Hoffmann's spinal muscular atrophy in childhood. How is this pathology treated, as well as how to predict its further course. Classification of the disease Werdnig-Hoffmann amyotrophy

This is a group of hereditary diseases, the main feature of which is damage to the motor neurons of the anterior horns spinal cord, as well as damage to the roots of the IX, X, XII cranial nerves.

Spinal amyotrophy is characterized by a violation of the innervation of the muscles of the lower extremities, neck, head, and respiratory muscles. Important criteria productions correct diagnosis is the preservation of all types of sensitivity, normal muscle development upper limbs and the child's absence mental disorders. The incidence of the disease is 7 people per 100,000 births.

Causes of Werdnig-Hoffmann amyotrophy

The Werdnig-Hoffmann spinal amyotrophy (SMN) gene is localized on chromosome V and is inherited in an autosomal recessive manner. Parents whose chromosomes carry the SMN gene have a 25% chance of producing a child with spinal amyotrophy.

Pathomorphological changes in Werdnig-Hoffmann amyotrophy

During the study, a decrease in the volume of the spinal cord is noted. Ganglion cells atrophy or completely disappear. In the anterior roots, degeneration, demyelination, and sclerotic changes are detected nerve fibers(peri-, epi-, endoneurial) with fat deposition. In the skeletal muscles, atrophied bundles are found that are intertwined with intact fibers; hyalinosis and proliferation are noted. connective tissue.

Classification of the disease Werdnig-Hoffmann amyotrophy

By time of occurrence and degree dystrophic changes for spinal amyotrophy Werdnig-Hoffmann:

• Congenital (the appearance of symptoms of the disease in the first 6 months of life);

• Early childhood (from 6 months to 1.5 years);

• Late childhood (over 1.5 years).

Symptoms of Werdnig-Hoffmann amyotrophy

The most severe is the congenital form Werdnig-Hoffmann spinal amyotrophy. In children, flaccid paresis is observed already in the first minutes of life. Muscle weakness, reduced reflexes of the newborn period or their absence are revealed. Newborns suck the breast weakly, they have fascicular twitching of the tongue, and swallowing is difficult.
This form of the disease is accompanied by the formation of musculoskeletal deformities, in particular scoliotic; funnel-shaped or “chicken” breast; joint contractures. Very in rare cases the child has the ability to hold his head up and sits down. However, these abilities develop late and then regress. This disease often accompanied by congenital anomalies, such as hydrocephalus, dysplasia of the hip joints, planovalgus or planovarus deformities of the feet, undescended testicles into the scrotum, hemangiomas, etc. Children die before 9 months (less often up to 2 years) from cardiovascular or respiratory failure caused by hypotension pectoral muscles and muscles of the diaphragm.

Early childhood formsand Werdnig-Hoffmann spinal amyotrophy is characterized by manifestation in the second half of the year. A sick child promptly begins to hold his head up, sits, and sometimes he can even stand or walk. Further, after suffering alimentary enterocolitis, the condition progresses: flaccid paresis appears first on the legs, then rises to the body and upper limbs. Due to diffuse muscular atrophy, fascicular twitching of the tongue, contractures, and fine tremor of the hands are noted. Bulbar syndrome develops much later. The early childhood form of Werdnig-Hoffmann spinal amyotrophy is not as malignant as the first variant of the disease, however, death occurs by 12-15 years.
The late form of the disease manifests itself in preschool children. Against the background of imaginary well-being, when the child moves independently, jumps, runs, stiffness appears, movements become awkward (the gait of a “wind-up doll”), children often stumble. Skeletal muscle atrophy occurs gradually and slowly: first, flaccid paresis is observed in the lower parts of the lower extremities, then muscles are involved in the process lower sections upper limbs, torso. Muscle atrophy may remain unnoticed, because at this age the subcutaneous tissue is well developed fatty tissue. Gradually, reflexes such as the pharyngeal and palatine weaken and decrease unconditioned reflexes. The disease is accompanied by deformities supporting apparatus, most often this is “chicken” breast.
The prognosis with adequate and timely therapy is more favorable compared to the first two options. Patients can live up to 30-40 years. However, the ability to move independently disappears by 10-12 years.

In the literature, you can sometimes find a fourth form of the disease - an adult form, which manifests itself over the age of 35 years. This is an extremely rare and most favorable form of the disease, in which there is a disruption of the innervation only muscle groups lower extremities. These patients lose the ability to independent movement, but there are no breathing or swallowing problems. Adult form amyotrophy does not affect the life expectancy of patients.

Diagnosis of Werdnig-Hoffmann ADS

The diagnosis is confirmed based on clinical picture (early start atrophic changes, onset of degenerative changes in proximal muscle groups, muscle hypotonia, tongue muscle twitching, absence of pseudohypertrophy), ENMG (electroneuromyography) data, biopsy results muscle fibers, MRI, genealogical analysis (search for genetic mutations in parents and child). The disease has a rapidly progressive course.

Differential diagnosis Werdnig-Hoffmann amyotrophy

1. With other diseases characterized by “floppy child syndrome”;
2. Genetic metabolic diseases;
3. Oppenheim amyotrophy (currently considered by some experts as a variant of Werdnig-Hoffmann spinal amyotrophy);
4. Cerebral palsy;
5. Progressive muscular dystrophies (Duchenne and Erb-Roth);
6. Kugelberg-Welander amyotrophy;
7. Lead intoxication.

Treatment of Werdnig-Hoffmann amyotrophy

Spinal amyotrophy Werdnig-Hoffmann on this moment an incurable, constantly progressive disease. There is only symptomatic therapy: drugs that act on metabolic processes nerve tissue(cerebrolysin; aminolon; encephabol); nootropics (lucetam, nootropil); vitamins group B; massage and exercise therapy, special diet etc.

WITH genetic mutations spinal amyotrophy is associated with a decrease in the production of SMN protein, which leads to loss motor neurons. Task number one modern pharmacology with this disease, the search for a drug that can increase the level of SMN protein is needed.

Prevention Werdnig-Hoffmann amyotrophy

Consists in timely diagnosis genetic disorders from parents, prenatal DNA diagnostics. When a pathology is detected in the fetus, the issue of

WERDNIG-HOFFMANN SPINAL AMIOTROPHY .

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 are detected 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 muscle hypotonia and decreased or absent tendon reflexes are evident. Bulbar disorders are detected early, manifested by sluggish sucking, weak cry, tongue fibrillations, and decreased 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. Reduced intelligence. Often observed birth defects development: congenital hydrocephalus, cryptorchidism, hemangioma, dysplasia hip joints, clubfoot, etc.

The course is rapidly progressive and malignant. Death occurs before the age of 9. One of the main causes of death is severe somatic disorders(heart and respiratory failure), caused by muscle weakness chest 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 or 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 and tendon reflexes decrease. IN late stages Generalized muscle hypotonia and symptoms of bulbar palsy occur.

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

At late form signs of the disease appear at 1.5 - 2.5 years. The disease begins unnoticed. Movements become awkward and uncertain. Children often trip and fall. The gait changes - they walk with their legs bent at the knees (the gait of a “wind-up doll”). Flaccid paresis is initially localized in the proximal muscle groups of the legs, then relatively slowly moves to the proximal muscle groups of the arms and trunk muscles; muscle atrophy is usually subtle due to the well-developed subcutaneous fat layer. Fasciculations, fibrillations of the tongue, fine tremor of the fingers, bulbar symptoms - fibrillations and atrophy of the tongue, decreased pharyngeal and palatal reflexes are typical. Tendon reflexes fade away early stages diseases. Osteoarticular deformities develop parallel to 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 type of inheritance, early onset, the presence of diffuse atrophies with predominant localization in the proximal muscle groups, generalized muscle hypotonia, fasciculations, tongue fibrillations, absence of pseudohypertrophies, progressive, malignant course, electromyography and skeletal muscle morphology data revealing the denervation nature of the changes.

Werdnig-Hoffmann disease is an extremely severe pathology, which is accompanied by amyotrophy, the gradual destruction of the main nerve fibers of the spinal cord, and, accordingly, it is immediately worth noting that it is transmitted in an autosomal recessive manner.

What is Werdnig-Hoffmann disease?

This neurological disease, accompanied by gradual destruction of the main innervating structures nervous system. For example, demyelination of the anterior roots of the spinal cord is often observed. In addition, the disease also affects some cranial nerves.

Of course, damage to nerve fibers affects the condition of the muscles. However, this disease is characterized by the so-called fascicular muscle lesion, in which part of the muscle tissue retains the ability to contract, while individual “bundles” atrophy.

Werdnig-Hoffmann spinal atrophy manifests itself in childhood. Today, it is customary to distinguish three main forms of the disease.

Congenital Werdnig-Hoffmann disease and its symptoms

As a rule, the first symptoms of this form of the disease are noticeable already in the first days after the birth of the child. The baby has sluggish cries. The cries of sick children are weak and barely audible, in addition, their feeding process is disrupted.

As the child grows, a lag in physical development may be noticed. Sick children cannot hold their heads up and can neither sit nor stand. Only in rare cases is the baby able to hold the body in vertical position, but this ability also disappears quite quickly as the nerve fibers are destroyed.

The course of the disease in question is malignant, and degeneration nerve endings progresses quickly. Atrophy is not only susceptible to skeletal muscles, but also fibers internal organs. The diaphragm is often affected, leading to the development of respiratory failure. Unfortunately, children with similar disease live (on average) to the age of nine.

Early Werdnig-Hoffmann disease

The main signs of the disease appear in the second half of life. First few months physical development The child's pregnancy progresses quite normally - the baby learns to hold his head up and sit down, sometimes he can even sit up on his own. But all these skills are lost after the disease is activated. By the way, the syndrome is often provoked by an infection.

Finger tremors and tendon contractures are the first symptoms of nerve fiber destruction. Subsequently, muscle atrophy and paralysis develop. Average duration The lifespan of patients ranges from 14 to 16 years.

Late form of Werdnig-Hoffmann disease

This disease is more mild. As a rule, a child develops quite normally until the age of two. The baby learns to sit, stand and walk. Only over time do parents begin to notice some deviations.

First, the sick child's gait changes - he walks with his legs strongly bent at the knees, and often falls, unable to maintain balance. As the pathology develops, some changes in the skeleton can be noticed, in particular, Werdnig-Hoffmann syndrome is characterized by severe hand tremors, decreased muscle tone, and the disappearance of the main

In most cases, by the age of 10-12 years, the child completely loses the ability to move independently. However, in in this case patients live up to 20, and sometimes up to 30 years.

Spinal amyotrophy of Werdnig Hoffmann is inherited and this malignant disease nervous system. Almost all muscle fibers become weak. The patient cannot sit or move independently. Doesn't exist today effective way treatment of pathology.

As a rule, the disease is detected from birth to one and a half years. This is the most severe form of muscle atrophy in which paresis develops. The disease is very rare, approximately one case per ten thousand people.

There are four types, they differ in symptoms and life expectancy of the patient. All forms of pathology appear common feature, this is a violation of mental functions and sensitivity.

In area pelvic organs no changes occur. All signs appear with a violation of the motor system.

Spinal amyotraphy type 1

There is a violation of swallowing and sucking functions. It becomes difficult for the child to move the tongue and it is noticeable that a wave-like contraction appears on it. The baby's cries are faintly audible. If swallowing functions decrease, then there will be problems with nutrition, as food will enter the respiratory system. As a rule, this leads to the development aspiration pneumonia and the baby could die because of this.

If the intercostal muscles are damaged, there will be disturbances in the respiratory system. This may not be noticeable at first, but over time the child's condition will worsen. As a rule, the facial muscles that respond to eye movements are not impaired. The child does not sit, cannot hold and turn his head and reach for toys. If there were any movements developed before spinal amyotrophy, then they will disappear.

In addition to these disorders, deformation also occurs thoracic. If the disease becomes noticeable immediately after the child is born, then he lives no more than six months. If the pathology developed after three months, then the baby will live for about two years. Death may occur much earlier, even due to infectious lesion respiratory system. Spinal amyotrophy of Werdnig can occur together with other congenital pathologies.

Spinal amyotraphy type 2

The disease develops in a child from six months to two years. Until this moment, no changes are noticeable. The child independently holds his head, sits, rolls over and even walks.

Then there is a slight weakness in the muscles, as a rule, this occurs in the thighs. Little by little, the child begins to have difficulty walking and his tendon response decreases. Muscle weakness develops slowly but occurs over time muscle atrophy. The muscles of the respiratory system are also impaired.

As with the first type of spinal amyotrophy, damage to the eye and facial muscles does not occur. There may be trembling in the hands, twitching of the tongue, arms and legs. Further muscle weakness develops in the neck and this leads to the fact that the head hangs down. There may also be thoracic deformity and scoliosis. The form of the disease is benign and most often there may be a violation of the respiratory system in adolescence.

Spinal amyotrophy type 3

The disease often occurs in patients between the ages of two and fifteen years. Symptoms include abnormal gait and muscle weakness in the limbs.

Then there is a decrease in tone in the legs and against this background atrophy develops. Such changes may not be noticeable, since at this age there is a good subcutaneous fat layer. The child begins to constantly stumble and fall. Over time, the patient finds it difficult to move and eventually stops walking.

Later, damage to the upper extremities may also occur. Then a violation of the facial muscles occurs, and the patient moves his eyes without problems. The reflex of those muscles that are already affected disappears. Deformation of the skeleton and joints may occur. With such a disease, if there is necessary treatment the patient lives until about forty years of age.

Spinal amyotrophy type 4

This type of spinal amyotrophy occurs in adulthood after 35 years. Pathology manifests itself in the form of muscle weakness in the limbs and decreased reflexes.

Against this background, muscle atrophy develops further, which leads to loss of leg mobility. Respiratory system in this case it does not suffer. The patient can live with such a disease as usual healthy man. This type of pathology is the most benign compared to others.

Diagnostics

On early development the disease can be difficult to diagnose accurate diagnosis, since the symptoms are similar to other diseases. First of all, the child should undergo a consultation with a neurologist. If the baby has a disease at birth, then an approximate diagnosis can be made in the maternity hospital. The specialist conducts an examination and checks for violations of the motor system.

The following studies are being carried out:

• Magnetic resonance imaging prescribed to check the spine. It is necessarily used for spinal amyotrophy, because it allows you to understand the state of the area of ​​interest. The procedure is considered safe because it does not worsen a person’s health. Moreover, it is recommended even for children who have Werdnig's amyotrophy. If specialists and parents understand that the minor will not be able to lie still for about an hour, then the question of using anesthesia may arise. In any case, you should not refuse MRI, it will allow you to learn a lot useful information about the state of health and the development of Werdnig amyotrophy.

• Electroneuromyoghaphy helps to study the condition of nerve and muscle endings. This is also required in order to understand how severe the disease is. If a person has spinal amyotrophy, then it is important to collect as much information as possible about the state of the body. In particular, you will have to undergo this examination.

• Genetic diagnostics makes it possible to identify gene mutations. This is relevant for cases where Werdnig's amyotrophy is present. Of course, the examination is not the simplest, and not all clinics can carry it out. Moreover, it is mandatory for those people who are faced with spinal amyotrophy.

Congenital pathology can be detected before the baby is born. Diagnosis is carried out if a girl experiences weak fetal movement. Then the pregnant woman should go to the hospital for a full examination.

DNA diagnostics are carried out not only to detect pathology in the baby, but also during pregnancy up to 38 weeks. If there is a suspicion of congenital pathologies in a child, then it is best to undergo an examination before birth.

Treatment

Werdnig's spinal amyotrophy- This genetic disease which cannot be completely cured. Therapy provides an opportunity to support vital functions to prevent complications. For this reason, you should not be blind to the state a person is in. You will definitely have to take measures to maintain your health in the best possible way.

As a rule, a specialist prescribes medications, massage treatments, physical therapy. Only in combination can it be possible to cope with spinal amyotrophy. It will have to start from individual characteristics the patient's body.

Because it is important to choose the right measures that can weaken clinical manifestations Werdnig's amyotrophy. If you follow all the doctor’s recommendations, this will help not to worsen the patient’s condition. Moreover, when the right approach health will also improve.

Appointed the following drugs for spinal amyotrophy:

• Medicines Nivalin, Proserin help improve the passage of impulses. This is required in cases where a person develops spinal amyotrophy.

• Products Potassium Orotate, Lidaza, A nicotinic acid normalize metabolic process and improve blood flow. At the same time, it is extremely important to activate blood circulation, because the condition of the entire body depends on it. The dosage of drugs is prescribed depending on the person’s well-being. You may also need to choose specific medications based on how well specific medications help a person.
• B vitamins Milgamma, Neuromultivit improve muscle innervation. They also generally strengthen the body, and this is necessary for spinal amyotrophy. It can be said unequivocally that vitamin complexes will not be superfluous. At the same time, their advantage is that they do not harm health.

• Nootropic drugs Nootropil, Pirates help bring blood circulation back to normal. They also help improve the function of the central nervous system and activate brain activity. When Werdnig's amyotrophy is diagnosed, then drugs of this group cannot be avoided.

Use medicines must be done with caution and under medical supervision, as there are a number of side effects. As is known, there is a low probability of survival among people who suffer from Werdnig's amyotrophy. Newborns with congenital pathology have little involvement from the doctor. If severe muscle weakening occurs, splinting may be done.

If scoliosis occurs during spinal amyotrophy, this leads to curvature of the vertebrae and is considered a severe form of the disease. The operation should only take place if doctors see the need for it. It is imperative to follow a diet, as this plays an important role in the treatment of Werdnig amyotrophy.

If treatment is started on time, then Werdnig's amyotrophy will be at least a little easier for a person to tolerate. This is why people should immediately seek medical assistance and worry about getting through full diagnostics. As already mentioned, Werdnig's amyotrophy cannot be completely cured. At the same time, it will be necessary to combat its manifestations so that the condition of the patient who suffers from the disease can be improved.

Werdnig-Hoffmann spinal muscular atrophy is a progressive neuromuscular pathology that is inherited. The disease leads to damage to the proximal striated muscles of the trunk, lower extremities and neck.

Causes

This is a hereditary pathology, which is based on mutation in human chromosome 5. As a result, the synthesis of the SMN protein, which is required for normal development motor neurons.

The disease leads to the destruction or development of defective nerve cells, unable to transmit impulses to muscle fibers. Therefore, the innervated muscles stop working and atrophy develops.

According to statistics, every second person is a carrier of a pathological gene.

The mutated gene is characterized by autosomal recessive mode of inheritance– for the development of the disease, the coincidence of two incorrect chromosomes from the mother and father will be required.

A sick child is born only from parents who are carriers of the pathological gene. However, the mother and father have a healthy dominant gene, so they do not show symptoms of the pathology.

Clinical picture of the disease

The symptoms and severity of SMA are determined by the time of manifestation of the first signs of the disease. Therefore, doctors distinguish 3 types of disease:

1. congenital form;
2. early childhood;
3. late form.

It is worth considering each of the forms in more detail.

Features of the congenital form

The birth of children with flaccid paresis is typical. Newborns are diagnosed with generalized muscle hypotension, lack of deep reflexes. Bulbar disorders lead to the fact that the baby sucks sluggishly, cries quietly, and has a reduced pharyngeal reflex. Over time, the child is diagnosed with paresis of the diaphragmatic muscle.

Symptoms of spinal amyotrophy of Werdnig-Hoffmann appear in 1 child out of 10 thousand newborns.

The disease is often combined with deformities of bones and joints(funnel-shaped sternum, scoliosis, joint contracture). Characterized by slow development of static and locomotor functions, only a limited number of babies are able to hold their head up on their own. However, this skill can quickly regress.

Many patients with the congenital form of spinal myopathy have reduced intelligence and developmental defects (clubfoot, hydrocephalus, hemangioma, cryptorchidism).

The disease develops quickly and is characterized by a malignant course. Patients rarely survive beyond 9 years of age. The cause of death is somatic pathologies.

More than 50% of children who suffer from the congenital form of Hoffmann-Werdnig amyotrophy do not live to see 2 years of age.

Symptoms of the early childhood form

The syndrome is characterized by the development of the first signs of pathology in infants older than 6 months. At the same time, patients have satisfactory motor development: they are able to hold their heads, sit, and sometimes can stand. Subacute development of the disease against the background of intoxication or an infectious disease is typical.

Myopathy leads to the appearance of flaccid paresis of the legs, which rapidly spreads to the muscles of the torso and arms. This provokes a decrease in muscle tone and deep reflexes. In the later stages, the child is diagnosed with generalized muscular hypotonia and bulbar palsy.

The prognosis for the pathology is unfavorable - the disease has a malignant course, children rarely live beyond 15 years.

Late form

The first signs of pathology appear after the formation of locomotor and static functions is complete. Therefore, many children can run and walk independently. Characteristic is the gradual development of myopathy, which manifests itself in awkward and uncertain movements of the child. Gradually, the gait begins to change - children walk like wind-up dolls, constantly bending their legs at the knees.

Flaccid paresis is initially localized in lower limbs, but gradually spreads to the muscles of the trunk and arms. The child has a well-developed subcutaneous fat, therefore, muscle fiber atrophy is hardly noticeable. Gradually, the patient develops bulbar symptoms and tremor of the fingers.

In the early stages of SMA, deep reflexes fade and the chest begins to deform.

The disease has a malignant course, but symptoms develop more slowly than in previous forms. Children lose the ability to move independently only by the age of 10. Death usually occurs before age 30.

Diagnostic measures

To make a diagnosis great importance has the age of onset of the first symptoms of the pathology, the dynamics of development and the patient’s neurological status (impairments motor functions against the background of preservation of sensitivity), the presence of bone deformation and congenital anomalies development. Congenital form SMA is usually diagnosed by neonatologists.

Comprehensive diagnostics involves the following activities:

To reduce the risk of having a child with SMA, it is recommended to conduct prenatal DNA testing. However, diagnostic material can only be obtained through invasive techniques(amniocentesis, chorionic villus biopsy, cordocentesis). If amyotrophy was diagnosed in utero, then termination of pregnancy is indicated.

Features of disease therapy

Spinal myopathy is an incurable pathology, so treatment can only alleviate the patient’s condition. For this purpose, the following drugs are used:

• anabolic steroid;
• B vitamins;
• agents that improve the metabolism of muscles and neurons;
• drugs that improve neuromuscular conduction.

Additionally, a course is prescribed massage and exercise therapy, physiotherapy (muscle electrical stimulation, oxygen therapy), orthopedic correction. The patient must adhere to a dietary diet.

If respiratory failure develops, the sick child is connected to a device artificial ventilation lungs to restore breathing. In case of severe violation swallowing reflex the use of a gastrostomy feeding tube is indicated. Most patients with SMA need to use a wheelchair.

Scientists from around the world are conducting Scientific research to create a drug that can increase the production of the SMN protein. However at the moment scientific work did not bring the desired result.

The disease has no specific methods prevention. Only consultation with a geneticist at the stage of pregnancy planning can reduce the risk of developing pathologies in an unborn child. If necessary, a genetic study is performed to determine the presence of a pathological gene in the parents.