Myopathies - Causes, symptoms and treatment. MF.

Myopathies are primary muscular dystrophies, hereditary degenerative diseases, which are based on muscle fiber damage and progressive muscle atrophy.

Causes of myopathy

Myopathies are diseases of metabolic disorders in the muscle, the level of creatine phosphokinase increases and muscle loses its ability to bind and retain creatine, the content of ATP decreases, which leads to muscle fiber atrophy. The theory of "defective membranes" through which muscle fibers lose enzymes, amino acids is recognized. .. The disruption of biochemical processes in muscles leads ultimately to damage and death of muscle fibers.

Symptoms of myopathy

Primary myopathy begins gradually in most cases in childhood or adolescence.

Myopathic manifestations can significantly increase under the influence of a variety of adverse factors - infection, overexertion, intoxication.

The disease begins with the development of weakness and atrophy of a certain group of muscles. In the future, the dystrophic process captures all new muscle groups, which can lead to complete immobility. Primarily affected muscles of the pelvic and shoulder girdles, trunk and proximal limbs. The defeat of the muscles of the distal parts of the limbs is rare in severe cases. Muscular atrophy, as a rule, bilateral. In the initial period, atrophy may predominate on one side, but with the course of the disease the degree of muscle damage becomes the same in symmetrical muscles. As atrophy develops, muscle strength decreases, tone decreases, tendon reflexes decrease. At an atrophy of some muscle groups, others may be hypertrophied( increased).However, pseudohypertrophy develops more often - muscle volume increases not due to muscle fibers, but due to the increase in adipose tissue and connective. Such muscles become dense, but not strong.

Pseudohypertrophy of gastrocnemius muscles in patients with myopathy.

An increase in mobility in the joints can be observed, and the volume of movements may decrease on account of the shortening of the muscles and their tendons.

Depending on a number of features and, first of all, on the age, the onset of the disease, the intensity and sequence of manifestation and growth of atrophies, the nature of inheritance, myopathies are divided into a number of forms. The most common: the juvenile( juvenile) form of Erba, the shoulder - the shovel - facial form of the Landusi - Dejerine and the pseudohypertrophic Duchesne.

In addition, there are variants of genetically heterogeneous( diverse) forms. Nosological forms of myopathies with different types of inheritance are described. Within the same genetic variant, allelic series( different forms of the same gene) are distinguished, due to different mutations in the same gene. In genotypes in a similar clinical picture, more favorable course, prolonged compensation, abortive forms and very severe with early disability are possible.

Survey in myopathy

Characteristic clinical signs of myopathies are symptoms of flaccid paralysis in various muscle groups without signs of damage to motor neurons and peripheral nerves.

The electromyogram shows a typical primary-muscle pattern, characterized by a decrease in the amplitude of the M-response, increased interference and polyphase potential.

When biopsies are carried out( muscle atrophy, fatty degeneration and necrosis of muscle fibers with connective tissue proliferation are revealed, some nosological forms reveal changes in muscular fibers specific for congenital benign structural myopathies, such as the central location of nuclei or the presence of framed vacuoles. When analyzing blood, an increase in the activity of creatine kinase, aldolase, lactate dehydrokinase and other enzymes can be detected.

In urine risesthe level of creatine and amino acids, and the level of creatinine decreases

Accurate diagnosis of individual nosological forms is possible only when conducting molecular genetic analysis aimed at identifying mutations in a particular gene and, in some cases, studying the concentration of a protein in a biopsy of muscle fibers.

Myopathies are a hereditary disease and in the early stages of the disease, it may be necessary to examine all members of the family for diagnosis. General clinical signs:

• increasing atrophy of the muscles of the shoulder and pelvic girdle, proximal limbs;
• atrophy predominates over the severity of muscle weakness;
• presence of compensatory pseudohypertrophies;
• is a slow progressing course;
• cardiac dystrophy;
• presence of autonomic disorders.

Juvenile form of Erba.

This form is inherited by an autosomal recessive type.

The onset of the disease falls on the second - third decade. Both men and women are ill.

Atrophies begin with the muscles of the pelvic girdle and thighs and extend to the shoulder girdle and muscles of the trunk. Pseudohypertrophy is rare. Patients stand leaning on the surrounding objects - lifting "ladder".As a result of the atrophy of the muscles of the back and abdomen, the curvature of the spine appears forward - hyperlordosis, the waist becomes an "aspen".

"Aspen" waist and hyperlordosis in a patient with myopathy .

The walk is broken - the patients are overtaken from side to side - "duck" gait. Characteristic lagging "pterygoid" scapula. The muscles around the mouth are affected - it is impossible to whistle, pull out the lips with a tube, smile( a transverse smile), lips protrude( lips of the tapir).

The later the disease manifests itself, the more favorably it proceeds. The early onset is difficult, leading to disability and immobility.

Pseudohypertrophic Duchesne form.

Inherited from a recessive type linked to the floor. The most malignant myopathy.

Begins most often in the first three years of life and less often from five to ten years. The boys are ill. Symptoms start with atrophy of buttocks, pelvic floor muscles, thighs. Early pseudohypertrophy of gastrocnemius muscles. The process quickly captures all muscle groups. The child is difficult to get up off the floor, climb the stairs, jump. When progressing, he is confined to bed. There are joint contractures and bone deformities. It is possible to develop the syndrome of Itenko-Cushing( obesity, endocrine disorders).In a number of cases, there is mental retardation. With this form, the heart muscle, respiratory musculature is affected. From pneumonia on a background of heart failure patients die.

Becker Myopathy.

An easy version of myopathy linked to the floor.

Begins after 20 years. It is manifested by pseudohypertrophy of the calf muscles( gastrocnemius muscles).Slowly attached atrophy of the pelvic girdle and thighs. There are no mental disorders.

Pleural - facial form of the Landusi - Dejerine.

Inherited by an autosomal dominant type. Both boys and girls are ill.

The disease begins in 10 - 20 years with atrophy and weakness of the muscles of the face. Then the muscles of the shoulder, shoulder, chest muscles, shoulder blades are involved in the process.

Atrophy of the back muscles of the patient with myopathy Landusi - Dezherin a.

The pelvic girdle is rarely affected. If the circular muscle of the mouth is affected, the patient can not correctly pronounce vowel sounds, whistle. The lips are pseudohypertrophic and look great. With the atrophy of the circular muscles of the eyes, the forehead becomes smooth, the closing of the eyes is difficult, the patients sleep with their eyes open. Facial facial expressions become poor( hypomimetic) - "myopathic face", the face of "Sphinx".Mental abilities do not suffer.

The flow is slow, the patients can keep their mobility for a long time and do the feasible work. The earlier the disease begins, the heavier the course. For life expectancy this form of myopathy does not significantly affect.

Other forms of myopathy are rare: ophthalmoplegic( as an easy variant of the humeroscapular facial), distal( distal parts of the limbs are affected in 40-60 years and very slowly progresses).

There are also myopathies - congenital - slowly progressing: myopathy of the central stem, filiform myopathy, central nuclear, myopathy with giant mitochondria and not progressing - myotonia of Oppenheim( sluggish child).They differ in the changes in the structure of the muscle fibers, which are detected by histological examination under a microscope. At the heart of the disease is a deficiency of various metabolic enzymes. Patients with endocrine disorders, impaired liver and kidney function, cardiac muscle, and visual disturbances are present. Treatment of myopathies

Treatment is symptomatic, ineffective. Pathogenetic treatment is being developed, many institutes of different countries conduct gene-level research - using both stem cells and cell cultures. .. but this is the medicine of the future.

Symptomatic treatment is aimed at influencing metabolic processes, especially protein, normalizing the functions of the autonomic nervous system, improving neuromuscular conduction. Anabolic hormones( nerobol, retabolyl, amino acids( glutamic acid, cerebrolysin, ceraxone, somazine), ATP, vitamin therapy( E, B, C, nicotinic acid), anticholinesterase drugs( prozerine, neuromidine) are used., physiotherapy-electrophoresis with proserin, neuromidin, nicotinic acid, muscle stimulation, light massage, ultrasound. On a number of cases orthopedic correction is shown-shoes, corsets

All patients are observed with a neurologist with involvementcardiologist, orthopedist - traumatologist

Consultation of a doctor on the topic of myopathy

Question: Do I need a diet for myopathy?
Answer: Yes, you need to consume plenty of fresh vegetables and fruits, milk, cottage cheese, eggs, oatmeal, carrots, honey, nutsDo not recommend coffee, tea, spices, alcohol, sugar, potatoes, cabbage, etc.

Question: Do myopathies treat stem cells
Answer: Such methods are being developed, one can consult individually in the stem cell clinic Moscow

Neurologist doctor Kobzeva Svetlana Valentinnovna