Spinal DNA amyotrophy. The main symptoms of the development of amyotrophy. Learn more about the symptoms of SMA

Spinal Werdnig-Hoffmann amyotrophy is a hereditary disease. Against the background of pathology, damage in motor neurons is noted. Spinal amyotrophy of Hoffmann is transmitted with non-sex chromosomes. Next, let's take a closer look at the disease, its clinical picture and possible therapeutic measures to eliminate it.

Terminology

Before talking about how spinal amyotrophy manifests itself, let's get acquainted with some concepts. Let's analyze the name of the pathology. It consists of two parts:

• Spinal - the word indicates the localization of the violation. AT this case we are talking about a certain element located in the spine. This is one of the most important structures of the body - the spinal cord.
• Amyotrophy is a word that includes three parts: "a" - disorders, "myo" - muscle" and "trophy" - nutrition.

Based on this information, one can understand the meaning of the name of the pathology. Spinal Werdnig-Hoffmann amyotrophy is thus a malnutrition in the muscles. Pathology is characterized by the presence of weakness and twitching of the fibers.

Inheritance

Spinal muscular amyotrophy is an autosomal recessive disorder. This definition indicates the type of inheritance in which the transmission of a trait is carried out through non-sex chromosomes. Moreover, it manifests itself only when it is initially present in both parents (they themselves may not get sick).

Development of the disease

Spinal amyotrophy in adults does not occur. Pathology manifests itself in children. The disease is characterized malignant course and rapid progression. Large cells are responsible for coordinating movement. spinal cord. They also support muscle tone. When they are damaged, muscle dysfunction develops.

congenital form

Spinal amyotrophy has three forms. They are determined in accordance with the time of manifestation of the first signs and the intensity of the development of the process. The congenital form can begin even in the prenatal period. In this case, there is a weakening of the fetal movement for more later dates pregnancy. At the same time, at the beginning of the prenatal period, the movements were within the normal range. The very resolution of pregnancy may be pathological. Often, already within the first few days after birth, pronounced muscle paresis is detected, accompanied by a decrease in its tone and worsening of tendon reflexes. Retrobulbar (early) symptoms may also occur. They are manifested by a weak cry of an infant and sluggish sucking. In some cases, complete areflexia is observed. The child may have fibrillations in the tongue, hypomia, and a decrease in the swallowing reflex. Spinal amyotrophy is accompanied by tachycardia. Often, pathology is combined with several malformations, slowing down the formation of the psyche. Spinal amyotrophy is characterized by a rapid course and ends with a lethal outcome by 1-1.5 years.

early form

It is characterized by a milder course than congenital. The early childhood form is considered a classic manifestation of the disease. Spinal amyotrophy in this case manifests itself at the age of one and a half years.

In almost all cases, signs of the disease are found after food poisoning or some kind of infectious lesion. A normally developing child begins to quickly lose previously acquired motor abilities. He stops sitting, standing and walking. First, flaccid paresis in the lower extremities is noted, gradually passing to the trunk and arms. The child's condition is deteriorating very quickly. Weakness appears in the muscles of the neck and bulbar muscles. As a result of insufficiency of the respiratory system, pneumonia appears by the age of 4-5, then death occurs. Flaccid paresis in children is complicated by tendon contractures. Often spinal Werdnig-Hoffman amyotrophy is accompanied by general hyperhidrosis.

Late onset of pathology

The third form of the disease begins after 1.5-2 years. Compared to the previous ones, it flows relatively easily. The ability to move remains in children up to 10 years. After that, the condition usually worsens.

Clinical picture

Pathology is characterized by paresis, first of the proximal lower extremities, and then of the upper ones. At spinal amyotrophy fatty subcutaneous layer well expressed. This, in turn, makes it difficult to identify muscle dysfunction. Tendon reflexes begin to fade early enough. For pathology, a small tremor of the fingers with outstretched arms is characteristic. Bone deformities are considered typical, especially in the lower extremities and sternum. Bulbar symptoms manifest as atrophy of the musculature of the tongue with fibrillar-type twitches, paresis in the soft palate, and reduced pharyngeal reflex.

Fazio-Londe disease

This is a special variant of the manifestation of atrophy. Pathology begins to develop, as a rule, by the age of three, and in some cases in adolescence. The disease is characterized by weakness of the muscles of the face, including chewing muscles. Difficulty swallowing and voice changes are noted. Pathology is accompanied by atrophy of the tongue, in some cases ophthalmoplegia may appear. The disease progresses very quickly. After 6-12 months, death occurs. Paralysis and paresis in the extremities can be added to bulbar disorders. In some cases, these symptoms do not even have time to develop. However, an autopsy always reveals a lesion in the cells of the anterior spinal horns throughout.

Diagnostics

During the examination, the pathology is separated from Oppenheim's myotonia. Most experts believe that this pathology is not independent. nosological unit. Myotonia Oppenheim, according to researchers, is a syndrome for which hypotonia of the muscles of a pronounced type becomes the leading manifestation. In this regard, in recent times the term "sluggish child" is widely used.

Research methods: electromyography

The detection of spinal amyotrophy is based (except early manifestation and typical clinical picture) on the results of a number of additional studies. Of these, it is worth highlighting electromyography. In almost all cases, bioelectrical spontaneous activity is detected at rest in the presence of fasciculation potentials. Against the background of arbitrary contractions, it is stated electrical activity sparse character with the rhythm of the "palisade". This indicates an increase in the duration of the potential and the phenomenon of synchronization.

Pathological study

It allows you to identify a decrease in the number of cells of the anterior spinal horns, as well as changes in the degenerative type. Pathological disorders are pronounced in the region of the cervical and lumbar thickenings, in the motor nuclei of the cranial nerves. Changes in the anterior roots are also found, in the intramuscular zones nerve endings. There is a disappearance and excessive branching of the normal terminal.

Biochemical analysis

This study reveals changes carbohydrate metabolism. Thus, it was found that with spinal amyotrophy, glycolysis in patients is close to the embryonic type. Quite often, significant changes in creatine-creatinine metabolism are detected - an increase in creatine excretion, a decrease in creatinine excretion. It should also be noted that the concentration of enzymes in the blood serum is practically unchanged.

Spinal amyotrophy: treatment

Pathology therapy is reduced to the appointment of exercise therapy and massage. These procedures must be performed regularly. Radical methods of treatment are absent. To a certain extent, taking a number of medications can bring relief. In particular, experts recommend such means as "Sangvinarin", "Galantamine", "Oksazil", "Prozerin". Additionally, B vitamins are prescribed. pronounced manifestations disease, repeated blood transfusions in small doses may be recommended.

Spinal muscular atrophy is a fairly rare condition. nervous system, which in scientific medicine also called spinal amyotrophy. This pathology has several forms and can be transmitted to relatives even after several generations. The patient's work of motor neurons in the brain and. Damage to motor neurons results in muscle weakness or atrophy. As a rule, the disease is detected in infancy. Affected children rarely live beyond the age of two. If amyotrophy manifests itself in adolescence or adulthood, then a person with it can live up to 40 years.

Spinal muscular atrophy is purely hereditary. If one of the parents in the body has a chromosome affected by a pathological change, then it is invariably transmitted by an autosomal recessive type to the child. If both parents are carriers of pathologically altered chromosomes, then amyotrophy in a child is detected from infancy. As a rule, in carriers of such chromosomes, the disease does not manifest itself in any way, but their child has all the signs of impaired muscle activity.

At muscular atrophy in damaged chromosomes, a mutation of the gene is noted, which is responsible for protein synthesis in the body. Such a violation leads to complete muscle dysfunction. The patient over time, responsible for important life processes. The respiratory, swallowing reflex gradually disappears. The tone of the muscles of the whole body invariably decreases, the face is distorted.

When spinal muscular atrophy appears in adulthood, it means that a pathologically altered chromosome was transmitted from one of the parents. Adult spinal amyotrophy occurs only in males, as it is attached to the X chromosome. The first signs of this disease in men appear in adulthood and old age. An adult can live with such a pathology for a long time. However, it is necessary to constantly support the body with drugs, physiological procedures and therapeutic exercises.

The development of spinal muscular atrophy in adults is sometimes influenced by external factors. The first manifestations of the disease may appear as a reaction to impaired blood circulation, an unbalanced diet, problems with neuromuscular conduction, damage internal organs and their systems, smoking, alcohol abuse.

The outcome of this pathology is always fatal. How long a patient who has been diagnosed with spinal muscular atrophy in adulthood will live depends only on himself. With proper treatment and timely diagnosis, the motor neurons of the spinal cord and brain stem do not die as quickly as in the absence of therapy.

Classification of types of spinal muscular atrophy

Spinal and neural amyotrophies in scientific medicine are divided into several types. They differ in the nature of the manifestation, the severity of the symptoms, the patient's ability to act independently. Depending on the type of pathology, doctors prescribe appropriate treatment, coordinated to slow down the destructive reactions of the body.

Today, doctors talk about four main types of spinal muscular atrophy, namely:

1. . Violation of this type is manifested from the first days of a child's life, so it is also called infantile muscular atrophy.
2. Dubovitz disease. This is the so-called intermediate species, the signs of which are found in a child from 7 months to two years.
3. Kugelberg-Welander disease. This term refers to the juvenile type of spinal muscular atrophy. Signs are first noted in older children and invariably progress.
4. Adult type of the disease. From this violation older and older men are affected. Proper Treatment can slow down destructive processes and prolong the life of the patient.

All types of such deviations and disorders of the functioning of the nervous system are similar in one thing: it is completely impossible to cure them. The fastest spinal muscular atrophy takes life in babies.

If the first 2 types are considered almost hopeless, then Kugelberg-Welander disease and amyotrophy in adulthood can be contained through drugs, special procedures and physiotherapy exercises. Only a doctor is involved in the treatment of such disorders, folk remedies powerless.

When the first signs of the disease are detected, you need to contact a geneticist, a neurologist and a neuropathologist. The doctors will do everything necessary examinations, put accurate diagnosis and tell the patient or their relatives what to do next. Following all the recommendations of doctors, spinal muscular atrophy can be, if not overcome, then significantly slow down.

There is also a distal form of the disease. It is extremely rare. Its main difference is that the center of the primary lesion is located far from the center of the spinal cord. This type progresses quickly, treatment gives a weak positive result.

Werdnig-Hoffmann disease: symptoms and prognosis

The disease is extremely rare in children. As a rule, it is diagnosed in one child out of 100,000 children under two years of age. Statistics say that 7 babies out of 100,000 newborns show the first symptoms from the first day of life outside the womb.

During the diagnosis, it is found that the cells of the anterior horns of the spinal cord are not sufficiently developed. cranial nerves are often pathological changes. Skeletal muscles still retain separate bundles of healthy neurons, but they are destroyed within a short period of time. The child may have hyalinosis, hyperplasia connective tissue, violation of the integrity of certain muscle fibers.

Doctors distinguish three subspecies of this disease:

• congenital;
• early childhood;
• late childhood.

Children with a congenital subspecies of spinal muscular atrophy usually do not live beyond the age of 9 years. Already from the first days of their life, symptoms such as a decrease in muscle tone, complete absence reflexes. Over time, the sucking mechanism is disrupted, children cry quietly, swallow poorly. In addition, patients are unable to chew food on their own.

As the child grows, diaphragm paresis, scoliosis, and joint problems occur. at the same time, it is greatly modified and deformed (). In addition, sick children often show signs of dementia and developmental defects.

The congenital form progresses very quickly. By the age of 8, a sick child turns into a completely incapacitated person. When respiratory and swallowing reflexes are broken completely, the patient dies of heart failure, lack of air or problems with digestion.

The early childhood form of the disease begins to develop from the second half of life. Death usually occurs at 14 years of age. The first few months the baby develops normally: he holds his head, sits, learns to stand. However, then the same signs appear as in the congenital form. This type develops more gently and is not as aggressive as the congenital type. However, death occurs in any case.

signs late form begin to appear at 2 years of age. The disease develops gradually and gently. At first, the child can even walk and run, but then these skills disappear. People with this form can live up to an average of 30 years.

Kugelberg-Welander disease: clinical picture, survival

Spinal Kugelberg-Welander muscular atrophy differs from Werdnig-Hoffmann disease in that it is a relatively benign process. This means that this pathology develops very slowly and gives a person the opportunity to live almost until old age. At the same time, the patient for a long time retains relative viability. A person with this disorder can move independently, go to work, go shopping, etc.

Patients have the opportunity to a certain age, until the disease has spread throughout the body, to bear and give birth to children. However, there Great chance that the disorder is hereditary. If one of the partners is healthy, this is also not a guarantee that the children will be healthy. Planning for pregnancy in such cases should be accompanied by a consultation with a geneticist, since pathologically altered chromosomes can be seen in a child already at early dates pregnancy.

Medical scientist Welander pointed out that the first signs of spinal muscular atrophy appear after two years of age. The peak usually occurs between the second and fifth years of life. However, in some people, the disease manifests itself much later. This also happens in adolescence, even if before that no problems with the musculoskeletal system were observed.

First anxiety symptoms there are situations when the child often stumbles, it is difficult for him to walk up the stairs, when walking his knees are twisted or bent. Later, scoliosis, deformity may be detected chest, hand tremor, cramps of the lower extremities.

At first, the disease affects only lower limbs. In more late age impaired motility of the upper body. However, a person retains mobility almost until old age. The key to a long life in this case is a special physiotherapy, rejection seated image life and all bad habits, balanced diet, good sleep, daily walks in the fresh air.

It is important to remember that Kugelberg atrophy is not a cause for complete disability. People with this disorder are handicapped, but they can lead a normal life and do without outside help for many years from the date of the first symptoms.

Diagnosis, treatment and prevention

Spinal muscular atrophy can be diagnosed with a biochemical blood test, a biopsy of muscle tissue, and an EMG study. Based on the data obtained, the type of disease, the degree of damage are determined, a prognosis is made and treatment is prescribed.

In medicine, there is no officially pleasant therapeutic technique aimed at getting rid of spinal muscular atrophy. Scientists in many countries are actively working in this direction and are developing new ways to treat and prevent this neurological disorder.

In the course of recent studies, medical scientists have concluded that the most effective treatment is with the use of sodium butyrate and valproic acid. However, a ready-made vaccine that would save patients from pathology has not yet been developed.

Non-drug treatment is based on massage, electrophoresis, moderate physical activity, regular therapeutic exercises.

Such methods will not get rid of the disease, but will help to significantly reduce the pace of development of pathological processes.

In addition, patients are prescribed some medications. Nivalin and Prozerin qualitatively improve the passage of an impulse from the brain to cells muscle tissue. Actovegin is able to improve blood circulation and speed up metabolic processes. This allows the formation of new healthy cells, which will not slow down the reproduction of pathologically modified structures. Piracetam and Nootropil help to improve the blood supply to the organs of the central nervous system.

Prevention of this disease does not exist. The only thing that can help is a consultation with a geneticist at the stage of pregnancy planning. The specialist will conduct an analysis to detect pathogenic cells in the parents. If both parents are carriers of chromosomes with this disorder, then the probability of having a sick child is extremely high.

Amyotrophy is a disease in which there is a progressive loss of muscle mass. As a result, the muscles weaken and lose the ability to perform the functions assigned to them.

Types of amyotrophy

There are several types of amyotrophy: hereditary and symptomatic. Hereditarily determined amyotrophy is divided into spinal and neural. Hereditarily determined, as the name itself implies, are inherited from ancestors to descendants. The causes of symptomatic amyotrophy are various infectious diseases, endocrine disorders, damage to muscle tissue, chronic intoxication.

The causes of hereditary amyotrophy are not fully understood. AT general view it can be noted that amyotrophy is due to the appearance small damage nerve cells of the spinal cord and their segments. Over time, this disease progresses, and paralysis develops, the level of electrical excitability of nerve endings decreases, muscle functions are gradually lost. In this case, this disease disrupts the activity of all fibers of the muscular system.

Spinal amyotrophies

Spinal amyotrophy is a progressive disease that affects the nerve cells of the spinal cord. This is not one disease, it includes a whole group of diseases: Aran-Duchene disease, Werding-Hoffmann disease and a number of other more rare diseases. Despite the many diseases included in this group they all present with similar symptoms. This is expressed in the fact that flaccid paralysis develops over time, the tendons weaken. As a rule, the lesions are asymmetrical. The features of each disease is that they suffer at first various groups muscles.

For example, with Werding-Hoffmann disease, the patient has weakness, mainly the muscles of the trunk suffer. Researchers note high percent consanguinity among the parents of patients. This disease is divided into types depending on the time of occurrence and progression of the disease: congenital, early childhood and late.

The development of congenital amyotrophy occurs in the first months of a baby's life. This disease is usually combined with other defects. Delayed treatment is more likely lethal outcome. The cause of the latter is cardiovascular and respiratory failure, which develops due to the weakness of the respiratory muscles.

Early childhood amyotrophy develops at the age of six months to one year. Initially, the muscles of the trunk and legs are affected, in the future there is a violation of the work of all muscle groups. To detect this disease is quite simple. The baby does not stand on its feet, cannot sit up and grabs toys with difficulty. characteristic feature there is also a slight twitching of the muscles, especially of the tongue. If treatment is not started in time, then complete muscle hypotonia and paralysis develop. A child with this disease does not live to be 15 years old.

Late amyotrophy appears at the age of two and a half to three and a half years. At this time, the child already stands steadily on his feet and moves freely in space. Symptoms of this disease are uncertainty when walking and frequent falls. This disease gradually progresses, affecting an increasing muscle group. As a result, by the age of ten, the child ceases to move independently and cannot serve himself. A person can live with such a disease only up to a maximum of 30 years.

Benign spinal amyotrophy of Kugelberg-Welander. Separate disease, which is included in the group of diseases of spinal amyotrophy. Separate group researchers believe that this disease is a type of Werding-Hoffmann disease.

This disease slowly progresses, develops, as a rule, in the muscles of the trunk and gradually spreads to the limbs. Accompanied general weakness. It is observed in children aged three to seventeen years. A characteristic feature of this disease is also overweight body. People with these diseases live up to old age and retain the ability to move independently.

Aran-Ducher disease is observed in individuals in old age. It is characterized by weakening of the muscles of the limbs. The course of the disease itself is slow. There is muscle twitching, and in some cases, paralysis. Death in this disease occurs from bronchopneumonia.

Neural amyotrophies

Neural amyotrophy includes a number of diseases, the most common of which is Charcot-Marie-Tooth disease. This disease is characterized by the development of paralysis and weakening of sensitivity in certain parts of the limbs. Muscle twitching is not observed.

As a rule, the main group of patients belongs to age category from 10 to 20 years old. Most early symptom is weakness and the development of a cock's gait. For more late stage the hands are also involved in the process and tendon reflexes disappear. There is a decrease in sensation in the limbs. Patients with this disease live to old age and die a natural death. At the same time, they retain the ability to move around, serve themselves, and in some cases even work.

Diagnostics

To diagnose this disease, it is necessary to consider the clinical picture of the course of the disease, conduct a family survey and carry out certain studies on electrophysiological and morphological devices.

Despite the fact that there is great amount works related to the disclosure of the problem of the development and course of amyotrophy, the diagnosis is quite complicated. This is due to the fact that many of the symptoms are quite similar to other diseases of this kind. Usually, correct diagnosis is possible only in special centers equipped with devices for the study of the musculoskeletal system.

Treatment of amyotrophy

Treatment depends on the type of amyotrophy. Treatment of neuronal amyotrophy is complex, symptomatic and lifelong. Doctors prescribe in this situation a complex of vitamins B and E, aminalon, dibazol, steroids, glutamic acid. In addition to the use of pills and injections, massage courses, exercise therapy, various kinds physiotherapy. When contacting a doctor with running stage amyotrophy, an orthopedic correction is prescribed, which prevents deformation of the skeleton.

In order to prolong the life of a person prone to amyotrophy disease, it is necessary to constantly examine him with the appropriate specialists. Persons subject to similar disease, are those who among close relatives have patients with amyotrophy. Early diagnosis will help preserve the functions of the musculoskeletal system for a long time. All prescriptions of the doctor must be strictly followed.

Treatment and prevention of amyotrophy involves the treatment of the underlying disease. With amyotrophies caused by diseases prone to regression, along with the above means, electrical stimulation is prescribed. peripheral nerves, baths, mud therapy.

Proximal spinal amyotrophy I, II, III, IV type ( CAM I-IV) is one of the most common hereditary diseases with an autosomal recessive type of inheritance, with an incidence of 1 in 6000-10000 newborns. The main development mechanism clinical signs associated with progressive degeneration of the motor neurons of the anterior horns of the spinal cord, which is expressed in atrophy of the proximal muscles of the limbs, in the first place. There are four forms of proximal spinal amyotrophy based on age of onset, severity of course, and life expectancy.

Spinal amyotrophy type I(CAM I, Werdnig-Hoffmann disease, OMIM) - the most severe form, the first symptoms can often be detected even in the prenatal period by weak fetal movement. A significant number of children with Werdnick-Hoffmann disease have distinct clinical manifestations up to 6 one month old and are characterized by pronounced signs of flaccid paralysis of the muscles of the limbs and trunk, with involvement of the respiratory muscles in the process. Children with Werdnick-Hoffman disease do not hold their heads up and do not sit up on their own.

Spinal amyotrophy type II(CAM II, intermediate form, OMIM) has a later onset, usually after 6 months. Children with this form of spinal amyotrophy can sit, but never achieve the ability to walk independently. The prognosis in these cases depends on the degree of involvement in pathological process respiratory muscles.

Spinal amyotrophy type III (CAM III, Kugelberg-Welander disease, OMIM ) the first symptoms in patients appear after 18 months. With Bugelberg-Welander disease, patients can stand and walk independently.

In addition, allocate spinal amyotrophy type IV (CAM IV or adult form ) (OMIM) is a slowly progressive disease that usually begins after 35 years of age and does not significantly affect life expectancy. Spinal amyotrophy type IV is characterized by weakness of the proximal muscles, fasciculations, decreased tendon reflexes, and leads to the inability to walk independently.

The gene responsible for the occurrence of proximal spinal amyotrophy type I-IV, called SMN(survival motor neuron gene), located in the 5q13 region and represented by two highly homologous copies (telomeric - SMN1 or SMNt and centromeric - SMN2 or SMNc). In 96% of patients with various types of spinal amyotrophy, deletion SMN1 gene.

The Center for Molecular Genetics conducts direct DNA diagnostics of spinal amyotrophy. Direct diagnostics is based on the allele-specific ligation reaction of fragments of exons 7 and 8 of both genes, which makes it possible to register the presence/absence of the corresponding exons of the SMN1 and SMN2 genes. Carrying out prenatal DNA diagnostics spinal amyotrophy reduces the risk of having a sick child to almost 0%.

In addition, the Center for Molecular Genetics carries out a quantitative analysis of the genes of the 5q13 locus (CMA locus). Semi-quantitative molecular methods for diagnosing spinal muscular atrophy make it possible to determine not the number of gene copies per genome, but the ratio of the number of centromeric and telomeric gene copies, which is not always informative, because this ratio may be due to both an increase in the number of copies of the SMN2 gene and a decrease in the number of copies of the SMN1 gene. That's why quantitative analysis recording the number of genes of the SMA locus, is indispensable in determining the status of a carrier of spinal amyotrophy, which has great importance for families where the material of a sick child is not available, as well as for healthy members of CAM I-IV families and newly created married couples, in which one of the spouses is an obligate carrier of spinal amyotrophy, for their further medical genetic counseling.

For persons who are eligible the following criteria, at the Center for Molecular Genetics it is possible to search for point mutations in the SMN1 gene using direct automatic sequencing:

• phenotype of proximal spinal muscular atrophy type I-IV;
• electromyographic signs of anterior horn lesions of the spinal cord;
• the absence of a major mutation in the SMN1 gene - deletions of exons 7 and/or 8 in the homozygous state;
• the presence of one copy of the SMN1 gene, confirmed by a quantitative molecular genetic method.

We have developed . The set is intended for use in diagnostic laboratories of the molecular genetic profile.

When conducting prenatal (antenatal) DNA diagnostics for a specific disease, it makes sense to diagnose frequent aneuploidies (Down, Edwards, Shereshevsky-Turner syndromes, etc.) on the already existing fetal material, paragraph 54.1. Relevance this study due to the high total frequency of aneuploidy - about 1 per 300 newborns, and the lack of the need for repeated sampling of fetal material.

SA is a heterogeneous group of hereditary diseases of the peripheral nervous system, which are characterized by pronounced clinical polymorphism.

Spinal muscular atrophy (or SA) is a heterogeneous group of hereditary diseases that occur with damage and loss of motor neurons of the anterior horns of the spinal cord.

Amyotrophy is a violation of muscle trophism, accompanied by thinning of muscle fibers and a decrease in their contractility caused by damage to the nervous system: motor neurons (at various levels of the central nervous system - neurons of the motor cortex, nuclei of the brain stem, anterior horns of the spinal cord) or peripheral nerve fibers. The disease is considered hereditary as a result of gene mutations, although if we look at the case history, many patients do not have a family history.

There are hereditary and symptomatic amyotrophies. Neurogenic hereditary amyotrophies are divided into two large groups - spinal and neural amyotrophies. In most cases, spinal forms are more severe. These include: spinal amyotrophy (Werdnig-Hoffmann disease), Kugelberg-Welander pseudomyopathic progressive spinal amyotrophy, rare forms of spinal amyotrophy and undifferentiated forms. Neural amyotrophies: Charcot-Marie-Tooth disease, Dejerine-Sotta hypertrophic neuropathy, Roussy-Levi syndrome, atactic polyneuropathy or Refsum disease, as well as undifferentiated forms.

SA are also divided into adults and children. Proximal SA of childhood include: acute malignant infantile SA of Werdnig-Hoffmann (type 1 spinal amyotrophy), chronic infantile SA (type 2 spinal amyotrophy), juvenile SA (Kugelberg-Welander disease), rare forms of SA in childhood Keywords: infantile neuronal degeneration, congenital form of Peliceus-Merzbacher disease, congenital cervical SA, atypical variant of GM gangliosidosis, progressive childhood bulbar paralysis(Fazio-Londe syndrome), pontobulbar paralysis with deafness (Vialetto-Van Lare syndrome).

Adult SA: Kennedy's bulbospinal amyotrophy, distal SA, segmental SA, monomyelic SA, Stark-Kaiser scapulo-peroneal SA, Fenichel's facial humeral SA, oculopharyngeal SA. There are also undifferentiated forms of SA with rapidly progressive, slowly progressive and non-progressive course.

According to the recommendation of the European Consortium for the Study of Neuromuscular Diseases, clinical criteria spinal muscular amyotrophy are: [ 1 ] symmetrical muscular hypotension and hypotrophy, [ 2 ] fasciculations of various muscle groups, [ 3 ] hypo- or areflexia of limb muscles, [ 4 ] lack of sensory, cerebellar and intellectual disorders.

note! There are no pathognomonic changes in spinal muscular amyotrophy. However, it is important to determine the activity of serum creatine kinase: it is believed that exceeding its norm by more than 10 times is characteristic of myodystrophy and contradicts the diagnosis of spinal muscular amyotrophy.

read also the post: Creatine Kinase (Neurologist's Handbook)(to the website)

Electroneuromyography (ENMG) reveals symptoms of damage to peripheral motor neurons: spontaneous muscle activity, an increase in the duration and amplitude of action potentials motor units at a normal speed of impulse conduction along the afferent and efferent fibers of the peripheral nerves. At histological examination muscle biopsies show signs of denervation muscle atrophy.

Classical proximal SA in adults begins in the 3rd decade of life and is inherited in an autosomal recessive manner. SA usually debuts at age 40 - 50 however, there are cases with onset in adolescence. The distribution of muscle weakness in the autosomal dominant type is in some cases much wider than in the autosomal recessive type. The proximal muscles are also more severely affected than the distal ones. Symptoms progress slowly, motor functions and the ability to walk in the vast majority of patients is preserved in adulthood and even in old age. Weakness of the bulbar muscles is not typical. oculomotor muscles are not amazed. Tendon reflexes are depressed or absent. Joint contractures are rare. The level of CPK is normal or slightly elevated. The following forms of SA in adults will be considered:

1. Kenedy's bulbospinal amyotrophy;
2. distal SA;
3. segmental SA;
4. monomyelic SA;
5. scapuloperonial SA of Stark-Kaiser;
6. Fenichel's facial scapulohumeral SA;
7. oculopharyngeal spinal amyotrophy.

bulbospinal Kennedy amyotrophy. A rare X-linked form of spinal amyotorfia; debuts in the 4th decade of life, although occasionally there are cases of the first manifestations at 12-15 years of age. Ken is mapped on the long arm of the X chromosome in the Xq21-22 segment. The mutation affects the androgen receptor gene and is an expansion of the nucleotide triplet (cytosine - adenine - guanine). The core of the clinical picture of the disease is weakness, atrophy and fasciculations in the proximal muscle groups of the limbs, tendon areflexia, weakness of facial muscles, atrophy and fasciculations in the tongue, perioral fasciculations, dysarthria and dysphagia (the latter is not a prognostically unfavorable sign), postural tremor and cramps. Rarely, axonal neuropathy develops. Bulbar disorders usually occur 10 years after the onset of the disease. Typical endocrine disorders: gynecomastia (!), testicular atrophy, decreased potency and libido, diabetes mellitus. A third of patients suffer from infertility due to azoospermia. Manifestations of feminization and hypogonadism are probably associated with the insensitivity of defective androgen receptors to male sex hormones (their level in patients remains normal). The prognosis of the disease is generally favorable. Walking and the possibility of self-service are preserved. Life expectancy is not shortened. However, there is increased risk malignant tumors due to hormonal imbalance (breast cancer), which requires oncological alertness. The disease must be distinguished from ALS. At present, it is possible to conduct direct DNA diagnosis of the disease, establish heterozygous carriage, and carry out prenatal diagnosis.

Distal SA. Autos.-recess. form can begin in early childhood, while autos.-domin. form - at 23 - 25 years. With both types of inheritance, severe clinical forms, and forms of moderate severity. The disease begins with weakness and atrophy of the anterior leg muscles, which are accompanied by deformities of the feet. Tendon reflexes may be preserved. Clinical picture may resemble HMSN type Ι, however, with SA, sensitivity is not impaired. In severe autos.-reces. forms, muscle weakness gradually spreads to the proximal muscles of the legs, and sometimes the arms. The degree of weakness in the arms varies between different families, but is almost the same in representatives of the same family. Approximately 25% of patients have scoliosis. In some families, affected individuals may present with pseudohypertrophy or atrophy. calf muscles. ENMG data make it possible to distinguish the disease from peripheral neuropathy: the speed of conduction along the motor axons is normal, despite signs of total denervation of the small muscles of the foot. Evoked sensory potentials are also normal. The level of CPK is normal, sometimes moderately elevated.

Segmental SA: only the hands or only the feet are affected; the disease is characterized by genetic heterogeneity: autos.-home. inheritance is typical of the adult-onset form; autos.-recess. - for a form that begins in adolescents, mostly boys. Hand atrophy is usually asymmetrical, progresses over 2 to 4 years, and sometimes affects the forearms. Fasciculations and cramps are characteristic. Usually, the growth of artophia stops with time, but in some cases the muscles of the legs are involved.

Monomelic SA: This rare form affects the muscles of the arm or leg. Most cases have been reported in Japan and India. Monomelic AS usually occurs as sporadic cases with a 10:1 male predominance, suggesting an X-linked recessive inheritance pattern. Age of debut varies from 10 to 25 years. Muscle weakness and atrophy increase imperceptibly. The hand is affected more often than the leg. Weakness may be distributed only proximally, only distally, or involve the entire limb. Atrophy is initially unilateral and occurs in muscles innervated by C7, C8, and Th1 spinal segments. Bilateral muscle weakness usually develops within 2 years. Often there is a unilateral or bilateral postural tremor of the hands. Fasciculations in the proximal muscle groups precede the onset of weakness and atrophy. The progression of the disease is slow and after 5 years, as a rule, stabilization occurs. However, after 15 years, another limb may be involved in the pathological process. Other causes of monoplegia must be excluded.

Scapuloperoneal SA Stark-Kaiser. This rare form SA is genetically heterogeneous. Cases inherited in an autosomal dominant manner make their debut in the 3rd-4th decade of life and are characterized by a relatively benign course, while cases with autosomal recessive inheritance make their debut at 3-5 years of age. Linkage to the 12q24 locus is assumed. In some patients, a mutation in the SMN gene of the 5th chromosome is determined, which casts doubt on the nosological independence of a number of cases of scapuloperoneal CA and indicates a peculiar variant of proximal CA gene expression. Weakness and atrophy of the muscles prevail in the humeroscapular muscle group and the extensors of the foot. Perhaps the slow spread of atrophy to the proximal legs and the muscles of the pelvic girdle. Differential diagnosis is carried out with scapuloperoneal myodystrophy.

Facial-shoulder SA Fenichela. A rare autosomal recessive form of AS that begins in the 2nd decade of life. The gene has not yet been mapped. The disease mimics Landouzy-Dejerine's facial scapulohumeral myodystrophy, but with it, tendon reflexes are usually induced, and muscle strength is slightly reduced. On EMG, a neuronal-axonal type of lesion is recorded. CPK activity is normal. A number of researchers dispute the nosological independence of this form and consider it within the framework of the Landouzy-Dejerine disease.

Oculopharyngeal SA. An autosomal dominant mode of inheritance is assumed. The disease usually begins in the 4th decade of life with external ophthalmoplegia, dysphagia, and dysarthria. In some cases, weakness in the distal extremities and back muscles joins. The course is slow, benign. Sometimes the disease is considered within the framework of mitochondrial myopathies.

source: materials of the guide for doctors "Diseases of the nervous system" ed. N.N. Yakhno, D.R. Shtulman, ed. 2nd, volume 1; Moscow, "Medicine", 2001 (as well as the following articles).

read also:

article " Clinical case late onset of spinal amyotrophy in an adult patient - a stage in the development of amyotrophic lateral sclerosis? T.B. Burnasheva; Israeli Medicine Center, Almaty, Kazakhstan (Medicine magazine No. 12, 2014) [read];

article "A clinical case of late onset of undifferentiated spinal amyotrophy" Goncharova Ya.A., Simonyan V.A., Evtushenko S.K., Belyakova M.S., Evtushenko I.S.; State Institution "Institute of Emergency and reconstructive surgery them. VC. Husak NAMS of Ukraine”, Donetsk National medical University them. M. Gorky (International neurological journal, No. 5, 2012) [read];

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