Progressive muscular dystrophy of Erba Rot and Duchenne. Erb's myopathy: causes, symptoms, treatment. Recovery prognosis

Erb-Roth myopathy (the common scientific name for the disease is Erb-Roth limb-girdle myodystrophy) belongs to a group of hereditary neuromuscular diseases. What does this mean? This group of diseases is characterized by genetically determined damage to nerve fibers, skeletal striated muscles or anterior horns.

The term "or muscular dystrophy" is used to refer to a large number diseases with a different clinical picture, but they are based on the primary damage to the structure of the muscle fiber, and not motor neurons. Myodystrophies differ in symptomatic manifestations, the timing of the onset of the disease, the rate of progression of symptoms, the genetic nature and the type of inheritance.

Erb-Roth muscular dystrophy is characterized by an autosomal recessive type of inheritance, so the disease manifests itself in children whose parents are carriers of the mutation. Currently, 15 genes have been identified whose mutations lead to the development of this pathology. A gene abnormality leads to a violation of the synthesis of proteins that are included in the structure of muscle cells (myocytes), causing the death of myocytes.

The disease was first described in 1885 by the German neurologist V. Erb. At the same time, V. Roth was engaged in the study of pathology in Russia.

Signs of Erb-Roth myopathy

Women and men get sick with the same frequency. In the population, myodystrophy occurs with a frequency of 1-3 cases per 100 thousand population.

The onset of the disease occurs in the 2nd or 3rd decade of life, but it can also be in childhood. Muscle damage begins in the pelvic or shoulder girdle. The first symptoms of the disease include a change in gait as a result of the development of weakness in the legs (hips). The gait of a person resembles a "duck gait", waddling. Difficulty climbing stairs, getting out of a chair, or getting out of bed.

The defeat of the shoulder girdle is manifested by the appearance of weakness in the arms. It becomes difficult for a person with Erb-Roth muscular dystrophy to raise his arms above his head, and in severe cases, it is impossible. Weakness in the hands prevents the patient from combing his hair, twirling a light bulb over his head, or lifting things to a certain height. As the disease progresses, independent food intake, doing housework brings a person significant difficulties, up to the deprivation of the ability to perform them. Gradually, muscle wasting develops, which is manifested by the lagging of the shoulder blades from the back or ("pterygoid scapula") protrusion of the abdomen forward, a decrease in the waist ("wasp waist"). In the expanded stage of the disease, the muscles of the anterior abdominal wall and back are involved, and a curvature of the spine (lumbar hyperlordosis) is formed. Deep disability, which is manifested by complete immobility of a person, occurs 15-20 years after the onset of the disease. Decreased contractility of the respiratory muscles leads to the development of frequent pneumonia, respiratory failure. Heart failure develops over time.

The mimic muscles are not involved in the pathological process. Intelligence remains intact.

Diagnosis of the disease

To establish the diagnosis, a comprehensive examination of the patient is used, which includes a neurological examination, conducting (ENMG), taking a biopsy material from muscle tissue. Genetic research is mandatory.

Neurological examination reveals a decrease or complete loss of reflexes from the arms and legs, muscle wasting while maintaining the sensitive sphere, as well as a decrease in muscle strength. With the help of ENMG, primary changes in the skeletal muscles are detected against the background of maintaining the conduction of impulses along the nerve fibers. Histological examination of biopsy material reveals degenerative changes in the muscles.

Erb-Roth myodystrophy treatment

No specific treatment has been developed. Symptomatic therapy is used to maintain a person's motor skills.

Used (neurobion, vitagamma), thioctic acid (octolipen), ATP, actovegin.

Exercise therapy exercises and massage courses are required.

Disease prognosis

The rate of progression of Erb-Roth myopathy in different people can vary greatly. As a rule, death occurs from respiratory (congestive pneumonia) or heart complications (heart failure, arrhythmias, cardiomyopathy). With a mild course of Erb-Roth myopathy, a person can retain the ability to move and self-care for many years.

For preventive purposes, genetic counseling of future parents is used, the exclusion of closely related marriages.

Erb-Roth progressive muscular dystrophy is one of the hereditary forms of muscle tissue damage.

The onset of the disease is usually at the age of 10-20 years (debut is possible before 40 years); it takes about 10-15 years to completely immobilize. The transmission of the trait is by a recessive type, linked to the sex.

Information for doctors. Erb-Roth muscular dystrophy is encrypted according to ICD 10 under the code G71.0. In this case, the diagnosis must indicate the stage of the disease (1 - moderate movement disorders, 2 - difficulties arise when walking, performing light physical work, 3 - paralysis, contractures, etc.). After that, the severity of concomitant manifestations (decreased intelligence, heart complications), the rate of progression (fast, medium or slow) are indicated. In case of loss of the ability to move, this fact must be indicated.

Causes

There is no single point of rhenium on the occurrence of muscle atrophy. The hereditary theory dominates. The exact biochemical mechanisms of pathogenesis are not fully understood.

Symptoms

Symptoms of the disease are initially nonspecific and include general weakness, weakness of the back muscles. The disease gradually progresses. The patient ceases to hold the back in a normal position, hyperlordosis develops - posterior hyperextension of the lower back.

Gait changes early enough. It becomes like a "duck" - rolling of the legs due to the weakness of the muscles of the thigh and pelvic girdle. The hypotrophy of the muscles of the upper shoulder girdle develops rapidly. General malnutrition also gradually develops, and then muscle atrophy. Sometimes has pseudohypertrophy of the legs - replacement muscle mass adipose and connective tissue.

Over time, the patient stops performing many active movements. It is significantly difficult to get up, patients have to get up on all fours, help with their hands when getting up. The patient's face becomes amimic, the eyelids are incompletely closed, while the lips, on the contrary, are turned anteriorly and often thicken (tapir lips). The facial expressions of such a patient are sometimes called the face of a myopath.

Diagnostics

The diagnosis of the disease is usually made fairly accurately. When diagnosing Erb-Roth dystrophy, attention is paid to the age at the onset of the disease, heredity, and the rate of progression of the process. A neurological examination reveals a decrease in reflexes up to loss, a decrease in muscle tone, the presence of joint contractures (due to an uneven process of muscle atrophy).

Contrary to misconceptions, fascicular muscle twitching does not happen. When recording muscle biocurrents, the amplitude, but not the frequency of discharges, decreases. According to ENMG, the shortening of the duration of action potentials, the polyphasic nature of the recording are determined.

Biochemically, changes in the activity of creatine kinase, AST and other enzymes are often detected. Sometimes a change in the composition of blood electrolytes is detected.


The diagnosis is considered reliable when carrying out a histological examination of the muscles. The shape and size of muscle fibers change, the perception of their staining with histological dyes changes, muscles are reborn, the volume of muscle nuclei increases. Fat, connective tissue is determined between muscle fibers. At the same time, there is no bundle distribution of fibers, characteristic of neurogenic myopathies.

Treatment

Pathogenetic therapy has not been developed. Treatment is symptomatic and aimed at reducing the rate of progression. Vitamins of group B, vitamin E, ATP, aloe extract intramuscularly, ATP are actively used. Some time ago, the anabolic hormone retabolil was used, but increased muscle breakdown was often noted. Also used drugs such as thioctic acid, riboxin, actovegin.

An important role is given to non-drug methods of exposure. Massage for patients with Erb-Roth dystrophy should be carried out at an easy pace, aimed at combating muscle spasm, strengthening muscles. Exercise therapy also plays an important role. Exercise therapy for the disease should be moderate, but regular, ideally daily. All muscle groups are trained.

The constancy of the implementation of preventive measures allows for a long time to maintain the ability of patients to self-care. In my practice, I recall a patient who, at the onset of the disease at the age of 25 to 60, retained the ability to move independently, to self-service, albeit with a restriction.

Forecast

The prognosis for all muscular dystrophies is usually poor. The disease gradually progresses, covering all muscle groups. Sooner or later, the patient becomes immobilized. Although at the same time the disease itself practically does not lead to the death of the patient. Death is due to bedsores, lung infections, urinary tract infections, etc.

Erb-Roth dystrophy refers to the primary degenerative neuromuscular diseases of a hereditary nature. Sometimes this pathology is called juvenile limb-girdle progressive muscular dystrophy.

Erb-Roth progressive muscular dystrophy can begin in childhood or adolescence, but the age at onset of the disease varies widely - between 10 and 30 years. Both sexes suffer equally, although it was previously believed that there are much more boys and young men among patients with this diagnosis.

Neurologists note that Erb-Roth dystrophy, which began in childhood, progresses faster than those who fell ill in adolescence or adulthood. In addition, in the second case, the disease is milder.

ICD-10 code

G71.0 Muscular dystrophy

Causes of Erba-Roth dystrophy

According to the version that exists today, the causes of Erb-Roth dystrophy lie in a genetic defect transmitted from one of the healthy parents - a healthy carrier of a mutated gene in paired non-sex chromosomes or in the X chromosome. These are genes such as 13q12, 17q12-q21.33, 4q12, and 5q33.

This type of inheritance is called autosomal recessive, and in this way, the offspring are most often transmitted diseases associated with a lack of enzymes and violations of the structural transmembrane proteins of α-, β-, γ- and δ-sarcoglycans.

Erb-Roth progressive muscular dystrophy occurs as a result of muscle tissue damage and atrophy. Among the assumptions regarding the mechanism of the development of pathology, an increased permeability of cell membranes of striated muscle tissue (sarcolemmas) is considered due to insufficient synthesis of sarcoglycans - constituent proteins of the dystrophin-glycoprotein complex, which 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 amino acid-enzyme balance in muscle fibers is disrupted.

A certain role in the etiology of Erb-Roth muscular dystrophy can also be played by the protein isoenzyme creatine phosphokinase, more precisely, its revealed deficiency in muscle tissues and an abnormally high level in blood plasma. This enzyme catalyzes the reaction of oxidative phosphorylation of adenosine diphosphate (ADP) to adenosine triphosphate (ATP) in the mitochondria of muscle tissue cells, that is, it supports the muscle contraction cycle with energy.

Erb-Roth dystrophy symptoms

The main symptoms of Erb-Roth dystrophy, which begins to develop in children and adolescents:

• delay in the onset of independent walking;
• clumsy waddling gait from foot to foot ("duck" type of walking due to symmetrical weakening of the muscles of the hip region);
• Frequent imbalance and instability (stumbling when walking and falling when running);
• Difficulty getting out of bed, from a chair, bending down, going up and down stairs;
• bulging of the scapula ("pterygoid" scapula - a consequence of the weakening of the anterior dentate muscles of the chest and rhomboid muscles of the back);
• a decrease in waist circumference (due to a decrease in the tone of the transverse muscles of the chest, abdomen and ileal-costal muscles);
• pathological fatigue.

The disease progresses and there is a constant general weakness and weakening of the muscular corset of the back and muscles of the shoulder girdle, which leads to posture defects such as hyperlordosis - deformities of the spine in lumbar with a bulge anteriorly. Patients find it increasingly difficult to hold objects in their hands and raise their arms up. The facial muscles of the face also lose mobility, which is accompanied by incomplete closure of the eyelids and protrusion of the lips (due to weakness of the circular muscle of the mouth).

A gradual decrease in muscle tone (hypotrophy) leads to thinning and flabbiness of muscle tissue with its replacement with adipose tissue and fibrous tissue, that is, myodystrophy. And the characteristic symptoms of Erb-Roth dystrophy at later stages: significant loss of muscle mass, stiffness of movements in the joints (flexion contracture), shortening of the tendons (including the calcaneal) and almost complete loss of deep tendon reflexes lower limbs(knee and plantar). In about 20% of cases, patients with this disease develop cardiomyopathies.

Diagnostics of the Erb-Roth dystrophy

Diagnosis of Erb-Roth dystrophy is based on physical examination of patients, family history and analysis of research data:

• genetic testing (used to determine the type of muscular dystrophy);
• electroneuromyography (ENMG);
• biopsy and biochemical study of muscle tissue;
• general analysis crocs;
• blood test for CPK (creatine phosphokinase);
• urine analysis.

Electromyography makes it possible to investigate not only the degree of neuromuscular transmission, but also to find out the level of direct excitability of muscles, which is especially important for the differential diagnosis of Erb-Roth dystrophy with muscle pathologies of neurogenic origin.

Erba-Roth dystrophy treatment

It should be noted right away that, given the genetically determined nature of the pathology, the treatment of Erb-Roth dystrophy is aimed at reducing the intensity of the manifestation of symptoms, at alleviating the condition of patients and slowing down the rate of progression of the disease.

Drug therapy for Erb-Roth muscular dystrophy includes drugs such as:

• complex vitamins (A, groups B, C, D, E);
• ATP - to normalize the energy exchange of cells and activate membrane enzymes, as well as to increase the antioxidant protection of the heart muscle (intramuscularly);
• Galantamine - used for progressive muscular dystrophy of cerebral palsy, myopathies. (tablets are taken orally at 4-12 mg per day - in 2-3 doses);
• Alpha lipoic (thioctic) acid - normalizes metabolism: participates in the regulation of lipid and carbohydrate metabolism(tablets Tiogama, Tiolipon, Espa-Lipon, Dialipon are prescribed 600 mg orally once a day);
• Riboxin is a precursor of ATP, stimulates metabolism, has anabolic, antiarrhythmic and antihypoxic effects (Riboxin tablets are taken orally at 1.2-2.4 g per day);
• Actovegin is used to improve peripheral arterial or venous circulation, as well as for better healing of pressure ulcers (1-2 tablets are prescribed three times a day).

Light massage, hydro-massage, water procedures (swimming) and physiotherapy exercises for all muscle groups are recommended. Exercise and physical therapy help maintain muscle strength and joint mobility for as long as possible, which Erb-Roth muscular dystrophy inevitably reduces

In the summer of 2014, the Swiss pharmaceutical company Santhera Pharmaceuticals announced that clinical trials of the oral drug Omigapil, intended for the treatment of Erb-Roth congenital muscular dystrophy, would begin at the end of the year. The trials will take place at the National Institute of Neurological Disorders and Stroke (NINDS) at the US National Institute of Health (NIH USA) under the auspices of the Swiss Muscle Diseases Research Foundation and the American organization of patients with muscular dystrophies Cure CMD.

And researchers in the United States, led by Professor Jerry Mendell, published the results of a trial of the use of gene therapy based on the introduction of a modification of the adeno-associated virus AAV1 from the Parvoviridae family into an affected muscle tissue cell (without integration into its genome). The virus causes a mild, well-programmed immune response, as a result of which the synthesis of alpha-sarcoglycan is restored. So, perhaps, in the near future, a serious congenital disease - Erb-Roth dystrophy - can be cured.

Dystrophy muscular system is a chronic hereditary disease. Its main symptom is considered to be gradually increasing muscle weakness and degeneration. There are several types of pathology. In today's article, we will dwell in more detail on the treatment methods, causes and symptoms of Erb-Roth muscular dystrophy.

Medical certificate

The disease is a polymorphic variant of hereditary muscular dystrophy. It differs from other types of pathology in the clinical picture, course and time of onset. For the first time a description of the disease was presented by the German neurologist W. Erb in 1882. Simultaneously with him, V. Roth was engaged in this problem in Russia, which he later designated as "muscle dryness". It was by the names of the two scientists that the disease was named. In modern neurology, several of its names are used - progressive muscular dystrophy of Erb-Roth, limb-girdle muscular dystrophy.

Pathology begins its development, as a rule, in childhood. However, the age at which symptoms first appear can range from 10 to 30 years. Men and women equally suffer from manifestations of muscular dystrophy. Neurologists note that a disease that began in childhood progresses rapidly when comparing its course in adolescence and adulthood. In addition, in the second case, it proceeds in a mild form.

Pathogenesis of the disease

What is myodystrophy? Reasons and effective methods treatment is advisable to consider after studying the pathogenesis of the disease. It begins its development with pathological changes in muscle tissues, 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 can be of a descending nature when weakness is observed in the proximal arms. However, most often it has an ascending type of propagation 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 fatty layer is formed. Over time, muscle tissue is completely replaced by adipose tissue. The result is immobilization followed by disability.

Main reasons

Erb-Roth muscular dystrophy is an independent disease, the appearance of which is caused by a hereditary or genetic factor. Its main reason is changes at the genetic level in one of the parents or the patient himself. In 30% of cases, the violation occurs primarily. In all other situations, it is hereditary.

Intrauterine gene developmental disorders, due to the appearance of which pathology begins, are usually provoked by:

• addictions of a pregnant woman;
• living in places with poor ecology;
• work in hazardous work after conceiving a child;
• late childbirth;
• uncontrolled use of antibiotics;
• prolonged contact with toxic substances.

With the development of complications, the disease becomes fatal to humans. Among the negative consequences, doctors include paralysis of the limbs, congestive pneumonia, various disorders in the respiratory / cardiac system.

Clinical picture

The main symptoms of Erb-Roth muscular dystrophy are the following disorders:

• "Duck" gait, when the patient waddles from one leg to the other;
• imbalance and instability;
• difficulty getting out of bed, bending over;
• bulging of the scapula;
• decrease in waist circumference;
• pathological fatigue.

As the disease progresses, the muscular corset of the back and shoulder girdle weakens, which leads to lordosis. It becomes more and more difficult for patients to hold objects in their hands. The facial muscles on the face also lose mobility. This is manifested by incomplete closure of the eyelids and protrusion of the lips.

Erb-Roth muscular dystrophy can develop for many years. In medical practice, there are cases when patients have lived with muscle weakness for more than 20 years. Only after this time did they develop other symptoms.

Diagnostic methods

If symptoms appear, indicating muscular dystrophy, it is necessary to visit a neurologist. First of all, the doctor pays attention to the patient's history, conducts a physical examination. Then a comprehensive examination is assigned, which consists of the following activities:

• genetic testing;
• electroneuromyography;
• biopsy and biochemical study of muscle tissue;
• blood test for creatine phosphokinase;
• Analysis of urine.

Electroneuromyography is considered the most informative diagnostic method. It allows you to assess not only the degree of neuromuscular transmission, but also to determine the level of muscle excitability. The latter study is especially important for differential diagnosis. The manifestations of Erb-Roth muscular dystrophy are similar to ALS, toxic myopathy, polymyositis, and a number of other pathologies.

Genetic testing helps to confirm the autosomal recessive nature of inheritance, the presence of mutations. However, a negative result does not disprove the initial diagnosis. Not all types of mutations known to modern science can be detected through such testing. A negative test is an indication for a muscle biopsy. In the case of dystrophy, the study shows a reduced number of muscle nuclei, the presence of necrotic or sclerotic changes.

Features of therapy

How to diagnose Erb-Roth myopathy? The disease is not possible to overcome completely. Therefore, patients with a similar diagnosis are prescribed symptomatic therapy. Its main goal is to improve the patient's quality of life and maintain full-fledged physical activity. In modern medical practice, drugs, exercise therapy and physiotherapy procedures are used.

Drug therapy

Medical treatment of Erb-Roth muscular dystrophy includes the use of the following drugs:

1. Vitamin complexes(A, groups C, E, B and D).
2. ATP for normalization of cell energy exchange and activation of membrane enzymes.
3. Alpha lipoic acid (Tiolipon, Dialipon) helps to restore metabolic processes.
4. Riboxin has antiarrhythmic, anabolic and antihypoxic effects.
5. "Actovegin" improves the healing process of pressure ulcers, normalizes arterial and venous circulation.

The duration of administration and dosage of drugs are determined by the doctor individually.

In case of damage to the heart muscle, "Inosine", glycosides and antiarrhythmics are prescribed. Orthopedic therapy may be required if contractures develop. A decrease in the vital capacity of the lungs against the background of atrophy of the respiratory muscles is a direct indication for connecting to a ventilator.

Exercise therapy

An obligatory component of the therapy of Erb-Roth muscular dystrophy is the exercise therapy complex. The main goals of the exercises:

• development and maintenance of the muscular apparatus;
• proper relaxation;
• prevention of contractures due to which the patient loses the ability to move;
• correct breathing;
• prevention of scoliosis and other similar deformities.

In the course of therapy, physical and breathing exercises, massages. In case of pathologies of the musculoskeletal system, the exercise therapy complex is always selected individually by a specialist. The exception is minor loads in the pool. In this case, the instructor first shows the exercises, and after several sessions the patient can already repeat them on his own.

Features of physiotherapy

With muscular dystrophy (myodystrophy) of Erb-Roth, physiotherapeutic effect is possible in two directions: wraps, electrophoresis with enzyme agents. In rare cases, electrostimulation is prescribed to patients. This procedure causes the muscles to contract. It is recommended in situations where the patient's muscles are so weak that performing simple movements is accompanied by severe discomfort.

Diet

With Erb-Roth myodystrophy, it is important to adhere to a special diet. Correctly 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, salty and smoked;
• use in the diet of fresh vegetables and fruits, lean varieties of fish;
• lack of products with high content gluten and sugar;
• only goat's milk is allowed;
• carbonated drinks and alcohol are prohibited.

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

Recovery prognosis

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

Muscle wasting spreads over time to the cardiac and respiratory systems. This leads to secondary disorders such as heart failure, lung 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, may soon be curable. The positive results of a gene therapy study have recently been published. It implies 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 synthesis of alpha-sarcoglycan is normalized.

Prevention methods

There is no specific prevention of 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. It usually includes genetic testing to identify pathological genes. If necessary, consultation with narrow 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 on early dates... 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 possible complications... In such a matter, each case is individual. Therefore, there are no universal recommendations.

Conclusion

What is limb-girdle muscular dystrophy? This is a serious condition with muscle weakness. This diagnosis is not a sentence, but it causes irreversible damage to the body. However, its timely identification and competent treatment allow to minimize negative consequences, significantly facilitate the patient's life.

The first reports of this disease belong to W. Erb(1882) and V.K.Rotu(1890). The disease makes its debut not only in preschool or adolescence, as the researchers who described it suggested, it may also begin in early childhood. The disease is inherited in an autosomal recessive manner. The first symptoms are weakness and atrophy of the muscles of the pelvic girdle and proximal muscle groups of the legs. Difficulties appear when climbing stairs, when getting up from a sitting position.

Upon attempt to rise from a lying position, the patient performs this action in several stages with the help of his hands (standing up with a "ladder"). Later, the muscles of the trunk and upper limbs are involved in the pathological process. The shoulder blades protrude, especially when the arms are abducted to the sides ("pterygoid" shoulder blades).

The gait of the sick becomes waddling (duck gait), lumbar lordosis is expressed, the chest and abdomen protrude forward. The face is hypomimic ("sphinx face") with protruding lips (tapir lips). The wasp waist is characteristic. The descending type of lesion is much less common in young children. Distribution dynamics pathological process in young children, it is just beginning to come to light. It can be traced more clearly in subsequent years.

Disease slowly progressing. However, the children this stage of the disease, as a rule, does not occur at an early age.

Progressive muscular dystrophy with Dreyfus contractures described by J. Drefus in 1928. The disease is inherited recessively, linked to the X chromosome, only boys are ill. An unusually intense proliferation of connective tissue in the muscles is a distinctive pathomorphological feature of this form of pathology.

Disease begins in the 3-4th year of life with increasing weakness in the muscles of the pelvic girdle, later the lesion of the muscles of the shoulder girdle joins. The characteristic clinical features are the relatively slow progression of muscle weakness and the rapid formation of contractures. Flexion contractures are the first to form elbow joints... The shortening of the muscles of the lower leg and foot leads to a change in gait based on the thumbs. Dystrophic changes also affect the heart muscle.
The course of the disease- slowly progressive. This form of PMD must be differentiated from polyarthritis, myositis, deforming arthrosis.

Under the myotonic phenomenon, on the basis of which a group of different nosological forms is combined, implies the inability of a muscle to quickly relax after a single contraction or a series of sharp contractions.

On EMG with myotonia they find a long-term aftereffect potential, which remains pronounced both with direct stimulation of the muscle, and when acting on the muscle through the nerve.
Diseases This group includes several genetically different forms: myotonia proper, myotonic dystrophy and some other nosological forms.

Primary biochemical defects in myotonic syndromes and their pathogenesis have not been established. In a number of patients, a decrease in the content of arachidonic, oleic and linolinic acids in the muscles was found, while the content of fatty acids C 20: 2 and C 20: 3 was sharply increased, which indicates the pathology of the membranes. In some cases, the concentration of potassium in the blood of patients is increased, the utilization of calcium may be slightly increased and its passive excretion in the urine is slowed down. However, a direct relationship between these changes and the severity of the myotonic phenomenon is usually not noted.

Typical for the myotonic phenomenon pathomorphological changes found in the terminal innervation of muscle fibers are considered. This can be excessive branching of the terminal nerve endings or an increase in the size of the end plates. According to the terminal innervation, the elements of the subneural apparatus change.

Of diseases characterized by myotonic phenomenon, in young children, there are autosomal dominantly inherited congenital Thomsen's myotonia, autosomal recessive myotonia and myotonic dystrophy.