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Spinal Werdnig-Hoffmann amyotrophy is called hereditary pathology nerves, which affects the part of them that controls the skeletal muscles. It is characterized by weakness of all the muscles in the body at once. More than half nerve cells, which control the muscles, are located in the spinal cord. That is why the disease is called "spinal". It is also called “muscular” because of the detrimental effect on the muscles: they do not receive any signals from these same nerves. "Atrophy" is medical term, which denotes the depletion or shrinkage of what is not being used. Here it refers to inactive muscles. A person with such a disease has no way to sit, move, or even take care of himself. It is impossible to cure it. By conducting prenatal diagnosis, you can prevent the birth of a baby with this disease. Here we will talk about how this pathology is inherited, what are its manifestations, and also about how you can help a sick person.

Spinal Werdnig-Hoffmann amyotrophy is named after the two scientists who first described it. In the second half of the 19th century, they proved the morphological essence of the disease. At first, both scientists believed that this pathology had only one form. But already in the 20th century, scientists Kukelberg and Welander discovered its other clinical form, with genetic cause, similar to the one discovered by Werdnig and Hoffman. Several are now known clinical forms spinal amyotrophy. They are united by a common hereditary defect.

This pathology is hereditary. It is based on a mutation on the fifth chromosome. Mutates the gene that synthesizes the SMN protein. This protein is necessary for motor neurons to develop exactly as they should. Should the fifth chromosome mutate, and this will negatively affect motor neurons, preventing their development, or even completely destroying them. As a result, the muscle cannot receive control signals from the nerves, and therefore cannot function. It turns out that not a single movement associated with it is performed.

The mutated gene has an autosomal recessive mode of inheritance. The phrase is deciphered as follows: for the development of spinal amyotrophy, it is necessary that both parents have a mutant gene. Simply put, the disease will not develop if at least one of the parents was not a carrier of the mutated gene. At the same time, they themselves do not get sick: people have paired genes, and the healthy gene dominates in the father and mother of the child. In this case, a sick baby is born in about a quarter of cases. Scientists estimate that about 2% of living people are carriers of the gene with this mutation.

Classification

Three types of this pathology are known.

1. The most severe, manifesting itself before the rest.
2. Medium.
3. The easiest, manifested at a very late age.

According to some doctors, there is another variety: moderate/mild SMA, which appears already in an adult.

It is worth noting that in addition to spinal Werdnig-Hoffman amyotrophy, there are other types of SMA that differ in symptoms and types of inheritance. They are listed in the table below.

Table number 1. Types of SMA.

Symptoms of pathology

The congenital type of the disease (SMA I) begins to appear before the baby is six months old. Prior to this, such a child may move sluggishly. It is not so rare that spinal amyotrophy in a baby can be noticed even at the very beginning of the postembryonic period of his life - his deep reflexes fade away:

• the baby's cry is not loud enough;
• he has difficulty suckling;
• he can't hold his head.

It is possible to determine such a pathology in an infant from the first days of life.

If this becomes noticeable later, which rarely happens, the baby can learn to hold his head, or even sit, but pathology quickly reduces such skills to zero. The following is also typical:

• early speech problems;
• deterioration of the pharyngeal reflex;
• fascicular twitching of the tongue.

This type of pathology can be attached to oligophrenia, as well as pathologies of skeletal development:

• deformations chest(funnel-shaped / keeled form);
• curvature of the spine (scoliosis);
• articular contractures.

Often and others congenital diseases. For example:

• hemangiomas;
• hydrocephalus;
• clubfoot;
• dysplasia hip joints;
• cryptorchidism.

SMA I the most "harmful": it is accompanied by developing paralysis, as well as paresis of the muscles responsible for breathing. Because of the latter, it develops respiratory failure which may even cause the patient to die. A swallowing disorder can cause food to enter the Airways and development of aspiration pneumonia. It can also lead to death.

SMA II begins to appear after the baby is six months old. At this age, the baby is already satisfactorily developed, he can stand, hold his head, sit down, roll over. However, almost never a sick baby has time to master the skills of walking. In most cases, this disease manifests itself after the baby suffers any acute infectious pathology. For example, food poisoning.

When SMA II only begins to manifest itself, the baby has peripheral paresis in the legs, which then quickly appear in the arms, in the trunk. Diffuse muscle hypotonia appears, deep reflexes begin to disappear. You can also notice the following:

• tendon contractures;
• tremor of fingers;
• fasciculations (involuntary twitching) of the tongue.

Important! Later, bulbar syndrome begins to appear, respiratory failure develops. Due to the slow development of this type of SMA compared to the congenital form, the affected individual usually lives to the age of fifteen.

SMA III, it is Kugelberg-Welander amyotrophy - the least harmful type of spinal amyotrophy. It begins to appear when the child is two years old. Sometimes it can be asymptomatic even up to 30 years. However, in this case, the patient is no longer a child, which, however, does not make him healthier. With SMA III, the development of the psyche is not delayed, the patient can move for a long time without assistance. He even has a chance to be able to take care of himself even in extreme old age.

SMA IV, she is the adult form of spinal amyotrophy, is a slowly developing pathology. It usually starts after the person is 35 years old. This form, if it shortens life, is insignificant. On the other hand, the patient has the following picture:

• weak proximal muscles;
• fasciculations;
• deterioration of tendon reflexes;
• loss of the ability to walk.

The electromyogram shows "palisade rhythm" - spontaneous rhythmic activity. So you can identify the pathology of the anterior spinal horns. If we conduct a morphological study of muscle biopsy specimens, one can notice atro- and hypertrophied fibers of the first and second types. Small round fibers also accumulate, which are interspersed with hypertrophied fibers - this is a "bundle" atrophy. If a pathomorphological study is carried out, swelling / wrinkling / atrophy of the motor neurons of the spinal anterior horns becomes noticeable, and quite often also the nuclei of the nerves that exit the brain.

How is this pathology diagnosed?

To make a correct diagnosis, the neurologist must have information about the age at which the first symptoms appeared in a person, how quickly they progress. He also needs to find out neurological data. Moreover, the most important thing here is information about whether the patient has peripheral movement disorders along with full preservation of sensitivity. It is also important for a neurologist to find out if the patient has congenital abnormalities, bone deformity. Werdnig-Hoffman amyotrophy can also be diagnosed by a neonatologist. With the help of a differential technique, it is possible to diagnose:

• myopathy;
• developing Duchenne muscular dystrophy;
• amyotrophic lateral sclerosis;
• syringomyelia;
• polio;
• sluggish child syndrome;
• metabolic pathologies.

To confirm the results of the diagnosis, do electroneuromyography. This is the name of the examination of the neuromuscular apparatus. It allows you to detect the changes needed to exclude the primary muscular type of the disease, as well as to verify the presence of motor neuron disease. Biochemical analysis there is too little blood to detect any serious increase in creatine phosphokinase levels, which occurs during the development of muscle dystrophy. An MRI/CT of the spine can occasionally detect atrophy of the anterior horns of the spinal cord, but this technique can be used to make sure that there is no other spinal disease.

The diagnosis of Werdnig-Hoffmann amyotrophy is finally made only when muscle biopsy data and DNA analysis are obtained. With the help of a morphological examination of a muscle biopsy, it is possible to identify pathognomonic fascicular atrophy of muscles, alternating with zones of atrophy of myofibrils and healthy tissue, individual hypertrophied myofibrils, as well as places of connective growths. Mandatory genetic studies include direct and indirect diagnostics. The direct method makes it possible to identify the heterozygous carriage of a gene aberration, and this is necessary for genetic counseling of relatives of patients, as well as spouses planning the birth of a child. In all this, the quantitative study of the genes of the SMA locus is important.

By conducting a prenatal genetic examination, you can reduce the risk of having a baby suffering from Werdnig-Hoffman amyotrophy. To obtain the genetic material of the fetus, invasive methods for diagnosing the fetus should be used:

• amniocentesis;
• chorion biopsy;
• cordocentesis.

Having found Werdnig-Hoffman amyotrophy in the fetus, the question of abortion should be raised.

Differential method of diagnosing the disease

According to the symptoms, this pathology can be confused with congenital myopathy. This is bad muscle tone. A biopsy is used to rule out muscle hypotension. Acute poliomyelitis is similar to Werdnig-Hoffman spinal amyotrophy. This pathology has a stormy, accompanied by a sharp elevated temperature body and multiple asymmetric paralysis, onset. After a few days, the acute phase of poliomyelitis turns into a recovery phase. With glycogenosis, as well as congenital myopathies, muscle tone also decreases.

But these pathologies differ from spinal amyotrophy in that they are provoked not by gene mutations, but by the following factors:

• metabolic problems;
• carcinoma;
• hormonal disorder.

At the same time, the following should also be excluded:

• Gaucher disease;
• Down syndrome;
• botulism.

How is this pathology treated, as well as how to predict its further course

Today, there is no etiopathogenetic treatment of spinal amyotrophy. Now she is being treated by improving the metabolism in the peripheral nervous system and also in the muscles to simply delay the development of symptoms.

In this case, in different combinations, the means of the following groups are used:

• neurometabolites - drugs produced from the hydrolyzate of porcine brains, gamma-aminobutyric acid, as well as piracetam;
• agents that facilitate the transmission of impulses to the muscles - galantamine, sanguinarine, neostigmine, ipidacrine;
• medicines that improve the trophism of myofibrils - coenzyme Q10, L-carnitine, Cerebrolysin, Cytoflavin, Glutamic acid, ATP, Carnitine chloride, Methionine, Potassium orotate, Tocopherol acetate;
• vitamins B - Milgamma, Neurovitan, Kombilipen;
• anabolics - Retabolil, Nerobol;
• drugs to improve the conduction of impulses between nerves and muscles - Prozerin, Neuromidin, Dibazol, Galantamine;
• medicines to improve blood circulation - a nicotinic acid, scopolamine.

In addition, with spinal amyotrophy, it is useful to do exercise therapy, as well as conduct gentle massage sessions.

Today's technologies are of great help to make life easier for patients and their loved ones. Portable ventilators, as well as automated wheelchairs, help them with this. To improve the mobility of patients, there are various methods of orthopedic correction. But the main prospects for the treatment of SMA lie in the constantly evolving genetics, as well as in the search for opportunities to use genetic engineering to correct genetic diseases.

Anesthesia

If a person, regardless of age, requires surgery, certain precautions must be followed. The entire surgical team must be aware of what constitutes SMA. Most of all it concerns the anesthesiologist.

At the beginning of the development of this pathology in muscle cells that do not receive nerve signals, anomalies sometimes occur due to the attempts of the muscles to “reach out” to the nerves associated with them. Due to such anomalies, muscle relaxants, often used for surgical intervention, may be dangerous. Having an idea about such problems, you can choose safe drugs.

Diet for spinal amyotrophy

At this point, no diet has yet been confirmed to be beneficial for SMA.

According to a large number parents, a diet high in protein or special food supplements can increase the strength of the child's muscles. But, despite the obvious need for good nutrition for a sick child, it has not yet been proven that he needs a particular diet. Moreover, some products can even harm his body.

For example, the amino acid menu is sometimes fraught with even greater problems for those children who have too little muscle tissue in their bodies. According to some experts, with a lack of muscle tissue, it cannot properly process amino acids and then their level in the blood rises too much.

Some children benefit from eating small amounts, more than three or four times a day. You just need to divide for the patient the entire amount of food taken by a healthy peer of the patient per day into several parts.

Among patients with SMA there are overweight people. It is possible that the reason for this lies in a too high-calorie diet, coupled with a lack of movement. If possible, the patient should, with the help of a doctor and a nutritionist, bring his weight back to normal. This is important not only for health and appearance, but also for those who care for such a patient. After all, they help the patient to rise and move every day.

Important! There are doctors who advise taking over-the-counter drugs nutritional supplements. For example, creatine, coenzyme Q10. Research is currently underway on how creatine works in this pathology.

exercise therapy

According to most doctors, comfortable physical activity, if only not to go to extremes, is very beneficial for the well-being and health of the SMA patient.

Joints need to be able to move and not be at risk of injury. At the same time, the range of motion should be maintained in order to keep the joints elastic. At the same time, blood circulation must be maintained. Also, what is most important for children is to keep mobility high in order to explore the environment.

Important! It is best to conduct classes in a pool filled with water having a temperature of 30-32 degrees Celsius. But, firstly, a person with SMA should not swim himself, and secondly, certain safety measures must be observed.

According to some doctors, it is not so necessary to pay a lot of attention to the gradual decrease in the already insufficient number of motor neurons in the body. Research is needed to determine whether this should be taken into account when developing a complex of exercise therapy. The opinions of professionals differ: some believe that it is impossible to overload the body with exercises, while others believe that by doing the gymnastic complex “before you turn blue”, you can force the death of the remaining motor neurons. So, with exercise therapy, accuracy is required and gymnastics must be stopped without bringing yourself to exhaustion.

Occupational and physical therapy programs are useful for people of all ages who want to learn how to make the most of their remaining muscle function, as well as learn how to best cope with everyday tasks.

Now you can find devices that are useful even for kids - for exploring the surrounding space. Little children can be helped by everything that the human genius has come up with to solve this problem, from walkers to orthoses.

Moreover, there are families who independently invent and manufacture their own devices, equipped with special functions. For example, those in which you can change the height so that the child can at least crawl on the floor, even sit on the table.

A person of any age, if he has SMA, significantly benefits from adaptations for solving everyday tasks that do not cause difficulties in healthy people.

The way to prevent this pathology

To prevent Werdnig-Hoffmann amyotrophy in a newborn, parents should undergo a diagnosis of genetic abnormalities in time, and also, while carrying a child, the expectant mother should also conduct a pretonal DNA diagnosis of the baby. If the Werdnig-Hoffman amyotrophy is detected, the question of abortion arises.

How to predict the development of pathology

Now the spinal amyotrophy of Werdnig-Hoffmann is incurable. Forecasts are absolutely unfavorable. If this occurs in a baby in the first days after his birth, he usually dies before he is six months old. If symptoms begin to appear after three months of age, average age such a child is equal to a couple of years. The maximum age to which such a patient can live is eight years. The early childhood type of this pathology progresses much more slowly, and such a child lives to adolescence- fourteen or fifteen years old.

Genetic Werdnig-Hoffmann disease belongs to the group of spinal amyotrophies, inherited in an autosomal recessive manner.

Spinal muscular atrophy (SMA) is characterized by congenital or acquired degenerative changes in the striated muscles, symmetrical muscle weakness of the trunk, limbs, absence or decrease in tendon reflexes while maintaining sensitivity.

Morphological studies detect pathology of motor neurons of the spinal cord, "bundle atrophy" in skeletal muscles with a characteristic alternation of affected fibers and healthy ones.

There is a violation of the conductive function nerve fibers, decreased muscle contractility.
Statistics

1 out of 40-50 people is a carrier of the mutant SMN gene. Pathology appears with a frequency of 1: 6,000 - 10,000 newborns.

Causes of the disease

The main cause of Verdnig Hoffmann's spinal amyotrophy is a mutation of the SMN (survival motor neuron) gene. The motoneuron survival gene is located on chromosome 5, represented by two copies:

• SMNt - telomeric copy, functionally active;
• SMNc - centromeric copy of the gene, partially active.

The product of this gene is the SMN protein involved in the formation and regeneration of RNA.

Protein deficiency causes motor neuron pathology.

In 95% of cases of Werdnig-Hoffmann disease, there is a deletion (loss) of SMNt, which causes a deficiency of the SMN protein. The copy of SMNc only partially compensates for the absence of a telomeric copy.

The number of SMNc copies ranges from 1 to 5. The greater the number of centromeric copies, the more complete the protein is reproduced and the less pronounced the pathology of the neuron.

In addition to the number of SMNc copies, the severity of the disease is determined by the length of the deletion site and gene conversions of 3 more genes: NAIP, H4F5, GTF2H2. The involvement of additional modifying factors explains the clinical diversity of symptoms.

Forms of spinal amyotrophy by Werdnig Hoffmann

I single out such kinds:

• early childhood or SMA 1 - signs of the disease appear before 6 months of age;
• late form or SMA 2 - symptoms appear after 6 months to 1 year.

Symptoms of the disease

SMA 1 and SMA 2 has different symptoms and signs.

Form of spinal amyotrophy Werdnig CMA 1

The first symptoms are detected even during pregnancy by weak fetal movement.

Photo: spinal amyotrophy of Werdnig Hoffmann

From birth, children have respiratory failure, congenital spinal amyotrophy of Werdnig Hoffmann are noted:

• low muscle tone, the child does not hold his head, cannot roll over;
• lack of reflexes;
• violations of sucking, swallowing, twitching of the tongue, fingers, weak crying.

The baby takes the characteristic “frog” position with arms and legs bent at the joints, lying on his stomach. With SMA 1, partial paralysis of the diaphragm- Cofferat's syndrome.

The phenomenon is characterized by difficulty breathing, shortness of breath, cyanosis.

On the side of paralysis, there is a bulging of the chest, and the risk of pneumonia increases.

In infants, deformations of the skeletal system are observed, expressed in the limitation of joint mobility, the appearance of scoliosis, and a change in the shape of the chest.

CMA form 2

The first months of life, children develop normally: they begin to hold their heads, sit, and stand in time.

After 6 months appear first symptoms, usually after an acute respiratory or foodborne infection.

Limbs are affected first., especially the legs, tendon reflexes are reduced.

Then the muscles of the trunk and arms, intercostal muscles, diaphragm are gradually involved in the process, which causes deformation of the chest. The gait changes, acquiring resemblance to a "clockwork doll".

Children become awkward, often fall. Twitching of the tongue, trembling of the fingers are observed.

Course of the disease

SMA 1 characterized by a malignant course. Severe disorders respiratory function, cardiovascular insufficiency often leads to death in the first months of life. Up to 5 years, 12% of patients survive.

SMA 2 also has a severe prognosis, although it proceeds somewhat milder. Lethal outcome is noted at 14-15 years.

Diagnostics

With Verdnik's spinal amyotrophy, the diagnosis consists in conducting a genetic analysis, revealing mutations or deletion of the SMN gene.

If a deletion of the telomeric copy of SMNt is detected, the diagnosis is considered confirmed.

In the absence of a deletion, additional research:

• study of nerve conduction;
• creatine kinase test;
• biopsy of muscle and nerve tissue.

At normal creatine kinase enzyme counts copies of SMNc. In the case of a single copy, the point mutation is identified, making the final decision.

Differential Diagnosis

Similar symptoms are observed with congenital myopathy - a violation of muscle tone.

Completely exclude muscle hypotension allow the results of the biopsy.

A certain similarity with the Werdnig-Hoffmann disease has acute poliomyelitis. It begins violently, with a sharp rise in temperature, asymmetrical multiple paralysis.

The acute period lasts for several days, then the process passes into the recovery stage.

Glycogenoses and congenital myopathies are also characterized by reduced muscle tone. Changes are caused, in contrast to spinal muscular amyotrophy, by metabolic disorders, carcinoma, and hormonal imbalance. Gaucher's disease, Down's syndrome, botulism should also be excluded.

Therapeutic techniques

Treatment of spinal amyotrophy is symptomatic and aimed at stabilizing the patient's condition.

Prescribe medicinal funds:

Sick prescribe orthopedic procedures in combination with warm baths physiotherapy, soft massage, oxygen therapy, sulfide baths.

Types of spinal amyotrophy

Conventionally, proximal and distal forms of SCA are distinguished. 80% of all types of spinal amyotrophies belong to the proximal form.

These include, in addition to the disease Werdnig-Hoffmann:

1. SMA 3 or disease Kuldberg-Welander- get sick at the age of 2 to 20, the pelvic muscles are the first to suffer. There is a tremor of the hands, lordosis.
2. Lethal X-linked form- described in 1994 by Baumbach, inherited by a recessive trait, predominantly lesions of the muscles of the pelvis and shoulder girdle are observed.
3. Infantile degeneration- reflexes of sucking, swallowing, breathing are disturbed. Death may follow up to 5 months of age.
4. Spa Ryukyu- the linkage gene was not detected, there is a lack of reflexes, muscle weakness of the limbs after birth.

This group also includes Norman's disease, SMA with congenital arthrogryposis, SMA with congenital fractures.

Distal spinal amyotrophies include progressive infantile paralysis Fazio-Londe, Brown-Vialetta-van Laere disease, SMA with diaphragmatic paralysis, epilepsy and oculomotor disorders.

Spinal muscular atrophy is manifested in early childhood. The first symptoms may appear as early as 2-4 one month old. This is a hereditary disease, which is characterized by the fact that nerve cells gradually die off in the brain stem.

Problem types

Depending on when the first ones appear, several types of the disease are distinguished from the severity of the course and the nature of atrophic changes.

Spinal muscular atrophy can develop by:

The first type: acute (Verdig-Hoffmann form);

The second type: intermediate (infantile, chronic);

The third type: Kugelberg-Welander form (chronic, juvenile).

Three types of the same disease arise, according to experts, due to different mutations of the same gene. Spinal muscular atrophy is an autoimmune disease that occurs when two recessive genes are inherited, one from each parent. The mutation site is located on chromosome 5. It is present in every 40 people. The gene is responsible for encoding a protein that ensures the existence of motor neurons in the spinal cord. If this process is disrupted, the neurons die.

Verdin-Hoffmann disease

You can suspect the presence of a problem even during pregnancy. If a child develops spinal muscular atrophy type 1, then sluggish and late fetal movement during pregnancy is often noted. After birth, doctors may diagnose generalized muscle hypotonia.

Atrophies begin to appear already in the first months of life. Often in the proximal sections, fascicular backs, trunks, and extremities are noted. Bulbar disorders are also observed. These include sluggish sucking, a weak cry, a violation of the swallowing process. In children with Verdin-Hoffman disease, a decrease in vomiting, cough, pharyngeal, and palatine reflexes is often noted. They also note fibrillation of the tongue muscles.

But these are not all the signs by which spinal muscular atrophy can be determined. Symptoms characteristic of type 1 of this disease include weakness of the intercostal muscles. In this case, the chest of babies looks flattened.

In the first months of life, such children often suffer from respiratory infections, pneumonia and frequent aspirations.

Diagnosis of Verdin-Hoffman disease

You can determine the disease if you examine the child. There are a number clinical signs, by which specialists can determine that the baby has hereditary spinal muscular atrophy. Diagnostics includes:

Biochemical blood test (it will show a slight increase in aldolase and creatine phosphokinase);

Electromyographic study (the palisade rhythm will indicate the defeat of the anterior horns of the spinal cord);

VERDNIG-HOFFMANN SPINAL AMIOTROPHY .

It is inherited in an autosomal recessive manner. Underdevelopment of cells of the anterior horns of the spinal cord, demyelination of the anterior roots, similar changes in the motor nuclei and roots Y, YI, YII, IX, X, XI, XII cranial nerves. In skeletal muscles, neurogenic changes are characterized by "bundle atrophy", an alternation of atrophied and preserved bundles of muscle fibers.

CLINIC.

Distinguish three forms of the disease:

• congenital;
• early childhood;
• late childhood.

At congenital form children are born with flaccid paresis. From the first days of life, generalized muscular hypotension and a decrease or absence of tendon reflexes are expressed. Bulbar disorders are determined early, manifested by sluggish sucking, weak cry, fibrillation of the tongue, and a decrease in the pharyngeal reflex. The disease is combined with osteoarticular deformities: scoliosis, funnel chest, joint contractures. The development of static and locomotor functions is sharply slowed down. Decreased intelligence. Congenital malformations are often observed: congenital hydrocephalus, cryptorchidism, hemangioma, hip dysplasia, clubfoot, etc.

The course is rapidly progressive, malignant. Death occurs before 9 years of age. One of the main causes of death is severe somatic disorders (cardiac and respiratory failure), caused by weakness of the chest muscles and a decrease in its participation in the physiology of respiration.

At early childhood form the first signs of the disease appear in the second half of life. The disease develops subacutely, often after infection, food intoxication. Flaccid paresis is initially localized in the legs, quickly spreading to the muscles of the trunk and arms. Diffuse muscle atrophy is combined with fasciculations, fibrillations of the tongue, fine tremor of the fingers, and tendon contractures. Muscle tone, tendon reflexes are reduced. In the later stages, there are generalized muscular hypotension, the phenomena of bulbar paralysis.

The course is malignant, death occurs by 14-15 years of age.

At late form signs of the disease appear in 1.5 - 2.5 years. The disease begins imperceptibly. Movements become awkward, unsure. Children often stumble and fall. The gait changes - they walk, bending their knees (gait "clockwork doll"). Flaccid paresis is initially localized in the proximal muscle groups of the legs, then relatively slowly moving to the proximal muscle groups of the arms, the muscles of the body; muscle atrophy is usually subtle due to a well-developed subcutaneous fat layer. Typical fasciculations, fibrillation of the tongue, fine tremor of the fingers, bulbar symptoms - fibrillation and atrophy of the tongue, decreased pharyngeal and palatine reflexes. tendon reflexes fade away early stages illness. Osteoarticular deformities develop in parallel with the underlying disease. The most pronounced deformation of the chest.

The course is malignant, but milder. Patients live up to 20 - 30 years.

Diagnostics.

Autosomal recessive inheritance pattern, early onset, presence diffuse atrophy with predominant localization in the proximal muscle groups, generalized muscle hypotension, fasciculations, tongue fibrillation, absence of pseudohypertrophy, progressive, malignant course, electromyography data and skeletal muscle morphology, revealing the denervation nature of the changes.