Werdnig-Hoffmann Syndrome

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  • 1Werdnig-Hoffman's disease
    • 1.1Etiology of the disease Verdnig-Hoffmann
    • 1.2Symptoms of the disease
    • 1.3Forms and stages of the disease
    • 1.4What is the danger of the disease?
    • 1.5Diagnosis and treatment of Verdnig-Hoffmann's disease
    • 1.6Prognosis of the disease Verdnig-Hoffmann
  • 2Amyotrophy of Werdnig-Hoffmann
    • 2.1The causes of amyotrophy of Werdnig-Hoffmann
    • 2.2Treatment and prognosis of amyotrophy of Werdnig-Hoffmann
  • 3Spinal amyotrophy of Werdnig-Hoffmann - causes, symptoms, diagnosis, treatment
    • 3.1The causes of amyotrophy of Werdnig-Hoffmann
    • 3.2Pathomorphological changes in amyotrophy of Verdnig-Hoffmann
    • 3.3Classification of the disease of amyotrophy of Werdnig-Hoffmann
    • 3.4Symptoms of amyotrophy of Werdnig-Hoffmann
    • 3.5Diagnosis of ADD Verdnig-Hoffmann
    • 3.6Differential diagnosis of Verdig-Hoffmann amyotrophy
    • 3.7Treatment of amyotrophy of Werdnig-Hoffmann
    • 3.8Prevention of Verdig-Hoffmann amyotrophy
  • 4Spinal amyotrophy of Werdnig-Hoffmann
  • 5Children's amyotrophy spinal Verdig-Hoffmann: symptoms of the syndrome of a flaccid child and treatment
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    • 5.1Causes
    • 5.2Clinical picture
    • 5.3Characteristics of the congenital form
    • 5.4Characteristics of the early childhood form
    • 5.5Characteristics of the late form
    • 5.6Diagnosis of Verdnig-Hoffmann's disease
    • 5.7Used methods of treatment
  • 6Spinal muscular atrophy
    • 6.1Causes
    • 6.2Clinical picture
    • 6.3Type 1 (Verdnig-Hoffman's disease)
    • 6.4Type 2 (infant form)
    • 6.5Type 3 (juvenile form, Kulenberg-Welander disease)
    • 6.6Type 4 (adult form)
    • 6.7Diagnosis and treatment tactics

Werdnig-Hoffman's disease

Genetic diseases affecting the nervous system lead to damage to organs and parts of the body, disrupt their normal functioning. One of them is the disease of Verdnig-Hoffman. It is rare enough - one case for 7-10 thousand people.

Etiology of the disease Verdnig-Hoffmann

Werdnig-Hoffman's disease (spinal muscular amyotrophy) is characterized by the pathology of nerve cells in the spinal cord, which results in the drying of muscle fibers intertwining with healthy ones. This process is due to the insufficient amount of protein responsible for the survival of motor neutrons. There are forms of the disease not associated with this pathology, caused by other modifying factors.

Violation of the work of nerve cells leads to the proliferation of connective tissue, which replaces the muscle. The patient is disturbed by swallowing, musculoskeletal and respiratory functions. Mental development is not affected. The sensitivity of the affected parts of the body does not decrease.

Verdig-Hoffman's disease is hereditary, transmitted from two parents who are carriers of the pathological gene SMN, located in the 5th chromosome.

In this case, they have no symptoms of the disease. Such a pair can give birth to healthy children or also carriers of the gene, the probability of the appearance of a sick baby 25%.

Famous people who have this disease: English astrophysicist Steven Hawking and Russian IT specialist Valery Spiridonov from Vladimir.

Symptoms of the disease

Signs of the disease directly depend on its shape, the study reveals the following clinical indicators:

  • a violation of the supply of muscle cells leads to their death. First, the muscles of the trunk, first of all, the back, are affected, then the process passes into the zone of the shoulders, hips, extremities;
  • increasing painful sensations;
  • decreased muscle tone;
  • muscle twitching;
  • reduction in the diameter of long bones, detected by means of an X-ray;
  • curvature of the spine in one direction and back;
  • established limitation of muscle work (does not bend or relax).

Symptoms that indicate the presence of spinal muscular amyotrophy:

  • weakness of muscles, manifests itself in violation of motor processes;
  • due to the thinning of the bone, limbs decrease;
  • the paucity of mimic movements;
  • swallowing and sucking reflexes are reduced or absent;
  • when the intercostal muscles are affected, there is a violation of breathing, and as a consequence, inflammatory and stagnant processes in the bronchi and lungs;
  • deformation of the skeletal apparatus in the thorax and spine;
  • tremor of hands and feet;
  • inhibition of the processes of physical development.

Forms and stages of the disease

Spinal muscular amyotrophy in most cases manifests itself in the first year of a child's life. The earlier, the more severe its course. The mortality rate is high, mostly children die before 4 years, rarely - up to 20. It can also appear in adults. There are three main forms of the disease:

  1. Congenital disease of Verdnig-Hoffmann.The first symptoms appear immediately after birth or even during the intrauterine period. At the same time the movements of the fetus subsided. The newborn has a violation of the processes of breathing, sucking and swallowing. The child does not hold his head, does not turn over, weakly screams. The course of the disease is severe, acute, life expectancy is short, up to 2 years. However, in some cases, with the help of modern artificial ventilation devices and feeding not through the probe, but directly into the stomach, the patient's life can be prolonged. Mentally and emotionally the child develops without violations.
  2. The second form, early childhood.The child develops in accordance with the norms. He begins to keep the head in time, turn over. Up to six months, parents do not notice any symptoms. After the infection, the disease manifests itself in the form of peripheral paralysis at first the lower, then upper extremities, in the end - the entire body, the acquired skills are lost, muscle tone decreases. There is a tremor of fingers, involuntary muscular contractions of the tongue. At a later stage, the difficult work of the respiratory system is attached. The course of the disease is not rapid, as in congenital form, some children can live to adolescence. The prognosis of the disease depends on the degree of damage to the muscles responsible for the respiratory process.
  3. The third form is late.The first symptoms appear after 2 years. By this time the baby is already developed physically and psychologically according to age norms. Progression of the disease occurs slowly, gradually, characterized by lethargy and awkwardness of the child during walking and other motor processes. Develops a paresis of extremities, the extinction of the swallowing and tendon reflex, signs of bulbar paralysis, as well as deformation of bone tissue. The third form is milder than the first two, patients can live up to 30 years.

Isolate forms of spinal muscular amyotrophy, manifested at a later age.

  • Culdberg-Welander diseaseis considered the easiest form of atrophy of childhood. In most cases, the onset of the illness comes during the adolescent period, but there are also earlier manifestations.

There are cases when patients do not lose the ability to walk and serve themselves independently, living a long life.

  • Kennedy's diseaseassociated with the mutation of the gene in the X chromosome, is transmitted to the girls from two parents, the boys from the mother. Appears in adulthood.

Malignant course of the congenital form of Verdnig-Hoffman, gives little chance for planning the future of such children, but at 2 and 3 forms it is possible to prolong the life of the child, it is important in time to react to infectious diseases, which sharply worsen the patient's condition and lead to the appearance of new symptoms, the worst of which is violation of respiratory function.

External manifestations of Verdnig-Hoffman's disease

What is the danger of the disease?

Due to the fact that the disease of Verdnig-Hoffmann is incurable, the most important danger is a fatal outcome. With congenital form, children live a fairly short period of time, the disease progresses rapidly and leaves no chance of survival.

With the help of modern research, it is possible during pregnancy to detect the presence of a disease in the fetus and prevent the birth of a seriously ill child.

In other forms, the disease exhibits the first signs after having an intestinal or respiratory infection, the management of the treating physicians limit the possibility of developing infection in the child, which will exacerbate its course and carry a deadly danger. However, bronchitis, pneumonia and other diseases of ENT organs are often found in patients with Verdnig-Hoffman disease.

Diagnosis and treatment of Verdnig-Hoffmann's disease

In the early stages of the disease, it is difficult to differentiate the disease, since the symptoms may be similar toother diseases:

  • Acute poliomyelitis is characterized by the absence of disease progression and asymmetric paralysis;
  • myopathy - also has a hereditary origin, has a progressive course, but the cause of muscle weakness is a violation in them of metabolic processes;
  • congenital myatonia is most similar to the disease of Verdig-Hoffman, it is possible to distinguish them with a biopsy of muscle tissue.

To diagnose the disease neurologist will need data on the first manifestation of symptoms, the nature of their development, the presence of concomitant diseases.

A number of studies are being conducted to diagnose:

  1. Electroneuromyography reveals abnormalities in the work of the neuromuscular system. There are changes in the muscular type, indicating a pathology of the motor neutron;
  2. Genetic analysis reveals the mutation of the SMN gene;
  3. Biochemistry of blood at the level of creatine kinase, indicators within the limits of the norm do not exclude the disease;
  4. A muscle biopsy for morphological examination that reveals the beam atrophy of muscle fibers alternating with healthy fibers, as well as the proliferation of connective tissue;
  5. MRI to exclude other diseases.

For the diagnosis of the fetus, the method of chorion biopsy, cordocentesis, amniocentesis is used in utero. The detection of the disease is an indication for the interruption of pregnancy.

Cure a patient with Verdnig-Hoffman's disease is impossible. To prolong life and improve its quality, symptomatic treatment is used.

The development of the disease and the worsening of symptoms are restrained by ensuring the work of metabolic processes in the muscle tissue.

With the help of physiotherapy exercises and massage, blood circulation improves, the risk of stagnation is reduced, muscle performance is maintained, the joints are immobile and lose their elasticity. Loads should be short and cautious.

Physiotherapy helps maintain motor skills at the existing level, and strengthen them. Special devices will help you to move around yourself, use a computer and even write.

Portable ventilators allow patients to stay outside the hospital and live a more productive life.

Prognosis of the disease Verdnig-Hoffmann

The prognosis for this disease is quite unfavorable. There are no chances for recovery.

The only way to prolong life is timely treatment, healthy diet and reasonable physical activity.

Children with a congenital form of Verdnig-Hoffman die within 6 months - 2 years. A later manifestation of the disease gives more time for life.

A source: http://doctor-hill.net/bolezni/bolezn-werdniga-hoffmana.html

Amyotrophy of Werdnig-Hoffmann

Amyotrophy of Werdnig-Hoffmann- the most malignant spinal muscular atrophy, developing from birth or in the first 1 years of life of the child.

Characterized by increasing diffuse muscular atrophy, accompanied by flaccid paresis, progressing to complete plethysy.

As a rule, Verdig Hoffmann's amyotrophy is combined with bone deformities and congenital developmental anomalies.

Diagnostic basis is the history, neurological examination, electrophysiological and tomographic studies, DNA analysis and the study of the morphological structure of muscle tissue. The treatment is poorly effective, aimed at optimizing the trophism of the nervous and muscle tissues.

Amyotrophy of Werdnig-Hoffmann is the most severe variant of all spinal muscular atrophies (SMA). Its prevalence is at the level of 1 case per 6-10 thousand. newborns.

The bearer of the altered gene that causes the onset of the disease is every 50th person.

But thanks to the autosomal recessive type of inheritance, the pathology of the child manifests itself only when the corresponding genetic aberration is present in both the mother and the father. The probability of a child with a pathology in this situation is 25%.

Amyotrophy of Werdnig-Hoffmann has several forms: congenital, intermediate (early childhood) and late. A number of specialists distinguish the latter form as an independent nosology - amyotrophy of Kugelberg-Welander.

Absence of etiotropic and pathogenetic treatment, early lethal outcome is the curation of patients with Verdnig-Hoffmann's disease in a number of the most complex tasks facing modern neurology and pediatrics.

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The causes of amyotrophy of Werdnig-Hoffmann

Werdnig-Goffman amyotrophy is a hereditary pathology encoded by a breakdown in the genetic apparatus at the locus level of 5q13 of the 5th chromosome.

The gene in which the mutations occur is called the survival motor neuron gene (SMN), the gene responsible for the survival of motoneurons. In 95% of patients with Verdnig-Hoffmann disease, a deletion of the telomeric copy of this gene is noted.

The severity of SMA directly correlates with the extent of the deletion site and the concomitant presence of changes (recombination) in the genes H4F5, NAIP, GTF2H2.

The result of the aberration of the SMN gene is the underdevelopment of spinal cord motoneurons localized in its anterior horns.

The consequence is an inadequate innervation of the muscles, leading to their pronounced atrophy with loss of muscle strength and a progressive fading of the ability to perform active motor acts.

The main danger is the weakness of the muscles of the chest, without the participation of which movements that ensure respiratory function are impossible. In this case, the sensory sphere remains intact throughout the course of the disease.

The congenital form(AGR I) clinically manifests up to 6 months of age. In utero may manifest as a faint fetal movement. Often, muscle hypotension is noted from the first days of life and is accompanied by the extinction of deep reflexes.

Children cry weakly, do not suck well, can not hold their heads. In some cases (with a later debut of symptoms) the child learns to hold his head and even sit, but against the background of the development of the disease, these skills quickly disappear.

Characterized by early bulbar disorders, a decrease in the pharyngeal reflex, fascicular twitching of the tongue.

This amyotrophy of Verdnig-Hoffmann is combined with oligophrenia and disorders of the formation of the osteoarticular apparatus: deformations of the chest (funnel-shaped and keeled thorax), curvature of the spine (scoliosis), contractures of joints. Many patients have other congenital anomalies: hemangiomas, hydrocephalus, clubfoot, hip dysplasia, cryptorchidism, etc.

The course of SMA I is the most malignant with rapidly increasing immobility and paresis of the respiratory musculature.

The latter causes the development and progression of respiratory failure, which is the main cause of death.

In connection with the violation of swallowing, it is possible to throw food into the respiratory tract with the development of aspiration pneumonia, which can be a deadly complication of spinal amyotrophy.

Early childhood form(CMA II) will debut after 6 months of age.

By this period, children have a satisfactory physical and neuro-psychological development, in accordance with the age norms acquire the skills to keep the head, turn over, sit down, stand.

But in the vast majority of clinical cases, children do not have time to learn how to walk. Usually, this amyotrophy of Werdnig-Hoffman manifests after a child's foodborne toxicinfection or other acute infectious disease.

In the initial period, peripheral paresis occurs in the lower limbs. Then they quickly spread to the upper limbs and musculature of the trunk. Diffuse muscular hypotension develops, deep reflexes die out.

There are contractures of tendons, tremor of fingers, involuntary muscular contractions (fasciculations) of the tongue. In the later stages, bulbar symptoms, progressive respiratory failure, are added. The course is slower than in the congenital form of Verdnig-Hoffman disease.

Patients can survive to 15 years of age.

Kugelberg-Welander amyotrophy(SMA III) is the most benign spinal amyotrophy of childhood. Manifests after 2 years, in some cases in the period from 15 to 30 years.

There is no delay in mental development, for a long time patients are able to move independently. Some of them live to a very old age, without losing their ability to self-service.

In the diagnostic plan, the age of the appearance of the first symptoms and the dynamics of their development, the neurological status (in the first place the presence of motor disorders of the peripheral type against a background of absolutely preserved sensitivity), the presence of concomitant congenital anomalies and bone deformities.

Congenital amyotrophy of Werdnig-Hoffmann can be diagnosed by a neonatologist. Differential diagnosis is performed with myopathies, progressive Duchenne muscular dystrophy, lateral amyotrophic sclerosis, syringomyelia, poliomyelitis, sluggish child syndrome, cerebral palsy, metabolic syndrome diseases.

For the purpose of confirming the diagnosis, electroneuromyography is performed - a study of the neuromuscular apparatus, thanks to which reveals characteristic changes that exclude primarily the muscular type of lesion and indicate a pathology motoneuron. Biochemical blood analysis does not reveal a significant increase in creatine phosphokinase, characteristic of progressive muscular dystrophy.

MRI or CT of the spine in rare cases visualize atrophic changes in the anterior horn of the dorsal brain, but allow to exclude another spinal pathology (hematomia, myelitis, cyst and swelling of the dorsal brain).

The final diagnosis of "Verdig Hoffmann's amyotrophy" is established after receiving the data of muscle biopsy and genetic studies.

Morphological examination of the muscle biopsy reveals pathognomonic beam atrophy of muscle fibers with alternation of atrophy zones myofibrils and unchanged muscle tissue, the presence of individual hypertrophied myofibrils, connective tissue sites proliferation.

The DNA analysis carried out by geneticists includes direct and indirect diagnosis.

Using a direct method, it is also possible to diagnose heterozygous carriage of gene aberration, which is important importance in the genetic counseling of siblings (brothers and sisters) of sick persons, couples planning pregnancy. In this case, a quantitative analysis of the number of genes of the locus of SMA plays an important role.

Prenatal DNA analysis can reduce the likelihood of a child with Verdnig-Hoffman's disease.

However, to obtain the DNA material of the fetus, it is necessary to use invasive methods of prenatal diagnosis: amniocentesis, chorion biopsy, cordocentesis.

Verdig Hoffmann's amyotrophy, diagnosed in utero, is an indication for the artificial termination of pregnancy.

Treatment and prognosis of amyotrophy of Werdnig-Hoffmann

Etiopathogenetic therapy is not developed. Currently, Verdig Hoffmann amyotrophy is treated by improving the metabolism of the peripheral nervous system and muscle tissue in order to slow the progression of the symptoms.

In therapy, combinations of drugs of various pharmacological groups are used: neurometabolites (preparations based on the hydrolyzate of the pig's brain, vitamins gr.

B, gamma-aminobutyric acid, pyracetam), facilitating neuromuscular transmission (galantamine, sanguinarine, neostigmine, ipidacrin), improving trophic myofibrils (glutamine co-ta, coenzyme Q10, L-carnitine, methionine), improving blood circulation (nicotinic acid, scopolamine). Recommended therapeutic exercise and soft massage.

Modern development of technology has made it possible to somewhat ease the lives of patients and their relatives, thanks to the use of automated wheelchairs and portable ventilators.

To improve the mobility of patients, various methods of orthopedic correction help.

However, the main prospects in the treatment of SMA are associated with the development of genetics and the search for opportunities to correct genetic aberrations by genetic engineering methods.

Congenital amyotrophy of Werdnig-Hoffmann has an extremely unfavorable prognosis. When she manifests in the first days of a child's life, his death usually occurs before the 6-month-old age.

At the beginning of the clinic after 3 months of life, the lethal outcome occurs on average to the age of 2 years, sometimes - to 7-8 years.

Early pediatric form is characterized by more delayed progression, children die at the age of 14-15 years.

A source: http://www.krasotaimedicina.ru/diseases/zabolevanija_neurology/Werdnig-Hoffmann

Spinal amyotrophy of Werdnig-Hoffmann - causes, symptoms, diagnosis, treatment

This is a group of hereditary diseases, the main feature of which is the defeat of the motoneurons of the anterior horns of the spinal cord, as well as the damage to the rootlets of IX, X, XII craniocerebral nerves.

Spinal amyotrophy is characterized by a violation of the innervation of the muscles of the lower extremities, neck, head, respiratory musculature.

Important criteria for establishing the correct diagnosis is the preservation of all types of sensitivity, normal development of the muscles of the upper limbs and the absence of mental disorders in the child.

The incidence of the disease is 7 people per 10, 00 newborns.

The causes of amyotrophy of Werdnig-Hoffmann

The gene for spinal amyotrophy of Verdnig-Hoffmann (SMN) is localized on the V chromosome, it is inherited by the autosomal recessive type. Parents whose chromosomes carry the SMN gene can produce a child with spinal amyotrophy with a probability of 25%.

Pathomorphological changes in amyotrophy of Verdnig-Hoffmann

The study shows a decrease in the spinal cord in the volume. Atrophy or completely disappear ganglion cells.

In the anterior roots, degeneration, demyelination, sclerotic changes in nerve fibers (peri-epi endoneural) are detected with fat deposition.

In the muscles of the skeleton, atrophied beams are detected, which are intertwined with intact fibers, hyalinosis, proliferation of connective tissue.

Classification of the disease of amyotrophy of Werdnig-Hoffmann

By the time of onset and the degree of dystrophic changes with spinal amyotrophy of Verdnig-Hoffmann:

  • Congenital (the onset of symptoms of the disease during the first 6 months of life);
  • Early childhood (from 6 months to 1.5 years);
  • Late children (over 1.5 years old);

Symptoms of amyotrophy of Werdnig-Hoffmann

The most severe is the congenital form of the spinal amyotrophy of Verdnig-Hoffmann. At children already at the first minutes of a life flaccid paresis are noted. Muscle weakness, decreased reflexes of the newborn period or their absence is revealed.

Newborns weakly suck their breasts, they have fascicular twitchings of the tongue, swallowing is difficult.

This form of the disease is accompanied by the formation of musculoskeletal deformities, in particular scoliotic ones; funnel-shaped or "chicken" breasts; contractures of joints. In very rare cases, the child has the ability to hold his head, sits down.

However, these abilities develop late, and then regress.

This disease is often accompanied by congenital anomalies, such as hydrocephalus, dysplasia t / b joints, planovalgus or planar deformities of the feet, undescended testicles in the scrotum, hemangiomas and and so forth. Children die up to 9 months (less than 2 years) from cardiovascular or respiratory failure, the cause of which is hypotension of the pectoral muscles and muscles of the diaphragm.

The early pediatric form of Verdig Hoffmann's spinal amyotrophy is characterized by manifestation in the second half of the year. A sick child begins to hold his head in time, he sits, sometimes he can even stand or walk. Further after the transferred alimentary enterocolitis the progression of the state occurs: flaccid paresis is manifested first on the legs, then it rises to the body and upper limbs.

Due to diffuse muscular atrophy, fascicular twitches of the tongue, contractures, small tremor of the hands are noted. Bulbar syndrome develops much later. The early pediatric form of Verdig Hoffmann's spinal amyotrophy is not as malignant as the first variant of the disease, however, the lethal outcome occurs by 12-15 years.

The late form of the disease manifests itself in the age of preschool children. Against the backdrop of imaginary well-being, when a child moves independently, jumps, runs, stiffness appears, movements become awkward (the gait of a "clockwork doll"), children often stumble.

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The atrophy of the muscles of the skeleton occurs gradually and slowly: at first, flaccid paresis is observed in the lower departments of the lower extremities, then the muscles of the lower parts of the upper limbs are involved in the process, torso. Muscular atrophy can remain invisible, because at this age is well developed subcutaneous fatty tissue.

Gradually there is a weakening of such reflexes as the pharyngeal and palatine, unconditioned reflexes decrease. The disease is accompanied by deformations of the support apparatus, most often this is the "chicken" breast. The prognosis with adequate and timely therapy is more favorable with respect 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 literature, sometimes you can find the fourth form of the disease - an adult, which manifests in the age of over 35 years.

This is an extremely rare and most favorable form of the disease, in which there is a violation of the innervation of only the muscular groups of the lower limbs.

Such patients lose the ability to move independently, but there are no violations of breathing, swallowing. The adult form of amyotrophy does not affect the life expectancy of patients.

Diagnosis of ADD Verdnig-Hoffmann

The diagnosis is confirmed on the basis of the clinical picture (early onset of atrophic changes, onset of degenerative changes in proximal muscle groups, muscle hypotension, muscle twitching language, absence of pseudohypertrophy), ENMG data (electroneuromyography), muscle fiber biopsy result, MRI, genealogical analysis (search for genetic mutations in parents and child).

The disease has a rapidly progressive course.

Differential diagnosis of Verdig-Hoffmann amyotrophy

1. With other diseases characterized by a "sluggish child syndrome 2. Genetic diseases of metabolism; 3.

Amyotrophy of Oppenheim (currently considered by some specialists as a variant of the spinal amyotrophy of Verdnig-Hoffmann); 4. Cerebral palsy; 5.

Progressive muscular dystrophies (Duchesne and Erba-Roth); 6. Amyotrophy of Kugelberg-Welander; 7. Lead intoxication;

Treatment of amyotrophy of Werdnig-Hoffmann

Verdnig-Hoffmann's spinal amyotrophy is currently an incurable, constantly progressive disease.

There is only symptomatic therapy: drugs that act on the metabolic processes of the nervous tissue (cerebrolysin, aminolone, encephabol); nootropics (lucetam, nootropil); vitamins of group B; massage and exercise therapy, special diet, etc.

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

Prevention of Verdig-Hoffmann amyotrophy

It is the timely diagnosis of genetic disorders in parents, prenatal DNA diagnosis. If a pathology in the fetus is detected, the issue of abortion is resolved.

A source: http://medlibera.ru/nervnye-bolezni/spinalnaya-amiotrofiya-verdniga-goffmana-prichiny-simptomy-diagnostika-lechenie

Spinal amyotrophy of Werdnig-Hoffmann

The disease was described by Werdnig in 1891. and Hoffmann in 1893. It is inherited by autosomal recessive type.

Frequency: 1 per 100 000 population, 7 per 100 000 newborns.


There are underdevelopment of the cells of the anterior horns of the spinal cord, demyelination of the anterior roots. Often there are similar changes in motor nuclei and rootlets of V, VI, VII, IX, X, XI and XII cranial nerves.

In skeletal muscles, neurogenic changes are characterized by "beam atrophy alternation of atrophied and preserved beams of muscle fibers, as well as disorders typical of primary myopathies (hyalinosis, hypertrophy of individual muscle fibers, connective hyperplasia tissue).

Clinical picture

There are three forms of the disease:

  • congenital,
  • early childhood and
  • late, characterized by the time of appearance of the first clinical symptoms and the rate of flow of the myodystrophic process.

Whencongenital formchildren are born with languid paresis. From the first days of life expressed generalized muscle hypotension and a decrease or lack of deep reflexes.

Early bulbar disorders, manifested sluggish sucking, a weak cry, fasciculations of the tongue, a decrease in the pharyngeal reflex. Paresis of the diaphragm is detected.

The disease is combined with osteoarticular deformities: scoliosis, funnel-shaped or "chicken" thorax, contractures of joints. The development of static and locomotor functions is dramatically slowed down.

Only a limited number of children with a large delay form the ability to hold the head and sit down on their own. However, the acquired motor skills quickly regress.

Many children with congenital disease have decreased intelligence. Often there are congenital malformations: hydrocephalus, cryptorchidism, hemangioma, hip dysplasia, clubfoot, etc.

Flowrapidly progressing, malignant. The lethal outcome occurs before the age of 9 years.

One of the main causes of death are severe somatic disorders (cardiovascular and respiratory insufficiency), due to the weakness of the musculature of the chest and a decrease in its involvement in physiology respiration.

Whenearly childhood formthe first signs of the disease occur, as a rule, in the second half of life. Motor development during the first months is satisfactory.

Children in a timely manner begin to hold their heads, sit, sometimes stand. The disease develops subacute, often after infection, food intoxication.

Flaccid paresis is initially localized in the legs, then quickly spread to the muscles of the trunk and hands. Diffuse muscular atrophies are combined with fasciculations of the tongue, small tremor of the fingers, tendon contractures.

Muscle tone, deep reflexes are reduced. In the late stages there is generalized muscle hypotension, the phenomenon of bulbar paralysis.

FlowMalignant, although milder than the congenital form. The lethal outcome comes to 14-15 years of life.

Whenlate formthe first signs of the disease occur in, years. By this age the children have completely completed the formation of static and locomotor functions. Most children walk and run on their own.

The disease begins invisibly. Movements become awkward, insecure. Children often stumble, fall. The gait changes - they walk, bending their legs in the lap (the gait of the "clockwork doll").

Sluggish paresis is initially localized in the proximal groups of the muscles of the lower extremities; proximal groups of muscles of the upper limbs, muscles of the trunk; Atrophy of muscles is usually unobtrusive due to a well developed subcutaneous fat layer. Typical fasciculations of the tongue, small tremor of fingers, bulbar symptoms - fasciculation and atrophy of the tongue, a decrease in pharyngeal and palatine reflexes. Deep reflexes are extinguished already in the early stages of the disease. Bony-articular deformations develop parallel to the underlying disease. The most pronounced deformity of the chest.

FlowMalignant, but softer than the first two forms. Violation of the ability of independent walking occurs at 10-12 years of age. Patients live up to 20-30 years.

Diagnosis and differential diagnosis

The diagnosis is based on genealogical analysis data (autosomal recessive inheritance type), clinical features (early onset, diffuse atrophy with predominant localization in proximal muscle groups, generalized muscle hypotension, fasciculation of the tongue, absence of pseudohypertrophies, progressive and, in most cases, malignant course, etc.), the results of electroneuromyography and skeletal muscle biopsy data revealing the denervation nature of change.

To differentiate the congenital and early forms follows first of all from the diseases included in the group of syndromes with congenital muscular hypotonia (syndrome "Flaccid child"): Opietheim amytonia, congenital benign form of muscular dystrophy, hereditary metabolic diseases, chromosomal syndromes and etc. The late form should be distinguished from the spinal amyotrophy of Kugelberg-Welander, the progressive muscular dystrophies of Duchenne, Erba-Roth, and others.


With spinal amyotrophy of Verdnig-Hoffmann prescribe LFK, massage, drugs that improve the trophism of nervous tissue: cerebrolysin, cortexin. aminalon, nootropil, lucetam.

A source: http://www.eurolab.ua/encyclopedia/Neurology.patient/7801/

Children's amyotrophy spinal Verdig-Hoffmann: symptoms of the syndrome of a flaccid child and treatment

General concept of pathology:amyotrophy spinal children Verdnig-Hoffmann refers to a group of diseases in which the motor nuclei located in the anterior horns of the spinal cord are affected.

This induces a process in which a gradual atrophy of muscle tissue occurs. The disease begins to manifest in early childhood (usually from the age of three months) and ends with the development of the syndrome of a sluggish child.

Within a few years, death occurs.

Frequency of occurrence:one hundred thousand newborns have only seven children who have the symptoms of this disease.


Most variants of spinal amyotrophy are caused by mutations that occur in the fifth chromosome and are inherited by the autosomal recessive type. Occasionally, autosomal dominant, X-linked recessive variants of inheritance can occur. Sometimes there are sporadic options.

In the anterior horns of the spinal cord, underdeveloped cells are found. The anterior roots are demyelinated.

Similar changes affect the nuclei and roots of the following cranial nerves: the trigeminal(V); abducent(VI); facial(VII); glossopharyngeal(IX); wandering(X); additional(XI); sublingual(XII). Changes in skeletal musculature are characterized by: beam atrophy, hyalinosis, connective tissue hyperplasia, hypertrophic processes in individual muscle fibers.

Clinical picture

There are three forms of amyotrophy of the spinal children's Verdnig-Hoffman, differing in time, when the first symptoms appear, and the dynamics of the development of the myodystrophic process: congenital; early childhood; Late.

Characteristics of the congenital form

Sluggish paresis occurs immediately after birth.

Muscular hypertension is especially frequent, characterized by generalization of the process, and the absence of reflexes from the tendons.

Rapidly appear bulbar disorders: sluggish sucking; fibrillation of the tongue; a weak cry; decreased pharyngeal reflex.

In parallel, this form of Verdnig-Hoffmann disease can be combined with various musculoskeletal deformities: scoliosis; contracture of joints; funnel-shaped chest.

Static and locomotor functions develop extremely slowly. Intellect in these children is usually reduced.

Often there can be congenital malformations: cryptorchidism; clubfoot; hemangioma; hydrocephalus; dysplasia of the hip joints.

The course of the congenital form:characterized by malignancy and rapid progression. The causes of death - cardiovascular and respiratory failure - are due to the weakness of the pectoral muscles.

Characteristics of the early childhood form

In the second half of the first year of life, the first signs of spinal amyotrophy manifest themselves. Motor development in the first three months of existence is satisfactory.

Children begin to hold their heads, sit, and occasionally walk. The current of this form is subacute: it arises, as a rule, after the transferred intestinal infection.

Initial localization of flaccid paresis - legs, then - arms and trunk.

Diffuse atrophy of muscle tissue in this case is combined: asciculation; tremor of fingers; language; tendon contractures. In the later stages, bulbar paralysis is observed, muscle hypotension.

Characteristics of the late form

Begins at the age of two. By this time, static and locomotor functions, as a rule, are developed. Children go, run.

The onset of the atrophy process is gradual, slow, almost imperceptible: there is awkwardness and uncertainty in the movements, the gait characteristic of the "clockwork doll" - the children go, while doing bending of the legs in the knees.

Signs of the late form of amyotrophy of the spinal children's Verdnig-Hoffmann include: bright paresis with localization of the process in the lower extremities (proximal groups muscles); low visibility of the atrophic process due to the good development of the subcutaneous layer of fatty tissue; decreased pharyngeal and palatine reflex; extinction tendon and periosteal reflexes; osteoarticular deformations of the chest as manifestations of a combined pathology; tremor of fingers (small), signs of bulbar paralysis;

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Diagnosis of Verdnig-Hoffmann's disease

The basis of the formulation are the following survey methods:

  • genealogical analysis;
  • laboratory diagnosis of genetic abnormalities; electromyography;
  • obtaining biopsies of muscle tissue with their subsequent pathomorphological examination;
  • determination of the activity of CK;

Particular attention is paid to the peculiarities of clinical symptoms:

  1. early onset of amyotrophy of the spinal children's Verdnig-Hoffmann;
  2. localization of diffuse atrophies in proximal muscle groups;
  3. generalized muscle hypotension;
  4. fasciculation and fibrillation of the tongue;
  5. absence of pseudohypertrophy; malignant course.

Differential diagnosis:when the diagnosis of amyotrophy by Werdnig-Hoffmann is to be excluded; Amyotonia of Oppenheim; muscular dystrophy of Duchesne and Erba - Rota; children's cerebral paralysis (atonic form); spinal amyotrophy of Kugelberg-Welander; hereditary metabolic diseases; spondylosis of the cervical spine; poisoning lead.

Used methods of treatment

There are no effective methods of treatment that can influence the cause of amyotrophy of the spinal children's Verdnig-Hoffmann.

Use drugs that improve the trophic processes of nervous tissue. These include: Cerebrolysin; aminolone; encephalus.

Such patients are prescribed massage and exercise therapy.

A source: http://pediatriya.info/?p=152

Spinal muscular atrophy

Spinal muscular atrophy (amyotrophy) is a group of genetic diseases in which progressive muscle atrophy develops as a result of damage to the neurons of the anterior horns of the spinal cord.

The disease often develops in the first years after birth and has an unfavorable outcome.

The emergence of the pathological process in adulthood is characterized by a slow increase in symptoms and a more favorable course. So far, no effective treatment for spinal muscle atrophy has been found.

However, scientists of many countries of the world are conducting medical development of a medicinal product that can become a breakthrough in the treatment of severe neurological disease.


Carrying the gene does not affect the state of health. Scientific studies have shown that every 40th person has a mutation of the muscle atrophy gene.

The SMN gene affects the production of a specific protein, which is necessary for the vital activity of motoneurons located in the anterior horns of the spinal cord.

As a result, nerve cells do not perform the basic functions - carrying out nerve impulses from the central parts to the periphery to the muscle fibers.

Change in innervation of muscles leads to a violation of blood flow, metabolic processes and contractility, which time causes them to weaken, decrease in volume, inability to maintain normal motor activity.

The death of motor neurons occurs in the anterior parts of the spinal cord, while it has a symmetrical localization. This characteristic feature is considered in favor of the diagnosis of spinal muscular atrophy.

In some cases it is not possible to confirm the hereditary nature of the disease.

Acquired forms of the disease can occur as a result of spinal cord injuries, infectious central nervous system damage to syphilis, endocrine disorders in diabetes mellitus, beriberi.

Clinical picture

Amyotrophy has several forms that differ in the age of the appearance of the first symptoms, the severity of the course of the pathological process and the life expectancy of patients.

The disease is characterized by the development of disability, which is accompanied by a violation of motor activity and inability to self-service in the home.

In severe clinical cases, patients require constant medical supervision and external help in everyday life.

Amiotrophy leads to disability from early childhood

Moving is possible with the help of wheelchairs, walkers, crutches, walking stick.

The lethal outcome is due to stagnant complications from the respiratory and cardiovascular system, which are manifested by severe pneumonia and heart failure.

The pathological process does not involve sensitive nerve fibers, so all kinds of sensitivity are retained. Intellect and mental functions do not suffer and are well developed in the teaching of the child.

Type 1 (Verdnig-Hoffman's disease)

The disease of Verdnig-Hoffmann was discovered in the late 18th century by well-known neuropathologists, in honor of which she was named.

They described the most severe type of disease with an unfavorable prognosis and significant impairments in the motor activity of the extremities.

At the time of the discovery of the disease and to this day, the prognosis for the life of patients remains disappointing, often patients die in early childhood.

The pathological process in the spinal cord can develop during the intrauterine period. In such cases, the fetus is weakly active and sparse in the second half of pregnancy.

After birth, the symptoms of the disease grow during the first 6 months of the child's life. Note the lethargic motor activity - the newborn usually lies in a flattened posture on the back ("frog" posture), does not turn over, rarely bends and unbends the legs.

A characteristic symptom of the disease is a chaotic twitching of the affected muscles, which is called fasciculation.

Embodied thoracic cage due to underdevelopment of intercostal muscles

As a result of damage to motoneurons and impairment of the intake of nerve impulses from the brain, muscles do not develop, decrease in volume. Atrophy of muscle fibers can hide under a well developed subcutaneous fat layer at the onset of the disease.

At examination do not determine the tendon reflexes of the lower, less often upper limbs. There are problems with breathing and swallowing due to violation of innervation of the pharynx, intercostal and abdominal muscles, diaphragm.

This causes the appearance of congestive and aspiration pneumonia, which, if untimely, leads to death.

Verdnig-Hoffmann's disease is characterized by deformation of the skeleton due to the inability of weakened muscles to keep the bones in an anatomically correct position.

At attempts of the child to sit the curvature of a backbone is formed, the scoliosis and pathological kyphosis develops. Atrophy of the intercostal muscles leads to flattening of the chest, which in turn aggravates the work of the heart and respiratory organs.

At the beginning of the disease, the musculature of the lower extremities is affected, as a result the child can not stand on his feet, is unable to walk, and is chained to a wheelchair throughout his life.

Atrophy of the muscles of the head and neck makes it difficult for the head to move, and a decrease in the strength of the upper limbs prevents the development of self-service skills in everyday life.

Type 2 (infant form)

Infant form or type 2 spinal muscular atrophy is formed in children aged 7-18 months and is diagnosed when the child attempts to crawl, sit, walk alone.

Since birth, they have noted the sluggish motor activity of newborns, a delay in physical development, a decrease in tendon reflexes.

Infant form is lighter than 1 type of disease, characterized by a slow progression of muscle atrophy, life expectancy of patients usually reaches 16-18 years.

Type of lower limbs with type 1 and type 2 amyotrophy

Children are able to sit on their own, crawl, get up on their feet, but can not walk without help. Self-service skills are preserved in the home, which also gives an opportunity to involve children in independent learning.

Respiratory activity is not complicated, swallowing reflexes are preserved.

However, due to low motor activity, patients are vulnerable to respiratory diseases and pneumonia, which significantly worsens health and can lead to serious complications.

Type 3 (juvenile form, Kulenberg-Welander disease)

Kulenberg-Welander disease or juvenile form occurs after reaching the age of two, often develops during puberty.

Characterized by a slow progressive course.

Such patients in the early development of pathology are able to walk independently, climb the stairs, sit on a chair or bed and get up.

Respiratory disorders with spinal atrophy can lead to death

However, in time it becomes more difficult to move, and in order to carry out elementary movements one has to resort to considerable efforts. As a result, the muscles of the thigh and buttocks are hypertrophied (thickened).

In the first place, the muscles of the legs suffer, then the muscular groups of the back, neck, upper limbs are involved in the pathological process.

Ability to move and self-service persists for quite a long time, but the inevitable outcome of the disease is disability - patients are forced to use a wheelchair.

Type 4 (adult form)

The adult form of the disease is much less common than the above types of the disease and develops at the age of over 30-40 years. It is characterized by a slow progression and a favorable outcome.

The pathological process involves mainly the muscles of the head and neck, which does not affect the loss of ability to work and does not lead to impairment of motor activity. A characteristic clinical sign is jerking of the tongue, weak facial expressions and limitation of mobility of the head.

The later the first symptoms of amyotrophy appear, the more favorable is the prognosis for life.

Diagnosis and treatment tactics

Diagnosis of the disease is established by the characteristic clinical signs and results of the neurological examination. Confirm amyotrophy by biopsy of the affected muscles, where pathological changes are detected.

Conduct computer and magnetic resonance imaging (CT, MRI) to detect abnormalities in the anterior region of the spinal cord.

Assign a neuromyography to identify the slowing or absence of the processes of transmission of nerve impulses.

Microscopy of affected muscle fibers with amyotrophy

It should be understood that modern medicine can not cure the disease. Therapy is aimed at maintaining the vital functions of the patient and preventing complications. Conservative treatment includes:

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  • medicines to improve the conduct of nerve impulses from the central parts of the nervous system to the periphery - nivalin, proserin;
  • preparations for normalization of metabolic processes and improvement of microcirculation of nervous and muscular tissues - potassium orotate, actovegin, lidase, nicotinic acid;
  • complexes of B vitamins to improve muscle innervation - milgamma, neuromultivitis;
  • nootropic drugs for improving blood flow in the nervous tissue and activating the metabolism - nootropil, piracetam;
  • physiotherapy procedures for fixing the positive effect of drugs - paraffin, magnetotreapia, UHF;
  • massage to normalize muscle tone, restore blood flow, prevent contractures (immobility) of joints;
  • therapeutic gymnastics for training muscles, strengthening ligaments, normalizing the work of the heart and respiratory organs;
  • Orthopedic devices for maintaining normal functioning of the chest, upper and lower extremities.

In the terminal stages of the development of the disease, resuscitation and artificial ventilation due to irreversible changes in the muscles involved in the process respiration.

Spinal muscular atrophy refers to a severe neurological disease associated with the defeat of the motor pathways of the anterior horns of the spinal cord. The development of an innovative drug that can fill the missing neuronal protein, gives hope to the patients for recovery.

A source: http://MoyaSpina.ru/bolezni/spinalnaya-myshechnaya-atrofiya