Spinal amyotrophy Werdnig-Hoffmann: causes, symptoms, treatment. Spinal muscular atrophy

Spinal muscular atrophy (SMA), or spinal amyotrophy Werdnig-Hoffmann syndrome is an autosomal recessive hereditary disorder characterized by progressive hypotension and muscle weakness.

The characteristic weakening of muscle tissue occurs due to the progressive degeneration of alpha motor neurons in the anterior horn of the spinal cord. Thus, the disease is based on a pathology of the spinal cord, which can be inherited.

A feature of the disease is a more active manifestation of weakness in skeletal muscles located deeper than those located closer to the surface of the body. In this material we will talk about the symptoms and treatment of Werdnig-Hoffmann spinal muscular atrophy.

The information will be useful to anyone who, for a number of reasons, has had to deal with this serious and often fatal disease.

In some patients in pathological process motor neurons of the cranial nerves, especially pairs V to XII, may also be involved. In this case, the disease originates from the posterior horn of the spinal cord cells, which in addition causes insufficiency of the muscles of the diaphragm, gastrointestinal tract, heart and sphincters.

In 1890, Werdnig first described the classic infantile form of SMA, a manifestation of the syndrome in young children. Many years later, in 1956, Kugelberg and Welander classified a less severe form of spinal muscular atrophy in older patients.

Thanks to these scientists, doctors today can accurately differentiate SMA from different types diseases with similar symptoms, for example, Duchenne muscular dystrophy.

Spinal amyotrophy is the most common diagnosis in girls, with severely progressive weakness. This is one of the most common genetic reasons death in children.

SMA syndrome is divided into four types based on the age of the patient as follows:

Type I (spinal amyotrophy of Werdnig-Hoffmann). Develops up to 6 months of age.
Type II – between 6 and 12 months of age.
Type III (Kugelberg-Welander disease) – aged 2 to 15 years
Type IV in adult patients.

Spreading

The incidence of the disease is approximately one case per 15-20 thousand people. If we talk only about newborns, then this figure will be approximately 5-7 cases per 100 thousand. Since spinal amyotrophy is an inherited recessive disease, many parents may be carriers of it and not know it.

The prevalence of SMA carriers is 1 in 80; in other words, every 80th family may have a child suffering from spinal muscular atrophy. This risk increases several times when both parents are carriers of the mutant gene.

Thus, SMA syndrome is the most common degenerative disease of the nervous system in children after cystic fibrosis and, as noted above, it is the leading hereditary cause infant mortality.

The death is due to respiratory failure. The younger the patient is early stages illness, the worse the prognosis. General average age at the time of death is about 10 years. The state of intelligence and other indicators of the child’s psychosomatic development does not in any way affect the progression of the disease.

Unlike young patients, adult men are more often affected by the disease than women in an approximately 2:1 ratio, while the clinical course in male patients is more severe. The increase in cases of the disease in females begins at about 8 years of age and boys “catch up” with girls at the age of 13.

Spinal muscular atrophy - symptoms

The first type of spinal muscular atrophy causes the first symptoms to appear before the baby is born. Most mothers report abnormal fetal inactivity late stages pregnancy. Symptoms of SMA in newborns are quite obvious - the child cannot roll over on his own, and subsequently take a sitting position.

In addition, progressive clinical deterioration develops, which in the vast majority of cases ends in death. Death usually occurs from respiratory failure and its complications in patients aged 2 years.

Patients with type 2 SMA develop normally during the first 4-6 months of life. They may be able to sit up on their own, but they will never be able to walk and will need a wheelchair to get around in the future. As a rule, such children live much longer than patients suffering from Werdnig-Hoffmann spinal atrophy. The average lifespan is up to 40 years.

Patients with type 3 often have difficulty climbing stairs or getting up from the floor, primarily due to extensor weakness. hip joint. Life expectancy is close to normal.

Treatment

There is currently no known medical treatment spinal muscular atrophy, so it is immediately worth noting that the survival rate among early and middle-aged patients is quite low.

Newborns with Werdnig-Hoffmann spinal muscular atrophy require little orthopedic care due to their short life expectancy. Splinting is used in cases that are often observed with weakened muscle activity.

For patients with type II and III SMA, physical therapy can be used to treat joint contracture (limited joint movement). For more radical treatment of contracture, surgical treatment is indicated.

As noted above, the most common orthopedic problem in SMA syndrome is scoliosis, which often takes a severe form. The progression of spinal curvature is about 8° per year, despite treatment with braces.

Segmental-type posterior spinal fusion is often recommended for young patients whose curvature of the spinal column cannot be corrected with braces, as well as for patients older than 10 years with a curvature of more than 40°.

Surgery should be delayed until medical point this is possible. It should be borne in mind that the progression of curvature occurs more slowly in patients with the third type of SMA and appears more often at a later age.

Diet

Treatment of spinal muscular atrophy requires an individual approach to rationing the patient’s menu, which, unfortunately, is very often not observed by the attending physicians. Anthropometric indicators, blood composition and biochemical markers of muscle condition are important elements assessments in patients with SMA.

The peculiarity of the course of the disease in a particular patient may require intervention in his diet in order to influence the above indicators, since it is with the help of food that the muscles can be given those nutrients which the patient needs in his case.

Of course, this approach to treatment spinal muscular amyotrophy is relevant only when diagnosing the second or third form of the disease.

Physical therapy

Additional support for a patient suffering from spinal muscular atrophy of the second and third types is no less important than diet. First of all, with the help of normalized load, you can prevent the progression of joint contracture, as well as maintain strength, endurance and independence in self-care.

Physical exercise plays a fairly significant role in the educational, social, psychological and professional activities of the patient, since he will have the opportunity to lead an almost normal lifestyle, like healthy people.

It's scary to find out that the baby will never sit, stand, or run. It’s even scarier to see how normally growing and developing child suddenly begins to slowly fade away, constantly falls, after a few months he cannot climb the stairs, and one day he loses the ability to simply stand up.

Doctors combine several types hereditary diseases characterized by movement disorders, into one group called spinal muscular atrophy. In ICD-10 they are coded G12 with additional indications of the type of disease.

According to researchers, about 0.01-0.02% of children are born with a diagnosis of SMA. The pathology occurs more often in boys and men.

Spinal muscular atrophy is found mainly in children in early age. However, some forms of the disease begin to appear only in adolescents or adults. The insidiousness of pathology lies in the fact that it gradually, day after day, takes away from patients what they were able to achieve.

Pathology was first described by G. Werdnig. He drew attention to equilateral atrophy of the spinal cord, its anterior horns, and peripheral nerve roots in 1891. Already in next year J. Hoffman was able to prove that we are talking about independent illness. In the middle of the 20th century. researchers E. Kugelberg and L. Welander described a pathology that occurs at a later age and has a more favorable prognosis.

Symptoms

Each type of SMA has its own special symptoms, but there are some symptoms that make it possible to combine disparate diseases into one group. This:

Increasing muscle weakness and atrophy.
With a disease that appears after 1-2 years, degradation of already achieved abilities, for example, running and walking, is noticeable.
Tremor of fingers. Trembling is also observed in the tongue.
Skeletal deformation.
Preservation of intellectual and mental health in most patients.

Types of SMA

Age, time of onset of symptoms, features of the course of the pathology, and prognosis make it possible to distinguish several types of diseases.

This form of pathology is rarely described; it is often combined with the first type of SMA. The disease is congenital. It is characterized by a complete lack of movement, tendon reflexes, muscle weakness, and limited movement of the knee joints. Respiratory disturbances have been observed since birth.

The diagnosis is often confused with birth injuries. However, in the last two cases, children adapt quickly enough, their condition becomes better. Children with SMA do not experience improvement; in most cases, they die before reaching the age of one month from complications.

Pathology of the first type has a very severe course. It is also called Werdnig-Hoffman disease. This type can be diagnosed from birth to 6 months. There is muscle weakness and periodic twitching - the latter is quite difficult to see due to the rather large layer of fat. Trembling may periodically run through the baby's tongue.

There is a worsening of the gag, sucking, swallowing reflex, and impaired salivation. The baby cannot cough or scream loudly. Often accompanied by severe respiratory disorders, pneumonia.

The chest of such children has a flatter shape due to poorly developed chest muscles.

Babies with spinal amyotrophy of Werdnig-Hoffmann are easily recognized by their frog pose. Hips and shoulders abducted, elbows and knees bent.

By 6 months, a child can learn to hold his head up, but will almost never be able to sit down, stand up, or walk on his own. Problems with swallowing cause difficulty feeding.

Often this disease is accompanied by oligophrenia, congenital heart disorders, and small head size.

Late infancy

Pathology of the second type is found in children aged from six months to one and a half to two years. Dubowitz disease is characterized by weakness and tremors in the deep parts of the muscles, trembling of the fingers, tongue, and limited range of motion of the limbs. Children are distinguished by low weight and developmental delay. They sit and eat themselves, but cannot get up or walk.

The disease is progressive. Over time, the muscles of the chest and neck weaken, tendon reflexes disappear, swallowing disorders, and a weak voice are noted. The patient can be recognized by his drooping head.

Juvenile

Kugelberg-Welander pathology is often diagnosed after 2 years. It is considered relatively mild form SMA, many patients live up to 30-40 years. The man is standing, but it is difficult for him to do so because weak muscles. Gradual muscle atrophy occurs.

A child up to 10-12 years of age develops normally, then begins to stumble, falls, loses the ability to play sports, run, leave the house, or simply move around without wheelchair. The patient suffers from periodic severe scoliosis developing, and the shape of the chest changes.

These patients often experience fractures and have a limited range of joint motion.

Late pathologies

The fourth type includes bulbospinal amyotrophy Kennedy, distal amyotrophy Duchenne-Aran, and peroneal amyotrophy Vulpian. The diseases are usually diagnosed at the age of 35-40 years, sometimes the age limits extend from 16 to 60 years. The patient notes a gradual loss of muscle strength, fading tendon reflexes, and visible muscle contractions.

In Duchenne-Harran atrophy, the hands are primarily affected. Vulpian amyotrophy can be recognized by the formation of wing-shaped blades.

Causes and mechanism of development of the disease

Spinal amyotrophy develops due to a mutated SMN gene on the fifth chromosome. If both parents are carriers, there is a 25% chance that the child will be born affected.

A mutation in the SMN gene leads to disruption of protein synthesis, resulting in the destruction of spinal cord motor neurons. Nerve impulses do not pass to the muscles, which atrophy due to inactivity, and the person loses the ability to move.

It is believed that the deep-lying muscle tissue loses its performance first.

Diagnostics

The most accurate method for determining spinal muscular atrophy in children is DNA testing. It is carried out both in the newborn baby and during intrauterine development. Additionally conducted next research:

Biochemistry analysis. The goal is to determine the level of enzymes: anine aminotransferase, lactate dehydrogenase, creatine kinase. Their normal content allows us to exclude suspicions of progressive muscle dystrophy.
The method is aimed at registration bioelectrical activity. The pathology is characterized by a “picket fence” rhythm.
MRI. Prescribed to detect signs of muscle atrophy.
Microscopy of the spinal cord. There are signs of degenerative processes in the cells of the nerve processes. They shrink and swell, while the glial fibers have a dense structure.
Tandem mass spectrometry. The study helps clarify the level of amino acids and protein of the SMN.
Histological examination striated muscles. The results will show groups of small fibers.

If young people planning to have a child have relatives with SMA pathology, they are recommended to undergo a genetic examination.

Treatment

The main goal of research aimed at treating spinal muscular amyotrophy is related to increasing the level of SMN protein. Currently medications are being tested and official Russian medicine doesn't use them.

Treatment today includes medications that improve the passage of impulses. This is Prozerin, Galantamine. Nootropic drugs (Nootropil) are prescribed, the main task of which is to improve brain function. Medicines are used to normalize metabolism, for example, Actovegin. Dietary supplements are prescribed to improve metabolism. Vitamin therapy is indicated, in particular, taking vitamins B, C, E. Anabolic steroids accelerate protein synthesis.

For scoliosis and other spinal pathologies that develop with Dubowitz and Kugelberg-Welander disease, orthopedic correction is indicated.

Important treatment methods are massage, physiotherapy, and neuromuscular stimulation. Exercise therapy is prescribed. Physical exercise They help maintain strength, on the other hand, doing them in society, going to the pool helps to socialize and communicate with other people.

Patients with SMA are advised to follow a diet. Food is a source of substances needed by muscles. Thus, essential amino acids are found in grains, meat, fish, mushrooms, nuts, fermented milk products. Recommended dishes made from oats, wheat and brown rice.

Spinach, broccoli, herring, onions, grapefruit, and watermelon will help to naturally maintain and grow muscles. To increase testosterone, men are recommended to take dill, parsnips, ginseng, and parsley.

Forecast

How the disease develops and how many years the child will live depends on its type.

With type one atrophy, the prognosis is extremely unfavorable. About 50% of babies do not live to be two years old. No more than 10% of children with Werdnig-Hoffman disease can live to be five years old. The cause of death is most often pneumonia, respiratory arrest, or cardiac arrest.

Patients diagnosed with Dubowitz disease live on average up to 10, sometimes 12 years. About 30% of children die before reaching four years of age.

In SMA type III, infant mortality is less common. For many patients, symptoms begin in their preteen to teenage years. After a few years they stop walking. Further, progressively, atrophy of the muscles of the internal organs, including the respiratory ones, is noted.

It is believed that type IV disease does not affect life expectancy, however, it leads to disability.

Prevention

There are no measures aimed at preventing and preventing the development of SMA. A woman expecting the birth of a child may suspect a problem by noticing the weakness of fetal movements. A DNA analysis can confirm or dispel suspicions. If necessary, a medical commission is held, which may recommend termination of pregnancy. The doctor must talk about the disease, its course and consequences.

After diagnosing the disease in an already born child, he is surrounded with care and attention. Using the system artificial ventilation lungs, sputum suckers, special devices for the movement of a baby who can move around, help improve the quality of life and help the child live. It is recommended to regularly do massage and physiotherapy. Children, even those with limited mobility, are taken to the pool.

Spinal amyotrophy is a dangerous, yet untreatable pathology. It is characterized by muscle atrophy. Occurs in at different ages. The prognosis in most cases is unfavorable.

The following sources were used to prepare the article:

Seliverstov Yu. A., Klyushnikov S. A., Illarioshkin S. N. Spinal muscular atrophy: concept, differential diagnosis, treatment prospects // Journal Nervous diseases — 2015

Lepesova M. M., Ushakova T. S., Myrzalieva B. D. Differential diagnosis spinal muscular amyotrophy of the first type // Bulletin of the Almaty State Institute for Advanced Training of Physicians - 2016

How helpful was the article?

Save

As you found this post useful...

We are sorry that this post was not useful for you!

Let us improve this post!

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

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

With muscle atrophy, damaged chromosomes contain a mutation of the gene that is responsible for protein synthesis in the body. This disorder causes complete muscle dysfunction. Over time, the patient is responsible for important life processes. The breathing and swallowing reflex gradually disappears. The muscle tone of the whole body invariably decreases, the face becomes distorted.

When spinal muscular atrophy appears in adulthood, it means that a pathologically altered chromosome was passed on from one of the parents. Adult spinal amyotrophy occurs only in males because it is linked to the X chromosome. First signs of this disease in men they manifest themselves in adulthood and old age. An adult can live with such a pathology for quite a long time. However, it is necessary to constantly support the body with medications, 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 to internal organs and their systems, smoking, and alcohol abuse.

The outcome of this pathology is always fatal. How long a patient diagnosed with spinal muscular atrophy as an adult will live depends only on himself. With proper treatment and timely diagnosis, motor neurons in 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 manifestation, the severity of symptoms, and 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:

. This type of disorder manifests itself from the first days of a child’s life, which is why it is also called infantile muscular atrophy.
Dubowitz disease. This is the so-called intermediate type, the signs of which are found in a child from 7 months to two years.
Kugelberg-Welander disease. This term refers to the juvenile type of spinal muscular atrophy. Signs are first noted in older children and invariably progress.
Adult type of the disease. Older and elderly men suffer from this disorder. Correct treatment can slow down destructive processes and prolong the patient’s life for a long time.

All types of such deviations and dysfunctions of the nervous system are similar in one thing: it is completely impossible to cure them. Spinal muscular atrophy takes the lives of children most quickly.

If the first 2 types are considered almost hopeless, then Kugelberg-Welander disease and amyotrophy in adulthood can be controlled thanks to medications, special procedures and physical therapy. Only a doctor can treat such disorders. folk remedies powerless.

When you detect the first signs of the disease, you need to contact a geneticist, neurologist or neurologist. Doctors will conduct all the necessary examinations, make an accurate diagnosis and tell the patient or his relatives what needs to be done next. Following all doctor's recommendations, spinal muscular atrophy It can be, if not overcome, then significantly slowed 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 thousand children under two years of age. Statistics say that 7 babies out of 100 thousand newborns show the first symptoms from the first day of life outside the womb.

When diagnosed, it is discovered that the cells of the anterior horns of the spinal cord are not sufficiently developed. Cranial nerves are often subjected to pathological changes. Skeletal muscles They still retain individual 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 subtypes of this disease:

congenital;
early childhood;
late children's

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

As the child grows, paresis of the diaphragm, 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 incompetent person. When the breathing and swallowing reflexes are completely disrupted, the patient dies from heart failure, lack of air or digestive problems.

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

Signs of the late form begin to appear by age 2. 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 on average up to 30 years.

Kugelberg-Welander disease: clinical picture, survival

Kugelberg-Welander spinal muscular atrophy differs from Werdnig-Hoffmann disease in that it is a relatively benign process. This means it is developing this pathology 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 capacity. A person with this disorder can move independently, go to work, go shopping, etc.

Patients have the opportunity to bear and give birth to children until a certain age, until the disease has spread throughout the body. However, there is a high probability that the disorder will be inherited. If one partner is healthy, this is also not a guarantee that the children will be healthy. Planning pregnancy in such cases should be accompanied by consultation with a geneticist, since pathologically altered chromosomes can be seen in the child already at early stages 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 becomes apparent much later. This also happens in adolescence, even if no problems with the musculoskeletal system were observed before.

The first alarming symptoms are situations when a child often stumbles, finds it difficult to walk up the stairs, and when walking his knees twist or buckle. Later, scoliosis, chest deformation, hand tremors, and lower extremity spasms may be detected.

At first, the disease only affects lower limbs. At a later age, motor skills of the upper body are impaired. However, a person retains mobility almost until old age. The key to a long life in this case is special therapeutic exercises, abandonment of a sedentary lifestyle 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 of complete disability. People with this disorder are handicapped, but they can lead a normal life and manage without outside help for many years from the date the first symptoms appear.

Diagnosis, treatment and prevention

Spinal muscular atrophy can be diagnosed using biochemical analysis blood, muscle biopsy and EMG studies. Based on the data obtained, the type of disease, the degree of damage is 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 from many countries are actively working in this direction and developing new ways to treat and prevent this neurological disorder.

In recent studies, medical scientists have concluded that treatment is most effective with the use of sodium butyrate and valproic acid. However, a ready-made vaccine that would relieve 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 rate of development of pathological processes.

In addition, patients are prescribed certain medications. Nivalin and Prozerin qualitatively improve the passage of impulses from the brain to muscle cells. Actovegin can improve blood circulation and speed up metabolic processes. This makes it possible to form new healthy cells that will not slow down the proliferation of pathologically modified structures. Piracetam and Nootropil help improve blood supply to the central nervous system.

There is no prevention for this disease. The only thing that can help is a genetic consultation at the pregnancy planning stage. 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 likelihood of having a sick child is extremely high.

Spinal muscular atrophy (amyotrophy) Werdnig-Hoffmann is a hereditary malignant disease, the onset of development of which occurs from birth to 1-1.5 years. This is one of the most severe forms of muscle atrophy. There is a diffuse increase in muscle atrophy throughout the body. The child loses the ability to sit and move independently, and paresis progresses.

The disease was first described by scientists Werdnig and Goffman. They proved the morphological essence of spinal amyotrophy. But they assumed the existence of only one form of the disease. Later, other scientists Welander and Kueckelberg described a different form spinal atrophy muscles. All variants of the disease have the same genetic nature. Today there are no methods that can completely cure this pathology. Therapeutic measures are aimed at improving the trophism of muscles and nervous tissue.

Reasons for the development of pathology

Werdnig-Hoffmann spinal muscular atrophy is hereditary. The disease develops due to mutational changes in the fifth chromosome. The gene responsible for the production of the protein compound SMN is mutated. Due to the synthesis of this protein, motor neurons develop and function normally.

When a gene mutates, these neurons become underdeveloped or completely destroyed. This makes it impossible to transmit impulses from the nerve to the muscle. The muscle tissue remains inactive and immobilized.

Spinal muscle atrophy develops when mutated chromosomes from both parents match. Thus, for a child to develop Werdnig-Hoffman syndrome, the father and mother must carry the pathological gene. But they themselves do not necessarily have to have this disease, since the paired dominant gene is healthy. The probability of a child becoming sick with spinal amyotrophy if each parent has a mutation gene is 25%.

On a note! On average, 2 people per hundred of the population are carriers of the pathological gene. For every 6-10 thousand newborns, there is 1 case of Werdnig-Hoffman syndrome.

Symptoms and forms of the disease

There are several types of spinal muscular atrophy:

early childhood or congenital (SMA 1) - manifests itself in children under 6 months;
late childhood (SMA 2) - symptoms appear after six months;
juvenile (SMA 3) - manifests itself after 2 years.

Clinical manifestations of spinal muscle atrophy depend on its form. All spinal amyotrophies are characterized by muscle weakness and deterioration of tendon reflexes.

SMA I

The most malignant form of the disease. It begins to appear in children under six months of age. The problem can be suspected even during the period of intrauterine development by the sluggish movement of the fetus. From the first days of life, the baby experiences muscle hypotension. He doesn't hold his head up and doesn't turn over when the time comes. The child has no or weakly expressed sucking and swallowing reflexes. Fascicular twitching of the uvula is observed, the child cries weakly.

There are often difficulties respiratory function, shortness of breath, which are associated with partial paralysis of the diaphragm. Paresis of the respiratory muscles leads to respiratory failure, becomes common cause death of a child. The development of aspiration pneumonia due to the reflux of food into the respiratory tract due to impaired swallowing function is life-threatening.

Other accompanying symptoms of SMA 1:

chest deformation;
joint contractures;
Some have hydrocephalus and hip dysplasia.

SMA 2

The first symptoms are visible after 6 months. Until this time, the child’s development proceeds in accordance with age norms. He can already roll over, holds his head, and sometimes sits. Symptoms often appear after the child has had food poisoning or other infection.

First, paresis appears in the legs. Then there is a rapid spread to the arms and muscles of the body. Deep reflexes gradually fade away, muscle tone decreases. Deformed rib cage due to damage to the diaphragm. Trembling of the fingers and fasciculations of the tongue appear.

Later progresses respiratory failure. SMA 2 progresses more slowly than the early childhood form of Werdnig-Hoffman syndrome. Patients can live up to 15 years.

Juvenile form

The most benign form of spinal muscular atrophy. Begins to appear after 2 years. Sometimes symptoms are detected even after 15 years. The child develops mentally correctly. For a very long time, patients with this disease move independently. People with SMA 3 can live up to 40 years with supportive treatment.

The presence of pathology can be first suspected by an unsteady gait and increasing weakness in the legs. The muscles gradually become thinner. This may not always be obvious due to the fact that the fatty tissue under the skin is already well developed. The progression of the disease leads to gradual immobilization of the legs. Later, the pathological process also includes upper limbs. Facial muscles weaken, the chest becomes funnel-shaped.

Diagnostics

First you need to show the child to a neurologist. Although a neonatologist in the maternity hospital can still make a primary diagnosis. It is very important to determine when the first symptoms of the disease began to appear and how they developed. Doctor checking movement disorders in a child, his neurological status, the presence of bone deformities, finds out whether there are congenital anomalies in the anamnesis.

Spinal atrophy of the Werdnig-Hoffmann muscles should be differentiated from other diseases:

myopathies;
polio;
amyotrophic lateral sclerosis;
violations metabolic processes in organism.

To confirm the diagnosis, it is necessary to:

electroneuromygraphy (study of the state of neuromuscular structures);
blood chemistry;
, spinal column.

A definitive diagnosis can be made after a muscle biopsy and genetic testing are performed. DNA analysis reveals a gene mutation on the fifth chromosome. If you take a DNA test before the birth of the child, then the diagnosis of Werdnig-Hoffman syndrome will be an indication for artificial termination of pregnancy.

On the page, read about what spinal spondylodiscitis is and how to treat the disease.

General rules and methods of treatment

There are no techniques that could relieve Werdnig-Hoffmann spinal muscular atrophy. Therapy is symptomatic and its goal is to alleviate the patient’s general condition and stop the progression of the disease. For these purposes, combinations of several groups of drugs can be prescribed.

To enhance the metabolism of nerve and muscle tissue:

Lipocerebin;
Cerebrolysin;
Tocopherol acetate;
Piracetam.

To facilitate neuromuscular conduction:

Galantamine;
Ipidacrine;
Prozerin;
Dibazol.

To improve the trophism of motor neurons:

Methionine;
Glutamic acid;
L-carnitine;
Riluzole.

To stimulate blood circulation:

Niacinic acid;
Complamin;
Scopolamine.

Additionally, to improve motor activity, orthopedic procedures, massage courses, exercise therapy, and physiotherapy are prescribed.

Werdnig-Hoffmann spinal muscular atrophy - hereditary pathology, the prognosis of which is unfavorable. If the disease manifests itself immediately after birth, the child dies in most cases before 6 months. With later manifestation clinical symptoms and slow progression of the disease, the patient can live up to 14-15 years, and with SMA 3 and up to 40 years. Unfortunately, spinal amyotrophy cannot be treated. Therefore, it is very important to find out the likelihood of developing a dangerous pathology at the prenatal stage or go through all necessary research at the beginning of pregnancy planning.

Learn more about what spinal muscular atrophy is by watching the following video:

Spinal muscular atrophy (SMA) - genetic disease, affecting the area of the nervous system responsible for controlling the movements of voluntary (skeletal) muscles.

Most of the nerve cells that control muscles are found in spinal cord, hence the word “spinal” in the name of the disease. The word “muscular” means that muscles that do not receive signals from these nerve cells suffer. Well, “atrophy” is the medical term for the wasting or “shrinking” that happens to muscles when they are inactive

In SMA, there is a loss of nerve cells in the spinal cord called motor neurons, which is why it is classified as a motor neuron disease.

The age of onset and severity of SMA varies among different people in a wide range

What causes SMA?

Most cases of SMA are caused by a deficiency of a motor neuron protein called SMN (survival motor neuron protein).

This protein, as its name suggests, is essential for the normal functioning of motor neurons. Recent evidence also suggests that the absence of SMN may also directly affect muscle cells

There are also forms of SMA that are not associated with the SMN protein

WHAT ARE THERE FORMS OF SMA?

SMN-related SMA

SMN – Related SMA is generally divided into 3 categories. Type 1 is the most severe, with the earliest age of onset, and type 3 is the least severe, with the latest age of onset. Some experts also identify type 4 to designate moderate or mild SMA with onset in adulthood

All of these types are associated with genetic damage (mutations) on chromosome 5, which affects the amount of SMN protein synthesized. More high levels protein reduce the severity of SMA. More details about how these mutations lead to the development of SMA are described in the section “Is this family?”

Non-SMN SMA

There are also forms of SMA that are not associated with SMN and are not the result of mutations on chromosome 5. Read more about this in the section "What happens to people with various forms SMA?

Spinobulbar muscular atrophy (SBMA)

This type of SMA, also called Kennedy disease, is the result of gene mutations on the X chromosome, and is significantly different from SMN-related types of SMA. More details can be found in the corresponding section.

WHAT HAPPENS TO PEOPLE WHO HAVE SMN-RELATED FORMS OF SMA?

The severity of SMN-related SMA depends on how early symptoms appear, which in turn is related to the amount of SMN protein in motor neurons. Later onset of symptoms and higher levels of SMN protein suggest a milder course of the disease

However, at present, most experts doubt such a strict dependence and prefer not to make unambiguous predictions on the severity and life expectancy, based only on the age of onset. Recent research supports such flexibility

SMA type 1 (Werdnig-Hoffman disease)

If children with SMA are very weak in the first months of life and have difficulty breathing, sucking and swallowing, it may be difficult to rely on good prognosis. Previously, it was believed that such children did not survive more than two years. And now, in most cases, this forecast turns out to be fair.

However, with the use of technology to replace the natural functions of breathing and feeding, such children can survive for several years. Mechanical ventilation (such devices have now become portable, unlike the “iron lungs” and heavy machines used in previous years) and feeding through tubes directly into the stomach, and not into the throat, can prolong life

Mental and emotional development, as well as sensitivity, are completely normal in SMA

SMA type 2 (intermediate SMA)

TREATMENT RESEARCH

The research picture of SMA associated with chromosome 5 has become significantly clearer in the last decade

There are some special circumstances relevant to the genetics of SMN-related SMA that have given researchers some special opportunities to intervene.

Since 1995, it has been known that the main gene that determines the development of the disease in humans is the SMN protein gene. This gene exists in two virtually identical versions, called SMN1 (also referred to as SMN-T), and SMN2 (or SMN-C)

Protein molecules synthesized based on the instructions of the SMN1 gene are longer than those synthesized based on the SMN2 gene. These longer (full length) SMN protein molecules are required for proper survival and function of motor neurons

The SMN2 gene ensures the synthesis of a certain amount of full-length protein, but this is not enough. Fortunately, many people have multiple copies of the SMN2 gene on one or both chromosomes 5. These "redundant" SMN2 genes may compensate somewhat harmful effects damage to both copies of the SMN1 genes. As a rule, the more copies of the SMN2 gene a person has, the more likely it is that the disease will be milder.

Many research strategies for the treatment of SMA are based on increasing the synthesis of full-length SMN protein based on the instructions of the SMN2 gene

Other directions are based on less specific methods that could help the survival of motor neurons in unfavorable circumstances.

For example, drugs based on neurotrophic factors (natural products of the body that have positive influence on nerve cells); Creatine is a substance that helps muscle and nerve cells in energy production

Also being studied are drugs such as gabapentin, albuterol, riluzole, hydroxyurea, and drugs belonging to the class of histone deacetylase inhibitors (in particular, phenylbutyrate and valproate).

Gene and cell therapy in development

Research on SBMA has focused primarily on blocking the formation of abnormal clumps found within cells in this disease; on the pathways of activity suppression male hormones, as well as on methods of influencing the process of “reading” genetic instructions by cells.?

Spinal amyotrophy Werdnig-Hoffmann: causes, symptoms, treatment. Spinal muscular atrophy

Spreading

Spinal muscular atrophy - symptoms

Read more about SMA symptoms

Treatment

Diet

Physical therapy

Symptoms

Types of SMA

Late infancy

Juvenile

Late pathologies

Causes and mechanism of development of the disease

Diagnostics

Treatment

Forecast

Prevention

How helpful was the article?

As you found this post useful...

We are sorry that this post was not useful for you!

Classification of types of spinal muscular atrophy

Werdnig-Hoffmann disease: symptoms and prognosis

Kugelberg-Welander disease: clinical picture, survival

Diagnosis, treatment and prevention

Reasons for the development of pathology

Symptoms and forms of the disease

SMA I

SMA 2

Juvenile form

Diagnostics

General rules and methods of treatment

WHAT HAPPENS TO PEOPLE WHO HAVE SMN-RELATED FORMS OF SMA?

TREATMENT RESEARCH