Diagnosis of Erb-Roth myopathy? There's no such thing. But there is Pompe disease with enzyme replacement therapy

Insist on an accurate diagnosis, study the information, and Claudia's article will help you with this.

My diagnosis is Erb-Roth myopathy! Is it right?

Why do I need an accurate diagnosis? It's still incurable...

Why do I need additional diagnostics? My diagnosis is Erb-Roth myopathy!

I already had a bunch of tests, and everything was negative there ...

Are you familiar with such thoughts?

As we have written more than once, Erb-Roth myopathy (or LMMD) is a descriptive diagnosis. Dozens of diseases are hidden under this name. different features, prognosis and treatment potential.

And among them there is one diagnosis that needs special attention. This is so far the only limb-girdle muscular dystrophy for which there is a cure. This LGMD is a late-onset Pompe disease.

It is pointless to indulge in a description of the typical manifestations of Pompe disease: there are so many faces in this disease. Someone has the activity of CPK (creatine kinase) at the upper limit of the norm (about 300 units / l), and for someone - under 3000 units / l. In one patient, the disease begins with shortness of breath and sleep apnea, while in another, skeletal muscles suffer more, but everything is fine with breathing. Pompe disease with a late onset can manifest itself at 5 years and at 55.

If you have been diagnosed with Limb-Girdle Muscular Dystrophy or Erba-Roth Myopathy, you may have late-onset Pompe disease.

Get tested for Pompe disease for free. To do this, you need to find a doctor of any specialty who will agree to help you. This doctor needs to call the Pompe disease diagnostic support hotline - 88001002494 (about the diagnostic program on the MCSC website).

Additional Information: .

The analysis is done on dry blood spots. The hotline specialist will tell you how to do this and where to get the necessary materials.

First, a screening enzyme test will be done to see if you have been ruled out for Pompe disease. If the result shows that it is not excluded, then the laboratory will conduct a DNA analysis, and only its result will put an end to the question of the presence of Pompe disease.

Don't despair if you can't find a doctor: you can take the test yourself.

In Moscow, this can be done, for example, at the Medical Genetic Research Center on the street. Moskvorechye, 1. If you do not live in Moscow and want to rule out Pompe disease, then write Inna Stanovoy- the most active Russian patient with Pompe disease, she will tell you how to act.

The drug for the treatment of Pompe disease - Myozyme - is registered in Russia, almost all Russian patients with Pompe disease receive it free of charge. It is not easy to get it, but it is worth it, because Myozyme is a pathogenetic therapy, that is, one that acts on the cause of Pompe disease, greatly slowing down or stopping its development, and not just alleviating the symptoms.

Don't waste time! What if you have Pompe disease?

It is inherited in an autosomal recessive manner (children of healthy parents get sick).

Development: The disease begins at the age of 14-18 years. Atrophy (dystrophy) of the muscles of the pelvic girdle develops gradually, leading to a change in gait, which resembles a "duck". Then the process extends to the muscles of the shoulder girdle and back muscles.

Symptoms: Patients have difficulty getting up from the floor, helping themselves with their hands; they climb the steps of the stairs, leaning their hands on the railing. Weakness and atrophy of the muscles of the shoulder girdle make it difficult to raise the arms up. Atrophy of the muscles that fix the shoulder blades leads to the development of pterygoid shoulder blades. Movements in the hands and muscles of the face are not disturbed. It is possible to increase the calf muscles of the legs, which become dense to the touch, but the strength in them is reduced. This is pseudohypertrophy of the calf muscles, which develops as a result of the growth of connective and adipose tissue in them. The intellect of patients does not suffer.

The course of the disease is long. By the age of 35-40, patients lose the ability to move independently.

PSEUDOHYPERTROPHIC DUCHENNE MYOPATHY

The most malignant of all diseases of the neuromuscular system.

This disease is observed only in boys, that is, it is inherited linked to the sex chromosome. The disease is transmitted through the maternal line.

Development: The disease begins in childhood, at the age of 3-5 years, the atrophic process captures the muscles of the pelvic girdle and thighs, as a result of which difficulties appear early when walking uphill, up the stairs, the gait becomes a duck. The child often falls, rises with difficulty. The static changes. By the age of 10-12, patients with Duchenne myopathy lose the ability to move independently and become bedridden.

With this form of myopathy, the intellect may suffer. Find changes in the heart muscle. Pseudohypertrophy of the calf muscles develops. The basis of all progressive muscular dystrophies is the gradual death of the muscle fibers of the skeletal muscles and their replacement with connective and adipose tissue. As a result, pseudohypertrophy of muscles develops, more often calf muscles (with Duchenne and Erb myopathies) and retraction (shortening) of the Achilles tendons. Muscle death occurs as a result of a pathologically altered metabolism about them. Protein and carbohydrate metabolism is grossly disturbed.

Treatment: A diet rich in proteins (fish, meat, cottage cheese) and vitamins. Movement should not be restricted, on the contrary, physiotherapy and massage. Retabolil injections are carried out in courses (1 injection per week, 4 injections in total), ATP (15-20 injections per course), cerebrolysip (1 ml intramuscularly, 20-30 injections), as well as anaprilin (obzidan) 20-40 mg each 2 times a day (within 4 weeks, followed by discontinuation of the drug with a daily dose reduction of 10 mg). It is also recommended to take glutamic acid (0.5 g 3 times a day), exazil (1 tablet 2 times a day). It is possible to carry out fractional transfusions of one-group blood of 250 ml. Courses of treatment last 4-6 weeks. with a break of 3-5-12 months. depending on the course of the disease.

LANDUZY-DEJERINE PROGRESSIVE MUSCULAR DYSTROPHY

First described by Landouzy and Dejerine in 1885. The disease is the second most common among progressive muscular dystrophies and occurs with a frequency of 1:20,000 people.

Kinds:

1) classic youth type 1A (OMIM: 158900);

2) early childhood;

3) scapulohumeral without involvement of facial muscles (OMIM: 600416).

Symptoms and Development:

1) The age of onset of the classic variant of the disease varies from 10 to 20 years. The first signs of muscle weakness occur in the mimic muscles, giving the patient's face a specific mask-like appearance ("the face of the sphinx"). The lips of patients thicken and protrude ("tapir lips"), there are difficulties in wrinkling the forehead, folding the lips into a tube, whistling. Often, when the circular muscle of the eye is involved in the process, patients cannot close their eyelids tightly, which is most noticeable during sleep.

The bulbar, extracular, and respiratory muscles are usually not affected.

In some patients, congenital aplasia of a part or whole muscle (for example, m.pectoralis) is noted, the etiology of which is not clear. It is also assumed that the first signs of muscle weakness can be noted in the abdominal muscles, which is rarely noticed by both patients and doctors.

Along with the defeat of the facial muscles in the early stages of the disease, weakness of the muscles of the shoulder girdle is noted. The most affected are the trapezoid, rhomboid, pectoral and latissimus dorsi muscles. This leads to a limitation of the range of motion in the shoulder joint (difficulties arise when raising the arms above the horizontal level), and the appearance of the so-called "pterygoid scapulae". Involvement in the process of the muscles of the pelvic girdle and proximal muscle groups of the legs is observed only in a small percentage of patients and only in the later stages of the disease (as a rule, after 15-20 years from the onset of the first signs of the disease). On the lower extremities, the iliac, gluteal, and adductor muscles of the thighs are the most affected. A characteristic feature of the disease is the asymmetry of the lesion, which can be observed even within the same muscle group. Pseudo-hypertrophy of the muscles is not characteristic, but may appear in the late stage of the disease.

The presence of patients with a combination of symptoms of LLP PMD with neurosensory hearing loss and anomaly of the retinal capillaries has also been described.

The disease progresses slowly, without leading to severe disability and reduced life expectancy and fertility of patients.

2) The early childhood form of the disease occurs at the age of 3 to 6 years and progresses rapidly, leading to immobility by the age of 15-20.

Clinical manifestations are similar to those in the classical variant of the disease. This form is characterized by the occurrence of contractures, pseudohypertrophy of muscles, as well as scoliosis in the thoracolumbar region.

Patients with an early onset of the disease in combination with oligophrenia, epilepsy, neurosensory deafness, and retinal vascular pathology are described.

It is most likely that this clinical variant is not an independent nosological form, since a combination of juvenile and early childhood variant in the same family has been described. It is assumed that the classical and early childhood forms of the disease are allelic variants of facial-shoulder-scapular muscular dystrophy.

3) The third option is a rare form of scapular-brachial progressive muscular dystrophy that occurs without damage to the facial muscles. The disease occurs at the age of 12-40 years, is characterized by moderate progression and is inherited in an autosomal dominant manner.

Myodystrophy is a pathology of the development of the muscles of the human body, which has a hereditary character. This pathology is characterized by a slow course and progress of degenerative processes that affect muscle fibers.

Myodystrophy of any type is an incurable disease, but to reduce its manifestations and slow down progress, patients must be prescribed physiotherapy. This diagnosis must be confirmed by a specialist, only after that physiotherapy can be prescribed, in which the progressive neuromuscular disease can slow down.

Types of myodystrophy

Myodystrophy is commonly referred to as a number of diseases, each of which is characterized by muscle atrophy, their pathological weakness. These diseases are hereditary and are associated with genetic disorders. Depending on the severity of the course of the disease, the type of inheritance, the localization of muscle damage, the severity of symptoms is determined.

The most common types of the disease include the following:

1. Duchenne myodystrophy. This pathology is characteristic exclusively for the male sex. Approximately one in 3,000 newborns has this type of disease. It is discovered at an early age. The disease leads to impaired motor functions.
2. Myodystrophy Becker. It also occurs only in boys. Its symptoms are less pronounced, the disease proceeds more easily, but over time it still leads to disability.
3. Congenital dystrophic myotonia. This type of disease can be found in children of both sexes. Often children with this pathology suffer from respiratory disorders, muscle weakness. Almost all muscles of the body have a weak tone.
4. Myodystrophy of Leiden. With this type of disease in girls and boys, the muscles of the shoulders and pelvis are affected.
5. Erb-Roth myodystrophy. This disease begins to develop, most often at the age of 10-20 years. In rare cases, the onset of the pathological process is also possible at a later age - up to 40 years. As a rule, within 10–15 years, the disease leads to complete immobilization.
6. Myodystrophy of Landouzy-Dejerine. The disease also begins to develop at the age of 10-20 years. Affects the pathology of the facial muscle and shoulder complexes.

These cases are the most common, but in general, myodystrophy is a rare disease.

The course of pathology

The prognosis of pathology is generally unfavorable. As a rule, no more than 20 years pass from the onset of the development of Duchenne muscular dystrophy to death. If the disease is diagnosed in a child, then, as a rule, he does not survive the 20-year milestone. Most patients sooner or later become completely disabled. Depending on the type of disease, the pathology may not affect all the muscles of the body, in this case, complete immobilization does not occur, but the diseased area completely loses its tone.

With Becker's myodystrophy, it can take up to 25 years from the onset of the disease to completely immobilize the patient. As a rule, patients reach middle age.

In congenital dystrophic myotonia, children often die in infancy.

But if the death did not occur during the first year of life, then, most likely, a person will survive childhood and even the probability of reaching middle age for him will be quite high.

The course and symptoms of Becker and Duchenne myodystrophy are quite close, but Becker-type disease usually debuts after the age of 10 years, since its course is easier and the symptoms are less pronounced. Congenital dystrophic myotonia is usually detected during the period when the child begins to walk - at the age of 1–1.5 years. Early symptoms of this type of pathology include:

• weakness of the back muscles and legs;
• the child begins to walk later than normal, his gait often resembles a duck;
• getting up from the floor for a child is quite difficult;
• the calf muscles are dense to the touch, visually appear enlarged, but their weakness is noted.

Along with the progress of the disease, new symptoms appear:

• hand weakness;
• rachiocampsis;
• increasing difficulty walking over time;
• at the age of about 12 years, the child can no longer move independently - he needs a wheelchair;
• slowing down of intellectual development, which is expressed by certain difficulties in learning.

With Erb-Roth myodystrophy, the disease can manifest up to 30 years. Moreover, the later the development of the disease begins, the easier it is tolerated: its progress is slower, and the symptoms are less pronounced.

Landouzy-Dejerine myodystrophy is most often found at the age of 20-25 years. This disease is also called facial-shoulder-shoulder dystrophy at the location of the pathological process.

It is often possible to determine Landouzy-Dejerine's myodystrophy even at an earlier age, if the disease is of a family nature and the child begins to be monitored from an early age

Features of each form of the disease

All forms of the disease differ in the localization of the pathological process, the type of inheritance, the age of onset of manifestations. Also, not all forms of the disease occur with the same frequency and are equally well studied.

Dushshen's myodystrophy

The most studied form of pathology is Ducheshen's myodystrophy. This form has a malignant course and a poor prognosis. As a rule, at the age of 14–15, patients are already completely immobilized. A child cannot walk independently at the age of 8-10.

The pathological process begins with the legs and the belt of the lower extremities. The distribution is ascending. After the lower extremities, the muscles of the back, arms, and shoulder girdle are involved in it. At the thermal stage of development, the muscles of the pharynx, face, and respiratory muscles are affected.

The first signs include gait disturbance and pseudohypertrophy - a visual increase and thickening of the muscles

The calf muscles are affected first, but pseudohypertrophy may also occur in other areas:

• buttocks;
• deltoid muscles;
• press;
• language.

The heart muscle suffers quite often, and disorders develop in the early stages of the pathological process. Sick children often suffer from mental retardation. In different cases, the degree of manifestation of oligophrenia is different, it is assumed that this depends on hereditary characteristics.

Myodystrophy according to Becker

Similar in clinical manifestations to Ducheshen's myodystrophy, this form of the disease is characterized by a benign course. In inheritance, the so-called grandfather effect is often observed. This is how cases are called when a patient passes on a pathological gene to a grandson through a daughter. This option is possible due to the fact that patients retain their ability to work longer and their fertility does not suffer, as among patients with Duchshen's myodystrophy.

The first manifestation of the disease begins at 10–15 years of age. Often up to 30 years the patient is still able to walk - sometimes longer. At the same time, the intellect of patients does not suffer, that is, oligophrenia is not observed. Also, cardiomyopathy develops only in rare cases.

Rare forms of the disease

The most rare forms of the disease, characterized by a milder course, include:

• Dreyfus-Kogan myodystrophy;
• Mabry form;
• myodystrophy of Rottauf-Mortier-Beyer.

The first form of the disease differs from the others in that patients with it do not develop muscle pseudohypertrophy. Also, the mental abilities of a person are preserved, and cardiomyopathy begins to develop after 30-40 years.

The Mabry form does not have markers characteristic of X-chromosomal pathologies, although it is transmitted along this chromosome. Pseudohypertrophy of muscles is strongly expressed.

The Rottauf-Mortier-Beyer form is characterized by a violation of flexion abilities in many joints. This process begins with the distal parts of the legs, then the neck is affected, gradually the process passes to the entire spine. The patient develops a permanent pathological position of the head due to impaired neck flexion.

Patients develop paresis, but they are expressed moderately: the shoulder girdle is most often affected.

The disease progresses very slowly, so many patients remain fully able to work almost throughout their lives. The most likely cause of death is cardiomyopathy. Death usually occurs between the ages of 40 and 50.

Erb's juvenile myopathy

The first symptoms of the disease appear rather late, but there are known cases of Erb's pseudodushchenovskaya myodystrophy. In this case, the first symptoms develop before the age of 10 years. The course of the disease is more severe than in those patients in whom the first manifestations were detected later. Intellectual abilities in patients are usually preserved. The pathological process usually begins with the pelvic girdle, then affects the shoulder. In some cases, they suffer at the same time.

Facial-shoulder-shoulder form

Landouzy-Dejerine myodystrophy is more common in women. This form is characterized by a relatively simple course, but it can be aggravated by excessive physical exercise, including irrational physiotherapy exercises.

Most often, patients live for a long time - up to 60 years and even longer. The pathological process spreads from the facial muscles to the shoulder girdle, and then to the proximal parts of the arms. After that, it is sometimes possible to spread the pathology to the lower extremities. Often the muscles are affected asymmetrically.

Diagnosis of pathology

It is most often possible to diagnose myodystrophy based on the results of a survey of parents. If this disease is suspected, a physical examination is performed.

Blood tests are required to establish a diagnosis.

An important component of a comprehensive examination to obtain a complete picture is taking blood for analysis. According to its results, the level of creatine phosphokinase is determined. This enzyme is also present in healthy muscles, but with myodystrophy, its level is significantly increased.

The physical examination is an electromyography. According to its results, it is possible to determine the electrical activity of the muscles. Structural disorders of muscle tissue are determined by taking a small sample of it for examination by biopsy. According to its results, in patients with myodystrophy, not only a violation of the structure is determined, but also an increased content of fat cells.

Be sure to conduct echocardiography, which ensures the detection of signs of damage to the heart muscle. Diagnosis must be comprehensive in order to detect any lesion.

Complications of pathology

Due to dystrophic processes in the muscles, even with the localization of pathology in a certain muscle group, the entire musculoskeletal system is gradually involved in the pathological process. Usually, patients are very susceptible to respiratory tract infections due to the involvement of the chest muscles in the pathological process. In the later stages of the development of myodystrophy, respiratory infections can pose a deadly threat to a person.

Over time, thickening of the heart muscle develops. This affects the work of the entire cardiovascular system. The contractility of the heart muscle is reduced.

Heredity of the disease

Two types of pathology, such as Duchenne and Becker myodystrophy, are not only similar in their symptoms, but are also observed exclusively in boys. In fact, girls can also be carriers of an abnormal gene, because it is a genetic disorder that causes the disease, but the disease does not manifest itself in girls.

The defective gene that causes the disease is located on the X chromosome

Pathology develops if there is a structural defect in the gene responsible for the production of a protein that contributes to the normal functioning of the muscular system - dysgrofin.

If a girl has an abnormality in this gene on one X chromosome, then the gene on the second X chromosome compensates for this. In boys, there is nothing to compensate for the defect. At the same time, female carriers can pass on the defective gene to their sons, so inheritance through the female line is quite possible.

Children of a female carrier in 50% of cases either become carriers (if the child is female) or inherit the disease. Rarely, but still, there are cases when the disease occurs spontaneously in a boy whose mother is not a carrier. Leiden's myodystrophy is inherited by a child if both of his parents are carriers of the defective gene.

Erba-Roth's myodystrophy is transmitted from one of the parents - a healthy carrier - to the child. It used to be thought that boys get sick more often, but now it has been proven that the likelihood of the disease for children of both sexes is equal.

Unfortunately, it is impossible to cure any of the types of myodystrophy. But physiotherapy allows you to maintain at least some muscle tone. Treatment includes electrophoresis, current therapy, etc. Taking measures allows you to delay the moment of immobilization and the onset of disability as long as possible.

In domestic literature, this form is known as Erb's juvenile myopathy, but in foreign literature it is described as limb-girdle myodystrophy. Occurs with a frequency of 1.5:100,000.

A number of authors distinguish an autosomal recessive form of myodystrophy with an early onset and severe course, resembling Duchenne myodystrophy (the so-called pseudo-Duchenne form). In contrast to the X-linked form of Duchenne, this form of ECG has a normal appearance, although cardiac pathology may develop in the late stage of the disease. The frequency of this form is about 1/4 of the frequency of the true form of Duchenne.

The onset of the disease most often refers to the middle of the second decade of life (14-16 years), which determines one of the names - the juvenile form, but the first symptoms can appear before 10 years, and sometimes after 30 (the so-called late myopathy).

In most cases, limb-girdle myodystrophy debuts with symptoms such as muscle weakness and then atrophy of the muscles of the pelvic girdle and proximal legs, in more rare cases, weakness occurs simultaneously in the muscles of the pelvic and shoulder girdle. As a rule, the muscles of the back and abdomen suffer quite significantly, which is manifested by a change in the “duck” gait, difficulty getting up from a prone position, pronounced lordosis in the lumbar region and protrusion of the abdomen forward. The muscles of the face in most cases do not suffer.

Erb's myodytrophy is characterized by moderate pseudohypertrophy, tendon retractions, and contractures. Terminal atrophy may occur. The intellect of patients does not suffer, the heart muscle for the most part is also not affected. The level of enzymes in the blood serum usually increases, especially in the early stages of the process, but not as sharply as in X-linked forms of myodytrophy.

Electromyography reveals a muscular type of lesion with a decrease in the amplitude of biopotentials and a preserved frequency, however, according to the observations of some authors, signs of denervation may be observed in the distal muscles.

Erb's dystrophy - hereditary disease with an autosomal recessive type of transmission, both sexes are affected equally often without much difference in the severity of manifestations.

Here is a genealogy of the S-family, characteristic of this suffering.

Notes that mother and father come from the same village This suggests blood relationship. In this family, all three children (two girls and one boy) are homozygous carriers of the mutant gene, although according to Mendel's laws, 25% of children should get sick.

The expression of a mutant gene can vary widely."Small" signs of the disease can be detected by a thorough examination of all family members. Often, with Erb's myodystrophy, indications of a similar disease in siblings cannot be identified either clinically or with additional research methods, that is, there are so-called "sporadic" cases.

Erb's myodystrophy. The designations are the same as in the figure.
.

In the next observation, intrafamilial clinical polymorphism can be traced, due to increased expressivity by exogenous factors.

Patient D., 30 years old, was in the clinic of nervous diseases. Complaints at admission to a decrease in strength in the arms and legs, gait disturbance, difficulty walking up the stairs. At the age of 16, weakness first appeared in the legs, then soon in the arms, it became difficult to raise the arms, and the gait changed.

Gradually, weight loss of the muscles of the arms, legs, and torso developed. The patient's brother, aged 32, who did not present any active complaints, was found to have slight hypotrophy of the muscles of the shoulder girdle with a wide interscapular space, a slight lag in the angles of the shoulder blades when raising the arms, slight hypotrophy of the small muscles of the hands, and a moderate decrease in strength in the proximal parts of the arms and legs. Tendon reflexes are alive. A "duck" gait is planned.

The somatic status of the proband is without features. In the neurological status - slight divergent strabismus (history in school years traumatic brain injury), slight weakness of the circular muscle of the eye on both sides. The volume of active movements in the proximal parts of the arms and legs was limited with a decrease in muscle strength up to 3 points.

Pronounced lumbar lordosis. Winged blades. Gait "duck". Hypotrophy of the muscles of the pelvic and shoulder girdle, back muscles. Tendon reflexes are not elicited. EMG indicates the muscular level of the lesion.

ECG- without pathology.

General blood and urine tests without deviations from the norm.

CPK activity- 1.2 U, F-1,6-F-aldolase - 12 U, LDH - 225 U. Protein, albumin, inorganic phosphorus, bilirubin, urea, glucose in blood serum - without deviations from the norm.

The onset of the disease at the age of 16, a relatively favorable course, proximal flaccid tetraparesis with a characteristic change in gait, pterygoid scapulae and the disappearance of tendon reflexes, as well as the nature of EMG, slight hyperfermentemia, make it possible to diagnose Erb's myodytrophy.

There is one more patient in the family with a significantly milder form of the disease, which demonstrates intrafamilial differences as a result of different expressiveness. It is noteworthy that the proband with a more severe form of the disease has a history of traumatic brain injury.

Erb's myodystrophy- the most "amorphous" form without any specific symptoms. Most phenocopies of myopathies imitate this particular form of pathology, therefore, in sporadic cases, a thorough examination should be carried out to exclude such suffering as inflammatory damage to muscles such as polymyositis, using immersed electrodes in an electromyographic study, and also carried out for pathomorphological analysis, especially in the presence of pain syndrome in the form of spontaneous pain or pain on palpation of the muscles.

It is also necessary to keep in mind the endocrine forms of the myopathic syndrome, medicinal (steroid, delagil), toxic (alcohol, etc.) and carcinomatous myopathies with muscle damage in old age.

"Neuromuscular Diseases"
B.M. Gekht, N.A. Ilyina

Erb's myopathy occurs in children and young men, is caused by gene mutations. In a developing fetus, various factors can provoke such a disease.

Such a disease affects the descendants of healthy citizens and kids from dysfunctional families. Pathology is diagnosed in children from 14 to 18 years old, but can manifest itself at an early age of about 3 years. Only in boys it appears Erb's myopathy.

Taking into account which muscles are susceptible to damage, the classification of the disease is transformed. Duchenne myopathy is considered the most common variety and has the highest degree of complexity. This pathology is hereditary in most cases, it develops rapidly. The problem with the work of dystrophin, which regulates the strength of membranes, is the main cause of the disease.

Often this pathology occurs only in men. Girls in most examples act as carriers. Such myopathy develops from the age of three, it is distinguished by distinct symptoms, as evidenced by the disease.

If at such a young age the baby is still able to make some kind of body movements, then by 12 he can no longer move. The calf muscles on the legs are most susceptible, in which they thicken. Scoliosis and other possible injuries occur.

At Becker's myopathies heart failure occurs. This aggravates the general situation. The transformation can be traced in the primary stages of myocardial injury. All this can be determined after performing an ECG or echocardiography. If the therapy of this pathology is neglected, muscle weakness and breathing problems may develop. These symptoms can lead to death.

For Becker's myopathy, there are 2 diagnostic methods:

• Genodiagnostika.
• Analysis of dystrophin in muscle tissues.

Often, the second option is resorted to when this disease is suspected, so the diagnosis can be confirmed or refuted.

The main therapeutic technique is aimed at preventing pathology. Exercise therapy can help reduce muscle transformations, devices are used to facilitate movement. Surgical procedures are resorted to in difficult situations. Myopathy at the same time threatens the life of people.

The main cause of the disease is genetic transformation that develops during fetal development. Erb's myopathy can be inherited. The most obvious sign is weakness in the muscles. There is atrophy and cessation of their possible development.

Therefore, after some time they dry up, the ability to move freely disappears. In this case, patients do not experience painful symptoms, only weakness is present. It does not disappear even after a long sleep, after a while it begins to worsen.

Causes of the disease and the possibility of complications

Erb-Roth myopathy is considered a primary pathology that occurs after a certain period due to poor heredity or genetic transformations. The main factor is the problem with the gene pool of the fetus during pregnancy, which occurs due to pathology or smoking, drinking during pregnancy.

The developing fetus is harmed enormously. A person develops hyperlordosis, signs of pterygoid scapulae, facial nerves spoil visual characteristics.

The reasons for the violation of the gene pool include:

• Heredity.
• Work in unhealthy conditions.
• Interaction with chemical reagents.
• Chronic use of antibiotics.
• late pregnancy.
• Constant nervous tension.

Developing muscular dystrophy with the appearance of complications can be deadly. The condition can be aggravated in the following ways:

• Hernia.
• Myotonic dystrophies.
• Excessive branching of nerve fibers.
• Lack of oxygen.
• Difficulties with movement.
• Pneumonia.

To get rid of such complications or delay their occurrence, you need to follow the advice of specialists.

Symptoms

Weakness and atrophy of muscle tissues are considered the main signs of Erb's myopathy. Patients do not experience pain, constant weakness does not go away after a long rest. In the first stages of the disease, there are slight short-term improvements after sleep and rest. After some time, weakness resumes.

Pterygoid scapulae begin to appear. The gait becomes iridescent. The chest and abdomen move forward. The main distinguishing feature is the hypomimic physiognomy with distinctly forward lips.

A part of the subnervous apparatus is subject to transformation. Patients with Erb's myopathy are characterized by a thin waist. Contractures develop rapidly, therefore, muscle tissue in the area of ​​​​the feet and legs is reduced. The patient begins to limp, leans on his thumbs. The concentration of fatty acids in the body increases. The level of potassium in the circulatory system increases. Patients have difficulty climbing stairs or getting up from a chair.

When trying to get up from a lying position, the patient tries to rest with his hands and go through several stages to get up. After that, muscular dystrophy turns into atrophy, the muscles in the arms and torso become thinner.

The disease process is long, because the patient, feeling weak, can walk independently up to 45 years and longer.

Diagnostics

The diagnosis of pathology is determined without difficulty. When diagnosing Erb's dystrophy, the age category, hereditary factor, and the rate of development of the pathology are taken into account. When examined by a neurologist, it is possible to determine the deterioration of reflex activity before the onset of loss, muscle tone is aggravated, there are joint contractures.

Contrary to possible misconceptions, fascicular twitching of muscle tissue does not occur. When registering biocurrents in muscle tissues, the amplitude decreases, but not the frequency of discharges. ENMG revealed a decrease in the duration of action potentials, polyphasic.

The transformation of the activity of creatinine kinase, AST and other enzymes is often detected. The composition of electrolytes may change. The diagnosis is reliable when performing a histological examination of muscle tissue. The shape and dimensions of muscle fibers are transformed, tissues begin to recover, and their volume increases. Between the fibers there is fat or connective tissue. The fibers are not distributed by individual kidneys, as in neuronal myopathies.

Methods of treatment

Before pregnancy, girls need to interact with chemicals as little as possible and drink alcohol. In the process of bearing a fetus, it is undesirable to drink alcohol or smoke.

You can't use antibiotics either. When children have Erb's myopathy, experts recommend visiting massage therapists at least 2 times a month. Do more exercise therapy, walk in the air, swim, more physical activity.

Doctors advise to carry out all the main therapeutic methods in a hospital.

The following medications may be prescribed:

• Cakinton.
• Cerebrolysin.
• Vitamins.

Possible Complications

Erb's juvenile myopathy is characterized by possible complications from which people often die. These often include:

• Problems with respiratory function.
• Complete loss of the ability to move independently.
• Pneumonia.
• Curvature.
• Paresis.

It is not possible to prevent such complications, but it is possible to delay their occurrence.

Today there is no technique to get rid of Erb's juvenile myopathy. Doctors advise patients to do physical therapy exercises, go to the pool, walk outside, be more active. Every few months you need to do a massage, but the prescribed medical procedures are preferably carried out in a hospital.

The prognosis for various muscular dystrophies is often negative. Pathology worsens over time, covers muscle tissue. Over time, the patient's mobility deteriorates. In this case, the pathology does not lead to death. Death occurs more often due to bedsores, infectious processes.