Verdniga-Hoffman spinal amyotrophy: symptoms, types, diagnosis and prognosis of survival

It is terrible to know that the baby will never sit, stand, run. It is even more frightening to see how a normally growing and developing child suddenly begins to fade away, to constantly fall, after a few months he cannot climb the stairs, and once he loses the ability to just stand up.

Spinal muscular atrophy

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

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

Verdniga-Hoffman spinal amyotrophy: symptoms, types, diagnosis and prognosis of survival

Spinal muscular atrophy is found mainly in children at an early age. However, some forms of the disease begin to occur only in adolescents or already adults. The treachery of pathology lies in the fact that it gradually, day after day, takes away from patients what they have managed to achieve.

For the first time pathology was described by G. Verdnig. He drew attention to equilateral atrophy of the spinal cord, its front horns, and the roots of peripheral nerves in 1891. As early as next year, J. Hoffman was able to prove that this was an independent disease. In the middle of the XX century. Researchers E. Kugelberg and L. Velander described a pathology that occurs at a later age and has a more favorable prognosis.

Symptoms

Each type of SMA has its own special features, but there are some symptoms that allow you to combine heterogeneous diseases into one group. It:

  1. Increasing muscle weakness and atrophy.
  2. When the disease manifests itself after 1-2 years, there is a noticeable degradation of the already achieved abilities, for example, running, walking.
  3. Tremor of fingers Shivering is observed in the language.
  4. Skeleton deformation.
  5. The preservation of intellectual and mental health in most patients.

Types of AGR

The age, the time of symptoms, the features of the pathology, the prognosis allow to distinguish several types of diseases.

CMA 0

This form of pathology is rarely described, often it is combined with the first type of SMA. The disease is congenital. It is characterized by a complete lack of movement, tendon reflexes, muscle weakness, limited movement of the joints of the knees. Since birth, there are respiratory disorders.

Often, the diagnosis is confused with perinatal encephalopathy or birth trauma. However, in the last two cases, children quickly adapt, their condition becomes better. In children with SMA, there is no improvement, in most cases they die before they are a month from complications.

SMA-1

Pathology of the first type has a very severe course. It is also called Verdnig-Hoffman’s disease. Diagnosed this type can be from birth to 6 months. There is weakness of the muscles, their periodic twitching – the latter is rather difficult to see due to a sufficiently large layer of the fat layer. A shiver may periodically run over the baby’s tongue.

There is a deterioration of the vomiting, sucking, swallowing reflex, impaired salivation. The baby can not cough, scream loudly. Often accompanied by severe respiratory disorders, pneumonia.

The chest in these children has a flatter shape due to poorly developed chest muscles.

Verdnig-Hoffman spinal amyotrophy babies are easily recognized by the frog pose. The hips and shoulders are extended, the elbows and knees are bent.

By 6 months, the child can learn to hold the head, but almost never will be able to sit, stand, walk on their own. Problems with swallowing cause feeding difficulties.

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

Late infant

Pathology of the second type is found in children aged from six months to a half to two years. Dubovits disease is characterized by weakness and tremor in the deep parts of the muscles, trembling fingers, tongue, limiting the amount of movement of the limbs. Children are distinguished by their low weight, developmental delay. They sit, they eat, but they can’t get up and walk.

The disease is progressive. Over time, the muscles of the chest and neck weaken, tendon reflexes disappear, and there is a violation of swallowing, a weak voice. The patient can be recognized by the hanging head.

Juvenile

The pathology of Kugelberg-Welander is often diagnosed after 2 years. It is considered a relatively mild form of SMA, many patients live to 30-40 years. The man is standing, but it is given to him with difficulty due to very weak muscles. There is a gradual atrophy of the muscles.

A child up to 10-12 years old develops normally, then begins to stumble, falls, loses the ability to play sports, run, leave the house, just move without a wheelchair. The patient is tormented by periodic spasms of the limbs. A strong scoliosis develops, the shape of the chest changes.

Often in these patients fractures occur, there is a limited amount of movement of the joints.

Late pathology

The fourth type includes the Kennedy bulbosphere amyotrophy, the Duchenne-Aran distal amyotrophy, and the peripeal amyotrophy of Vulpian. Diseases are usually diagnosed at the age of 35-40 years, sometimes the age range extends from 16 to 60 years. The patient notes a gradual loss of muscle strength, extinction of tendon reflexes, visible muscle contractions.

When atrophy Duchenne-Arana primarily affects the hands. The amyotrophy of Vulpian can be recognized by the formation of the pterygoid blades.

Causes and mechanism of the disease

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

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

It is believed that the first deep-seated muscular tissue loses its working capacity.

Diagnostics

DNA analysis is the most accurate method for determining spinal muscular atrophy in children. It is carried out both at the born baby, and during pre-natal development. Additionally, the following studies are conducted:

  1. Analysis of biochemistry. The goal is to determine the level of enzymes: ananin aminotransferase, lactate dehydrogenase, creatine kinase. Their normal content eliminates suspicions of progressive muscle dystrophy.
  2. Electrophysiological study. The method is aimed at recording bioelectric activity. Pathology is characterized by the rhythm of the palisade.
  3. MRI Assigned to detect signs of muscle atrophy.
  4. Spinal cord microscopy. There are signs of degenerative processes in the cells of the nerve processes. They shrink, swell, while glial fibers have a dense structure.
  5. Tandem mass spectrometry. The study helps to clarify the level of amino acids and protein SMN.
  6. Histological examination of striated muscles. The results will be visible groups of small fibers.

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

Treatment

The main objective of studies aimed at the treatment of spinal muscular amyotrophy is associated with an increase in the SMN protein level. Currently, drugs are being tested, and official Russian medicine does not use them.

Treatment today includes medications that improve the passage of impulses. This is Prozerin, Galantamine. Nootropic drugs are prescribed (Nootropil), the main task of which is to improve the performance of the brain. Drugs are used to normalize the metabolism, for example, Actovegin. Assigned dietary supplements that help improve metabolism. Vitamin therapy is shown, in particular, vitamin B intake, C, E. Anabolic steroids accelerate protein synthesis.

In case of scoliosis and other pathologies of the spine, developing in the disease Dubovits and K├╝gelberg-Velander, an orthopedic correction is shown.

Important methods of treatment are massage, physiotherapy, neuromuscular stimulation. Assigned to exercise therapy. Exercise helps to maintain strength, on the other hand, performing them in society, going to the pool helps to socialize, to communicate with other people.

SMA patients were recommended to follow a . Food – a source of substances needed by the muscles. Thus, the necessary amino acids are contained in cereals, meat, fish, mushrooms, nuts, dairy products. Recommended dishes of oats and wheat, brown rice.

Natural support and muscle growth will help spinach, broccoli, herring, onions, grapefruit, watermelon. To increase testosterone, men are recommended to take dill, parsnip, ginseng, parsley.

Forecast

How the disease will develop, how many years the child will live, depends on its type.

With atrophy of type one, the prognosis is extremely unfavorable. About 50% of babies do not live to two years. No more than 10% of children with Verdniga-Hoffman’s disease can live to five years. The cause of death is most often pneumonia, respiratory arrest, and heart failure.

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

In SMA type III, infant mortality is less common. In many patients, symptoms appear during pre-adolescence. After a few years, they stop walking. Further, increasing, there is atrophy of the muscles of internal organs, including respiratory.

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 who is expecting a child may suspect a problem by drawing attention to the weakness of the fetal movement. Conducted DNA analysis can confirm or dispel suspicions. If necessary, a medical commission is held, which may recommend abortion. The doctor necessarily talks about the disease, its course and consequences.

After the diagnosis of the disease in an already born child, he is surrounded by care and attention. Using a system of artificial ventilation of the lungs, phlegm suckers, special devices for the movement of a baby that can move, help to improve the quality of life and help the child live. It is recommended to do massage regularly, physiotherapy. Children even with limited movements carry in the pool.

Spinal amyotrophy is a dangerous pathology that is not yet curable. It is characterized by muscle atrophy. It occurs 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 atrophies: concept, differential diagnosis, treatment prospects // Journal Nervous Diseases – 2015

Lepesova M.M., Ushakova T.S., Myrzaliyeva B.D. Differential diagnosis of spinal muscular amyotrophy of the first type // Herald of the Almaty State Institute of Advanced Medical Training – 2016

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