivitamin preparations or combinations of B vitamins with thioctic acid preparations. Any positive effect of myotropic and vitamin preparations on the course of the disease has not been established.

A complex of motor disorders in patients with motor neuron disease requires the use of orthopedic correction methods. In addition, in specialized centers abroad there are sets of utensils and other household appliances that are convenient for patients. Patients should be explained that the use of these aids does not "stick » they are labeled “disabled”, but, on the contrary, it allows to reduce the difficulties associated with the disease, keep the sick in the circle of public life, and also improve the quality of life of their relatives and friends.

It has been shown that the use of gymnastics for 15 minutes twice a day slows down the decrement of muscle strength and contributes to the correction of peripheral fatigue in ALS. Some authors also consider drug methods used in multiple sclerosis, which make it possible to correct fatigue of the central genesis in ALS (see Tables 34-5).

One of the most important areas of palliative care is the treatment of bulbar and pseudobulbar disorders. They occur at the onset of the disease with progressive bulbar palsy (bulbar form of ALS) and join in 67% of cases with spinal debuts of ALS.

Saliva production in ALS is less than in healthy individuals. At the same time, as dysphagia develops, salivation develops due to the inability to swallow and spit out excess saliva. Palliative management of salivation is important because this symptom contributes to the development of opportunistic infections in the oral cavity, which in turn increases the manifestations of dysphagia and dysarthria, increases the risk of developing aspiration pneumonia, and, finally, creates emotional discomfort and increases depression, since the image of a person with saliva flowing from the mouth associated in laymen with dementia, which patients with motor neuron disease do not suffer from.

In addition to amitriptyline (see Tables 34-5), methods to combat salivation include the use of portable suction, subcutaneous injections of botulinum toxin at a dose of up to 120 units per parotid gland and up to 20 units per submandibular gland, irradiation of the parotid salivary glands, application of fluorouracil on the salivary glands, tympanotomy. All of these treatments are considered to be inferior to amitriptyline therapy, although comparative clinical trials have not been conducted. Salivation is only an integral part of such a symptom as oral hypersecretion, which is caused by a violation of the sanitation of the tracheobronchial tree. Correction of dehydration in patients with dysphagia and nutritional insufficiency is carried out using infusions of 5% glucose, but not sodium chloride, to prevent central pontine myelinolysis, manifested by acute vestibular syndrome in the presence of pre-existing bulbar disorders.

The earliest symptom of this group is dysarthria. It can be spastic and accompanied by nasophonia in the classic and pyramidal variants of ALS, or sluggish and accompanied by hoarseness in the segmental nuclear variant. Dysarthria, unlike dysphagia, is not a life-threatening symptom, but it significantly impairs the patient's quality of life and limits his ability to participate in public life. Dysarthria in ALS with the presence of deep tetraparesis significantly worsens the quality of life of people who care for the patient, due to the difficulties in mutual understanding between the patient and the relative that arise in this case. However, dysarthria is the most difficult to treat.

Dysphagia is a fatal symptom of motor neuron disease, as it leads to the development of alimentary insufficiency (cachexia), secondary immunodeficiency, which simultaneously increases the risk of developing aspiration pneumonia and opportunistic infections. At the initial stages, frequent sanitation of the oral cavity is carried out, and then the consistency of food is changed.

The patient should be explained that food should always be taken while sitting with the head upright in order to ensure the most physiological act of swallowing and to prevent the development of aspiration pneumonia. From the earliest stages of dysphagia, a conversation is conducted with the patient about the need to perform percutaneous endoscopic gastrostomy. It has been shown that it improves the condition of ALS patients and prolongs their life.

This operation is indicated for a decrease in body weight of more than 2% per month in the presence of dysphagia; a pronounced slowdown in the act of swallowing (taking a bowl of porridge for more than 20 minutes); severe restriction of fluid intake with the threat of dehydration (less than 1 liter of fluid per day); the presence of hypoglycemic syncope; FVC >50%.

Contraindication to endoscopic gastrostomy is a decrease in FVC<50%, поскольку во время операции при раздувании желудка возможна острая дыхательная недостаточность из-за воздействия на диафрагму и плевру с включением пульмонокардиального рефлекса. Перед операцией необходимо провести исследование трофического статуса пациента и назначить пероральную искусственную питательную смесь, чтобы предотвратить нарушения заживления послеоперационной раны на фоне иммунодефицита, а также антибиотики. к сожалению, пациенты с БАС редко соглашаются на проведение гастростомии в силу эмоциональных проблем, обусловленных невозможностью принимать пищу через рот. После операции проводят энтеральное питание искусственными питательными смесями в зависимости от трофического статуса и питательных потребностей больного, а также жидкими пищевыми продуктами (бульон, кисель в объёме до 400 мл) . При отказе от гастростомии проводят периодическое зондовое кормление искусственными питательными смесями с повышенным содержанием углеводов, парентеральное и ректальное питание. Назначаются эубиотики и пробиотики, растительные слабительные и большое количество жидкости.

The main fatal symptom of ALS is respiratory failure, which occurs as a result of paresis and atrophy of the diaphragm and auxiliary respiratory muscles, or degeneration of the respiratory center of the medulla oblongata. First of all, they join with progressive bulbar palsy, diffuse and thoracic debut of ALS. In the latter case, they come faster than with the cervical debut, due to the initial defeat of the auxiliary, and then the main respiratory muscles. With the cervical debut of ALS, the weakness of the main respiratory muscles, as a rule, is compensated for a long time by the auxiliary function. ALS patients develop restrictive respiratory failure associated with a decrease in the ventilated surface of the lungs, which subsequently turns into restrictive-obstructive due to a violation of the passage of the tracheobronchial secret. With the bulbar debut of ALS, the reverse situation occurs, when obstructive respiratory failure becomes mixed due to the addition of a restrictive component.

Early signs of respiratory problems are symptoms such as vivid dreams, morning fatigue, sleep dissatisfaction, and daytime sleepiness. To detect early respiratory disorders, spirography and polysomnography are performed. In the presence of sleep apnea, fluoxetine 20 mg at night is prescribed for 3 months. In the future, it is recommended to use intermittent non-invasive ventilation (BiPAP) devices. Unfortunately, these devices are expensive and therefore inaccessible. The duration of sessions ranges from 2 hours for mild disorders to 20 hours, including night time, for severe ones. Peakfluometry, determination of blood gases, oxygen therapy are carried out. It has been shown that non-invasive ventilation of the lungs, started before the fall of FVC<60%, может продлить жизнь при БАС на 1 год. Гипербарическая оксигенация не эффективна. При потребности во вспомогательном дыхании свыше 20 ч ставят вопрос о переходе на инвазивную ИВЛ.

The need for tracheostomy and mechanical ventilation is a signal for the approach of death. As arguments against mechanical ventilation in motor neuron disease, one can consider the improbability that the patient will be removed from the device, technical difficulties and the high cost of caring for a patient dependent on the ventilator, the development of extramotor disorders in patients who are on a ventilator (dementia, cerebellar, extrapyramidal, sensory, pelvic disorders), as well as postresuscitation complications (posthypoxic encephalopathy, pneumonia, deep vein thrombosis of the lower extremities, bedsores). In the United States, the cost of caring for a ventilated patient at home is $200,000 per year. Arguments for ventilating are the desire of some patients to prolong their lives, as well as rare cases of preservation of cognitive functions and even partial performance in a number of ALS patients after their transfer to ventilators. In Japan, 80% of patients with ALS are transferred to mechanical ventilation, in the USA - 10%, in the UK - 1%. In no country in the world, IVL is included in medical insurance, it is carried out only at the expense of the patient's family at home or in a hospice. In addition, a transfer to a ventilator in ALS is carried out only if the patient, in the presence of a lawyer and legal representative, has stipulated the conditions for disconnecting from the device.

Clinical indications for transfer to mechanical ventilation are isolated bulbar syndrome with respiratory disorders or isolated spinal respiratory failure with tetraparesis, but without bulbar disorders. In the presence of tetraparesis and bulbar disorders, i.e. “locked-in syndrome”, transfer to mechanical ventilation is not shown. An emergency transfer to a ventilator, if it is impossible to receive instructions from the patient about further tactics, is not carried out.

Non-drug therapy

There are no specific regimen recommendations for ALS. It is believed that excessive physical activity, including sports, is not indicated, since such a lifestyle before the development of the disease is associated with the risk of its development. Food should be sufficient, high-calorie, mechanically and thermally sparing and varied.

FURTHER MANAGEMENT

After the initial or re-final examination, which establishes the diagnosis of ALS, patients should remain under outpatient observation (once every 3-6 months), and they need to be gradually provided with advisory assistance as new symptoms appear. Treatment with myotropic metabolic drugs and vitamin therapy is carried out in courses, other drugs are taken constantly. It is recommended to perform spirography every 3 months and, if the patient is taking riluzole, after 3 months, and then every 6 months to determine the activity of ALT, AST and LDH. In the presence of dysphagia and alimentary insufficiency, the trophic status and blood glucose levels should be assessed. To perform percutaneous endoscopic gastrostomy, the patient is hospitalized for a short time in a hospital, where, after the operation, the optimal volume and frequency of enteral nutrition are selected. If the patient refuses this operation, he can be hospitalized for a short period to receive fluid therapy to correct dehydration or intermittent tube feeding. If intermittent non-invasive ventilation is not available to the patient and tracheostomy with ventilator transfer cannot be performed for legal or medical reasons, oxygen therapy is indicated. If oxygen therapy in a volume of 2-4 l / min does not eliminate shortness of breath at rest while lying or sitting, the appointment of narcotic analgesics is indicated (morphine at a dose of 5 mg / day in tablets, or in the form of a rectal suppository, or subcutaneously 1 ml of a 0.1% solution; chlorpromazine 25 mg/day tablet or lorazepam 2 mg/day tablet; the latter two can also be given as an oral solution or rectal suppository). The patient may be at home or placed in a hospice.

FORECAST

The prognosis for ALS is always poor, with the exception of rare hereditary cases associated with certain mutations in the superoxide dismutase-1 gene (D90A and some others). The duration of the disease with a bulbar debut is on average 2.5 years, and with a spinal debut - 3.5 years.

Only 7% of patients live longer than 5 years. Reception of riluzole can prolong the life of the patient by an average of 3 months. The duration of the disease is shorter with the bulbar debut of ALS (progressive bulbar palsy), with an onset age of less than 45 years, and with a rapid type of progression according to the ALS-FRS-R scale (loss of more than 12 points per year).