Erb-Roth muscular dystrophy – treatment by Dr. Nikonov

Causes of Erb-Roth muscular dystrophy

The cause of the development of this pathology is a genetic defect in the gene 13q12, 17q12-q21.33, 4q12 and 5q33. This means that an insufficient amount of enzymes is formed in the muscle cell. These are exactly what cells need for subsequent protein construction. It turns out that due to protein deficiency, the permeability of cell membranes increases. That is, the synthesis of sarcoglycans is impaired, and therefore the dystrophin-glycoprotein protein complex is impaired.

The dystrophin-glycoprotein protein complex ensures the connection of the cellular skeleton of the contractile elements of muscle fibers of myofibrils with extracellular tissue structures. As a result of sarcoglycan deficiency, the balance of amino acids and enzymes in muscle fibers is disrupted. The muscle cell framework creates the protein dystrophin. The framework of a muscle cell is similar to a chain-link mesh. Even more precisely, on honeycombs with honey. If there is no honey in one comb, then the neighboring combs increase in size and move slightly with one wall in place of the empty comb. Honey begins to flow out of the enlarged honeycombs.

Rice. 1. Genetic defect in Erb-Roth dystrophy

In the same way, the enzyme creatine phosphokinase begins to leak out of their muscle cells. It flows out of the cell and enters first the lymph, then from the lymph into the blood. The presence of increased levels of creatine phosphokinase in the blood indicates that the muscle cell is in trouble, that is, its biochemical reactions are disturbed.

Why is creatine phosphokinase needed in muscle cells in sufficient quantities? Creatine phosphokinase is needed by the muscle cell so that the mitochondria can create energy. Energy in a muscle cell is created by mitochondria.

Muscle weakness in Erb-Roth muscular dystrophy creates insufficient amounts of creatine phosphokinase within the muscle cell.

Pathogenesis of the disease

What is muscular dystrophy? It is advisable to consider the causes and effective methods of treatment after studying the pathogenesis of the disease. It begins its development with pathological changes in muscle tissue, which are metabolic and structural in nature. This is myopathy. They arise against the background of mutations in genes. As a result, there is a deficiency or complete cessation of the synthesis of proteins, which are a necessary structural component of myocytes.

The disease may be descending in nature, with weakness observed in the proximal parts of the arms. However, most often it has an ascending type of distribution of muscle changes. As the disease progresses, the volume of muscle fibers decreases. They gradually cease to function fully and are destroyed. In their place, a fat layer is formed. Over time, muscle tissue is completely replaced by fat. The result is immobilization, followed by disability.

What does a muscle cell do to stop the release of creatine phosphokinase?

To preserve the necessary substances, the cell is forced to close these holes. And they can only be closed with substances that are larger than these holes. The muscle cell begins to retain fat components inside itself that are larger than these holes.

To keep the fatty components near these holes, you need to apply force. To exert force requires energy. Energy is created by mitochondria. Therefore, to save the life of the cell and their lives, mitochondria move from the motor proteins actin and myosin to the walls, floor and ceiling of the cell. Actin and myosin are left without some of the energy. The cell, frightened that other holes may form in the frame, is concerned about creating additional fatty inclusions inside itself (just in case). There are so many of these inclusions that the fat begins to squeeze the motor proteins of the cell until they are completely immobilized.

Rice. 2. State of the muscle cell in Erb-Roth muscular dystrophy

Explanation for the photo:

A - change in the size of muscle fibers and necrotic myofibrils (arrows).

B — cluster of basophilic regenerating myofibrils (arrows).

C , Immunohistochemical staining for dystrophin demonstrates marked loss of normal plasma membrane staining.

Diet

With Erb-Roth muscular dystrophy, it is important to adhere to a special diet. A properly selected diet allows you to stop inflammatory processes in the body, remove toxins and provide tissues with the necessary nutrients. It implies adherence to the following principles:

complete rejection of fatty, fried, salted and smoked foods;
use of fresh vegetables and fruits, lean varieties of fish in the diet;
absence of foods high in gluten and sugar;
Only goat's milk is allowed to be consumed;
carbonated drinks and alcohol are prohibited.

In general, such a diet contains the principles of proper nutrition. Therefore, you can stick to it throughout your life without fear of causing significant harm to your health.

How does my method work to restore normal muscle movement?

Using my method, Nikolay Nikonov, for Erb-Roth dystrophy: stretching the muscle, fixing it in a certain position and pressing on it with a certain technical technique, the motor proteins are released from the pressure of fatty inclusions.

Using an electron microscope, I see an increase in the presence of fat cells and a concentration of mitochondria near the cell walls, which confirms my logical reasoning.

Rice. 3. Muscle biopsy for the diagnosis of Erb-Roth muscular dystrophy

Muscle biopsy shows severe fibrosis of the endomysial fibis ( A ) and lymphocyte infiltration ( B ). ( C ) Basophilic regenerating fibers are shown. ( D ) Necrotic myofib infiltrated with marked lymphocytes and histiocytes

Until the fatty inclusions, with their heaviness, stop the work of motor proteins, there is muscle movement. They may be weak, they may tire quickly, but there are muscle movements.

As soon as fatty inclusions clamp motor proteins, immobilization occurs. If immobilization occurs in the diaphragm, breathing stops. If immobilization occurs in the heart, then the heart stops.

I cannot restore the functioning of the gene, but... by influencing the muscles with my method, it was possible to reduce the amount of fatty components inside the muscle cell in a girl with progressive Erb-Roth muscular dystrophy and some of the mitochondria returned to their places.

The muscles began to contract and made it possible for Nastya to begin to move.

Now Nastya is at home, her condition has not worsened. There is even some improvement - Nastya started swimming in the pool.

Doctor Nikonov

The disadvantage of restoring Erb-Roth muscular dystrophy is that you need to constantly periodically influence the muscles with my method so that there are no excessively large fat deposits in the muscle cells.

With diabetes, people experience inconvenience all their lives when taking insulin, but despite this they live a full life (have a family and children).

I am proud of my knowledge, experience and skills!

The result of my knowledge on restoring normal muscle function in Duchenne muscular dystrophy:

Emine, Sergei, and Jacob gained muscle strength. They and my other patients walk like ordinary healthy people!

Prognosis and complications

There is no precisely established course of muscular dystrophy. In some, myopathy quickly progresses and causes rapid disability. Others with Erb-Roth disease live for several decades and can care for themselves, but have physical limitations.

The severe course and rapid progression of the disease significantly reduces the life expectancy of patients. Death is more often recorded due to complications of myopathy. With Erb-Roth disease, myocardial failure or dystrophy, impaired gas exchange in the lungs, arrhythmia, congestive pneumonia, and other cardiac or respiratory disorders are possible.

Involvement of smooth muscles below the diaphragm impairs gastric motility, intestinal motility, bladder function, and uterine tone. Diseases of the genitourinary system develop, urinary incontinence, chronic constipation, and other disorders of the digestive and pelvic organs appear.

Symptoms of Erb-Roth dystrophy

Here are the key symptoms for this diagnosis, which begins to develop in children and adolescents:

There is a delay in the child starting to walk independently.
An uncomfortable gait for the patient, which looks like hobbling from foot to foot. This is also called the “duck” type of walking. This occurs due to a symmetrical weakening of the muscles in the area of pain.
The child often stumbles when moving and falls when running, in other words – imbalance and instability.
Difficulties that arise when trying to get out of bed or chair. Difficulties also occur when walking on slopes, climbing, and even going down stairs.
There is a convexity of the scapular bones. This occurs due to weakening of the patient’s serratus anterior muscles and the rhomboid muscles of the back.
Waist circumference decreases. This is due to the fact that with Erb-Roth muscular dystrophy, there is a decrease in the tone of the transverse muscles of the chest, abdomen and ileal rib.
Pathological fatigue in a child.

As the disease progresses, there is constant general weakness and weakening of the muscular corset of the back and shoulder girdle muscles. These processes lead to such postural defects as hyperlordosis. For patients with dystrophy, it becomes more and more difficult each time, as well as holding objects in their hands and raising their hands to the top. As for the facial muscles, they also lose their mobility. This results in incomplete closure of the eyelids and protrusion of the lips.

The process of gradual decrease in muscle tone leads to inevitable thinning and flabbiness of the patient’s muscle tissue with progressive Erb-Roth dystrophy, replacing it with adipose and fibrous tissue, i.e. myodystrophy.

Symptoms of the disease in later stages

Severe loss of muscle mass, flexion contour, contraction of the patient's tendons and almost complete loss of deep tendon reflexes in the child's lower extremities (knee and sole).

Nutrition for muscle atrophy

Myopathy and amyotrophy lead to loss of muscle tissue. The task of the patient and the doctor is to manage to restore this loss. It is known that protein is required for muscle growth, but not everyone knows what kind, in what quantity and mode. We recommend taking nutritional mixtures in the form of amino acids, with the addition of vitamins and L-carnitine. Doses are calculated taking into account the patient’s weight, age and state of the gastrointestinal tract.

Often, for some reason, proteins are not absorbed from the gastrointestinal tract and taking protein foods does not lead to anything other than digestive problems. Information about the quality of protein absorption can be obtained from a scatological examination of stool. Since nutrition is an important component of the treatment of myopathy, in these cases we necessarily treat the cause of impaired protein absorption (decreased excretory function of the pancreas, inflammation of the intestinal mucosa, etc.).

Diagnosis of Erb-Roth muscular dystrophy

The diagnosis of the disease in question is based on a physical examination of patients, a study of the patient’s family history and subsequent analysis of the collected data.
Genetic testing is carried out. Necessary for subsequent accurate determination of muscular dystrophy.
Electroneuromyography.
A biopsy of muscle tissue is performed with biochemical testing.
A general blood test is given.
A blood test for creatine phosphokinase is taken.
Analysis of the patient's urine.

As for electromyography, it makes it possible to study not only the degree of neuromuscular transmission, but also to determine the level of direct muscle excitability, which is extremely important for the differential diagnosis of the disease with pathologies of neuropathic muscles.

Prevention methods

There is no specific prevention for this disease, since in most cases it is hereditary. However, doctors offer several methods to minimize the risk of its occurrence.

First of all, even at the planning stage, both future parents must undergo a comprehensive examination of the body. As a rule, it also involves genetic testing to identify pathological genes. If necessary, consultation with specialized specialists may be required.

If a pathology is suspected, a study of cellular elements and blood in the fetus is prescribed to identify gene mutations. The procedure is performed early. Based on its results, the doctor offers parents several options for solving the problem.

If the disease manifests itself already at a conscious age, it is necessary to take measures to alleviate the patient’s condition and to prevent the development of possible complications. In this matter, each case is individual. Therefore, there are no universal recommendations.

Treatment of Erb-Roth dystrophy

It should be noted right away that I cannot restore the damaged gene, but...

Doctor Nikonov

The impact of my method is aimed at reducing the intensity of symptoms, slowing down the progression of the disease, increasing muscle strength, and restoring proper movement in all muscle groups.

I do not treat Erb-Roth muscular dystrophy. I am working on restoring normal muscle function . Therefore, I will not describe the treatment procedures used in hospitals and other rehabilitation centers in my article. Chances are you've tried them.

My article is for informational purposes only. I took the information from my observations and ten years of research and discoveries of scientists from all over the world.

Prognosis for recovery

In clinical medicine, this pathology does not belong to the group of deadly ones. However, the prognosis in most cases is unfavorable. The disease progresses quite quickly. After about 20-25 years from the onset of initial symptoms, it leads to complete loss of mobility and a wheelchair.

Muscle atrophy eventually spreads to the cardiac and respiratory systems. This leads to secondary disorders, such as heart failure, pulmonary infections. It is these pathologies that lead to death. Mild forms of muscular dystrophy do not affect the life expectancy of patients.

In the United States today, the causes and treatment of Erb-Roth dystrophy are being actively studied. Dystrophy, according to local scientists, can soon be cured. Positive results from a gene therapy study were recently published. It involves the introduction of a modification of the adeno-associated virus AAV1 of the Parvoviridae family into the affected cellular elements of muscle tissue. This virus provokes an immune response, as a result of which the process of alpha-sarcoglycan synthesis is normalized.

What do you need to remember?

Myopathy refers to primary muscle diseases.
The cause is a gene mutation.
The symptoms are varied, but Erb-Roth myodystrophy always affects the muscles of the limbs, shoulders, and lower back.
During the examination, the functions and structure of muscle tissue are studied.
They are treated with symptomatic therapy and non-drug methods.
The prognosis for quality of life is unfavorable, death occurs due to complications.
Specific prevention of Erb-Roth muscular dystrophy has not been developed.

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