This term unites a group of chronic neuromuscular diseases accompanied by primary muscle damage. Progressive muscular dystrophies are manifested by various disorders in the structure and metabolism of muscle tissue, leading to a decrease in strength and the appearance of progressive weakness in the muscles. Pathologies are characterized by a steadily progressive course.
Etiology and pathogenesis
Primary forms of diseases are caused by genetically determined disorders in the functioning of mitochondria, ion channels of myofibrils, disruptions in the synthesis of muscle proteins and enzymes that regulate metabolism in muscle tissue. The defective gene that causes progressive muscular dystrophy can be inherited dominantly, recessively, or in an X-linked form of inheritance.
Acquired forms of diseases can develop against the background of endocrine pathologies, chronic intoxications, vitamin deficiency, malabsorption, severe chronic diseases of internal organs, and tumor processes.
1.General information
If a medical nosological term ends with “-pathy”, in different cases this may mean a diagnosis that needs clarification, a collective and too general, etiologically unclear diagnosis. Myopathy (Greek lit. “muscle disease”) is a group of diseases, congenital or acquired, the general characteristics of which are disorders of neuromuscular metabolism, degenerative-dystrophic processes and, accordingly, progressive functional failure of muscles, especially skeletal ones.
Epidemiological data regarding myopathies are contradictory and, apparently, incomplete. In any case, this group is one of the rare diseases, and even the most common of them, Duchenne muscular dystrophy, occurs no more often than 14 people per 100,000 population. Mostly men suffer.
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Prevention of pathology
The only way to prevent the development of primary myopathy is to perform a timely genetic examination of the parents. Examinations are also performed in the early stages of pregnancy.
Prevention of secondary forms consists of maintaining an active lifestyle, hardening procedures, giving up bad habits, and properly planning a diet. If there is a high risk of developing pathology, i.e. with a burdened hereditary history, you should take prophylactic medications prescribed by your doctor.
2. Reasons
There are congenital (primary) and acquired myopathies.
Primary are caused by an inherited genetic defect, or the first genetic mutation of this kind in the family.
The essence of the defect is the incorrect coding of proteins that make up muscle tissue (cell membranes, in particular).
This leads to disturbances in the metabolism of such proteins, which entails a “chain reaction” of metabolic failures in the neuromuscular organization, gradual degeneration, dystrophy and atrophy of muscle tissue, which is manifested by a characteristic clinical picture (see below).
Secondary myopathies develop as a result of or against the background of systemic collagenosis (connective tissue diseases), inflammatory processes, endocrine disorders (for example, thyroid pathology), damage to neural tissue, and certain intoxications.
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How to treat myopathy?
As in the case of polyneuropathy, causal and symptomatic treatment can be distinguished. Causal treatment is possible, for example in inflammatory myopathies. In these cases, glucocorticoids (steroid hormones), immunosuppressants or intravenous immunoglobulins are used. Causal treatment of myopathy arising from endocrine diseases (eg, thyroid disease, hyperparathyroidism, or hyperadrenocorticism) involves treatment of hormonal disorders. For drug-induced or toxic myopathy, you should try to stop taking the medication or stop exposure to the toxic compound that caused the muscle damage. In rare cases of genetic myopathy, the essence of which is the absence of one of the enzymes necessary for the proper functioning of muscles, causative treatment is possible in the form of administration of the missing enzyme.
Symptomatic treatment is primarily rehabilitation. In the event that rapid muscle relaxation is a burdensome experience for a patient, pharmacological treatment is used to alleviate the symptom. Some muscle diseases affect other organs, such as the heart muscle. Then it is important for patients to undergo regular examinations with a cardiologist. In addition, genetic counseling should be given to patients with genetic myopathy.
3. Symptoms and diagnosis
Various types of myopathies (myodystrophies) have been described: for example, Landouzy-Dejerine myopathy, Duchenne myopathy, Becker myopathy, Pompe disease, etc. Clinical differences are due to the predominant localization of the neuromuscular process, the specific defective protein, the rate of degeneration, the primary or secondary nature of the disease, in the latter case, the age of onset, etc.
The typical, most common symptoms are increasing weakness in certain muscle groups (shoulder girdle, pelvic muscles, etc.). Apraxia progresses, i.e. difficulties in performing simple actions related, for example, to sanitary and household self-service; The gait changes, facial expressions become impoverished, reflexes fade, and the general physical activity available to the patient is increasingly limited. As atrophic changes worsen (the gradual death of muscle tissue with a reduction in their volume, a decrease in tone and functional status), disorders of the musculoskeletal system are added - deformation of the spine and other bone, articular-cartilaginous, ligamentous structures.
Paresis, congestive pneumonia and other severe complications often develop.
Death usually occurs due to functional failure of the respiratory muscles.
Diagnosis of myopathies is difficult to the same extent as the diagnosis of any rare diseases, although the clinical picture is usually quite specific. The main research method is electromyography. In various clinical situations, the most informative additional methods are MRI, histological analysis of muscle tissue, laboratory blood tests (immunological, biochemical, enzyme, etc.).
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Myopathy - what is the diagnosis?
13.03.2020
Myopathy is not one specific disease, but a whole group of diseases with the same symptoms and approximately the same course, but completely different in origin.
How does it manifest?
Myopathy is muscle dystrophy, that is, they are destroyed for one reason or another, but are not restored in the required volumes or quality. It is clear that this is a general weakening of the muscles. It can apply to all muscles without exception, or to specific groups. Later, the disease affects them all to one degree or another. It is no longer suitable as a propulsion device.
At first, it simply becomes more difficult to walk at a fast pace and, even more so, to run. Long distances have to be broken up into pieces and stops made to rest. If something like this appears, it’s time to worry and see a neurologist . The sooner treatment begins, the better.
Then the muscle fibers begin to disintegrate, this is actually dystrophy. At this stage, it becomes outwardly noticeable that there are serious problems:
- one muscle group, for example, the calves, looks too large relative to the thighs;
- then a characteristic deflection appears in the lumbar , called lordosis;
- the gait turns into a “duck”;
- shoulder blades stick out;
- the stomach protrudes forward;
- shoulders go down.
Full set. The disease is in full swing. All that remains is to devote all our efforts to stopping the speed of its flow.
So what, nothing can be done?
Something is possible. First, you need to determine exactly what myopathy , since there are congenital (primary) forms and nothing can be done about it, but there are acquired (secondary) forms, the onset of which is toxins, infections, endocrine system , severe chronic diseases, COPD , tumors. Secondaries can be dealt with quite successfully, especially if you do not start the process.
The time of onset of the disease is also of great importance. The later in age myopathy begins to manifest itself, the greater the chances of living a long and happy life filled with all the delights. Infantile myopathies leave virtually no chance of this.
How to treat?
Primary myopathy , at the moment, cannot be treated anywhere, in any way. It is a fact. Medicine does not yet know how to change genes in the body of an already formed person, but this does not mean at all that you need to come to terms with the presence of myopathy . Not at all. Maintenance therapy can slow down its development and not only improve the patient’s quality of life, but also prolong this very life. The following drugs are used in treatment:
- steroid hormones ;
- inhibitory breakdown of enzymes that transmit signals along nerves ;
- neurotransmitters;
- vitamin complexes.
Treatment of secondary myopathy is much more effective, since the accompanying sore, which became the “trigger” of myopathy . The correct selection of medications and other procedures gradually eliminates symptoms and myopathies .
Other procedures include physiotherapy , physical therapy , massage , and breathing exercises.
How to live with this?
Even if the diagnosis relates to primary myopathies, you should not despair, you just need to accept it and start acting. Many people rely entirely on medications, but they will not make their muscles strong, but gymnastics can. The truth is, you shouldn’t rush from one extreme to another. Everything should be in moderation, until the first feeling of fatigue. It is better to take a break and repeat the exercise 2-3 times. Almost no one pays attention to breathing exercises at all, but in vain. Muscles also breathe, they simply need oxygen! A massage is required, but also moderate, to remove excess tone after training and invigorate them between them.
Relatives and friends of a person suffering from myopathy should under no circumstances descend to the level of tearful crying and lamentation “why are you being punished like that?” It’s already difficult for a person, there’s no need to make it worse. On the contrary, only a positive attitude and support.
If the disease began in adolescence or older age, then you should pay attention to the choice of profession. It is better to give preference to one that, in an unfavorable situation, will be able to feed a person with myopathy at home. Technology makes it possible to work remotely in many specialties. The main thing is to become a great specialist so that the employer has no doubts when choosing a candidate.
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4.Treatment
There is currently no etiotropic treatment for diseases of the myopathic group, and the most justified hopes in this regard are associated with developments in the field of genetic engineering and cell therapy. The main strategy currently is palliative treatment with the use, depending on specific indications and contraindications, of physiotherapy, replacement therapy, special vitamin complexes, and hormonal agents.
From a certain point, patients need social support (disability), care, and special equipment (strollers, orthoses, etc.). In most cases, with proper supervision, it is possible to prolong the patient’s life as much as possible and maintain an acceptable quality of life for a long time.
How common is myopathy?
The term "myopathy" is very broad and covers many different diseases. Therefore, the overall incidence of myopathy is difficult to determine. As a rule, myopathies are rare diseases. How does myopathy manifest? The main symptom of myopathy is muscle weakness. This most often affects the muscles of the thighs and arms - patients, for example, have difficulty climbing stairs, rising from a sitting position, sitting, or performing activities with raised arms (for example, hanging curtains or doing hair). Muscle weakness may be accompanied by pain. Some myopathies involve the muscles of the face or throat. There may be drooping eyelids, decreased mobility of the eyeballs, slurred speech, and difficulty swallowing. Sometimes the neck muscles are weak - then the head cannot be held up. In some myopathies, weakness of the respiratory muscles may occur, leading to shortness of breath. Sometimes with myopathies there are problems with muscle relaxation, for example, the patient cannot quickly unclench his fingers after clenching a fist. With progressive and long-term myopathies, muscle atrophy occurs. These symptoms may be accompanied by signs of damage to other tissues and organs outside the muscular system.
Forecast
The prognosis is determined by the speed of progression of dystrophic changes in the skeletal muscles, as well as by the age at which the disease begins. In the most malignant form of Duchenne myopathy, complete immobility of patients develops already in childhood. The lethal outcome may be caused by an increase in pulmonary and heart failure, hypoventilation and hypostatic pneumonia. In late forms, beginning after 20–30 years, the course is relatively benign; patients can remain able to work for a long time. Myotubular, nemaline myopathies, “central core disease,” mitochondrial myopathies are usually characterized by slow progression and can become stationary with age.
Bibliography:
Gausmanova-Petrusevich I. Muscular diseases, trans. from Polish, Warsaw, 1971; Kopyeva T.N. and Potomskaya L. 3. Features of skeletal muscle metabolism in progressive dystrophy of the Duchenne form, Arch. pathol. , t. 36, v. 2, p. 35, 1974, bibliogr.; Kryzhanovsky G. N., Pozdnyakov O. M. and Polgar A. A. Pathology of the synaptic apparatus of the muscle, M., 1974; Myopathies, ed. S. Bozhinova et al., trans. from Bulgarian, Sofia, 1977, bibliogr.; Hereditary diseases of the neuromuscular system, ed. L. O. Badalyan, M., 1974; Adams R. Diseases of muscle, NY, 1975; Bethlem J. Muscle pathology, Amsterdam -L., 1970; Dubowitz Y. a. Brooke MH Muscle biopsy, a modern approach, L., 1973; Mair WGP a. Tome FMS Atlas of the ultrastructure of diseased human muscle, Edinburgh - L., 1972; New developments in electromyography and clinical neurophysiology, ed. by JE Desmedt, v. 1-3, Basel, 1973.
L. O. Badalyan, T. N. Kopieva (pat. an.).
Etiology and pathogenesis of myopathies
The development of myopathy is most often due to hereditary causes. The genetic types of this disease have different forms, which are characterized by certain types of inheritance. An important role in the etiology of myopathies is played by acute and chronic infections, injuries and injuries, nutritional dystrophies and other unfavorable environmental factors. Experts also point to overexertion, which can cause the development of myopathy in people predisposed to it due to heredity.
Thus, almost any unfavorable factor in human life can become an impetus for the manifestation and development of myopathies. The nature of the predisposition of some patients to the development of myopathies was made possible by biochemical and genetic studies. It is known for sure that patients have metabolic defects caused by heredity. They provoke dysfunction of certain enzymes, which causes a lack of aldolase, transaminase, creatine phosphokinase and other vital substances in the blood serum.
In the pathogenesis of myopathies, in addition to genetic metabolic abnormalities of varying degrees, a violation of the sympathetic innervation of muscles has been identified. The lesion affects mainly the proximal arms and legs, where it is richer than in other areas. The central autonomic apparatus of the diencephalic level also suffers from myopathies. This is manifested by a violation of some centrally conditioned autonomic reflexes.
Neuropsychological development of children with neuromuscular pathology
The muscles contain a huge number of receptors that transmit information about muscle function to the brain. The flow of impulses from these receptors enters the brain and participates in the formation of higher cortical functions, such as writing, reading, counting, and logic. With myopathy and amyotrophy, these receptors do not provide proper impulses, which reduces the rate of development of the child’s intelligence.
Therefore, our clinic pays great attention to exercises for the development of intelligence. Regular classes over a long period of time are required, so a child psychologist teaches the parents of our little patients how to independently conduct developmental activities.
Treatment of myopathy and amyotrophy - medications
Medicines do not cure muscle dystrophy, but they can stimulate the regeneration and growth of muscle tissue. Basically, medications have three effects:
- Improve muscle nutrition (L-carnitine, vitamins, alpha-lipoic acid, amino acids, vasoactive drugs, biostimulants);
- Stimulate muscle growth (anabolic steroids);
- Reduce damage to muscle cell membranes (antioxidants).
Goals of drug treatment:
- Increased muscle performance by increasing the number of healthy muscle fibers and reducing fatigue;
- Increasing the resistance of muscle tissue cells to damage (it has been established, for example, that the cause of Duchenne and Becker myopathies is a genetically determined defect in the membranes of muscle cells).
There is no universal prescription for drug treatment for myopathy and amyotrophy. Treatment must be selected based on age, gender, type of myopathy, and the presence of concomitant diseases. The duration of the course is at least three months.
Massage for myopathy and amyotrophy
Standard massage techniques are not entirely suitable for the treatment of myopathy and amyotrophy. In addition, the effect of massage directly depends on the correctness of its implementation. Unfortunately, we regularly see patients after a course of massage with problematic muscles that are completely untreated during massage.
Proper massage begins with identifying inelastic, tight, weakened muscle areas. It is on these areas that the main efforts should be directed during massage. Moreover, a combination of a tonic massage on weakened areas with a relaxing, stretching and absorbing massage on tight areas of muscles is required .
If there is weakness of the respiratory muscles, chest massage is performed to facilitate breathing movements.
We perform massage in the clinic and teach patients’ relatives how to perform massage independently at home. If the patient is undergoing treatment without an accompanying person, we teach self-massage.
