1Causes, symptoms and treatment of various forms of myopathy
- 1.1Causes of development of the disorder
- 1.2Inflammatory disorders
- 1.3Manifestations of a dangerous disease
- 1.4Diagnostic criteria and methods
- 1.5Treatment of the disease depending on its shape
- 1.6Prognosis and prevention
2Features of the development and treatment of Duchenne myopathy
- 2.1Why there is a pathology?
- 2.2How does the disease manifest itself?
- 2.3What is the danger of pathology?
- 2.4What are the methods of diagnosis?
- 2.5How is the pathology treated?
3Duchenne myopathy: photos, causes, symptoms, diagnosis, treatment and prevention
- 3.2Symptoms of the disease
- 3.4Duchenne myopathy treatment
- 4.1Etiology and pathogenesis of myopathies
- 4.2Symptoms of myopathies
- 4.3Diagnosis of myopathies
- 4.4Treatment of myopathies
- 4.5Prognosis and prophylaxis of myopathies
- 5What is Duchenne muscular dystrophy?
Causes, symptoms and treatment of various forms of myopathy
Myopathy is a degenerative disease of the muscle fibers, caused by genetic factors. At the heart of the disease is a progressive atrophy of the musculature, leading to primary muscular dystrophy.
In addition to the fact that the disease is inherited, it can be obtained as a result of infection or trauma (secondary myopathy). But most often the disease occurs in the representatives of one family.
Primary myopathy develops in childhood. Under the influence of unfavorable factors (physical exhaustion, acute or chronic infectious diseases, poisoning) the symptoms of pathology are aggravated.
Secondary myopathies are registered much less often, they are a consequence of dysfunction of the vegetative and endocrine systems.
In addition, there are myopathies:
- proximal- the muscles of the limbs that are closer to the body are affected;
- distal- the muscles distanced from the body suffer;
- mixed type- proximal and distal at the same time.
Causes of development of the disorder
Primary myopathies appear by themselves and do not depend on other ailments. As a rule, they are hereditary in nature and can be obtained at birth. The newborn with myopathy weakly screams, is characterized by lethargic movements, and sucks badly.
Hereditary myopathy can develop in early childhood (from 3 to 10 years) and adolescence. Any primary forms develop due to a genetic or hereditary defect and have a severe course.
Secondary forms of the disease can be provoked by some ailment, that is, it is its consequence. More often it is hormonal disorders, for example, thyrotoxicosis - an excessive synthesis of thyroid hormones.
The development of the disorder is facilitated by systemic diseases of connective tissue, for example, scleroderma - a disease characterized by a failure of collagen production.
Classification of various forms of myopathy is carried out depending on the group of muscles in which the lesion has occurred. In addition, myopathies are divided into inflammatory and congenital.
Inflammatory myopathies refer to acquired heterogeneous muscle diseases. For them, the inflammatory process occurring in the striated muscle is typical. With such a disease, the inflammation is infectious or autoimmune.
Inflammatory myopathy has characteristic symptoms
- pain and weakness in the muscles;
- presence of contractures;
- muscular atrophy;
- muscle swelling;
- decreased motor activity;
- sometimes there is a tightening of the muscle tissue.
A group of inflammatory myopathies includes systemic and local lesions of the musculature:
- myositis with inclusions;
- myositis eosinophilic;
- pseudothrombophlebitis of the calf muscles;
- myositis of the eye muscles.
Classification and varieties of the disease
The main types of myopathies:
- MyopathyDuchenne- the disease usually begins at the age of three, and only in boys. This is the most dangerous form of pathology. First of all, the gluteal and hip muscles are affected. The child can not independently climb the steps of the stairs, get up from the chair, jump. Deformations of bones develop, the muscles of the calves are pseudohypertrophic, sometimes endocrine dysfunction occurs and mental retardation is observed. In addition, the heart and the respiratory muscles are affected. The death of patients occurs as a result of pneumonia.
- DiseaseBecker, as a rule, appears after 20 years. This is an easier form of the disease, which affects the muscles of the pelvis, hips, hypertrophy of the gastrocnemius muscles. Mental abnormalities in this disease is not observed.
- MyopathyErba(juvenile form) affects people of both sexes after 20-30 years. At first, atrophy appears in the pelvic muscles, gradually they spread to the trunk, which leads to a curvature of the spine. The gait of the patient becomes overwhelming, and the shoulder blades resemble wings. Atrophy of the facial muscles (around the mouth). With Erb's myopathy, pseudohypertrophy is very rare. If the disease began early, it leads to immobilization. An easier course is observed in those patients who fell ill in adulthood.
- DiseaseThe Landuzi-Dejerine- the humeropathy-facial form of myopathy also affects representatives of both sexes. This ailment appears in adolescence and a very young age (10-20 years). First of all, the muscles of the face atrophy, a little later the defeat extends to the shoulder and pectoral muscles. Because of the defeat of the circular muscles of the eye, the patients sleep with their eyes open. Lips are hypertrophied, facial expressions become depleted, but the patient's mental capabilities do not suffer. The disease proceeds slowly and does not affect life expectancy.
- MyopathyKugelberg-Welanderabegins at the age of two to fifteen years. First, there is a weakness in the muscles of the proximal parts of the lower limbs and pelvis, which gradually builds up. The hands of this disease are rarely affected. It is difficult for a patient to climb the stairs and get up from a sitting position. Sometimes there is an imbalance in walking, even falls are possible. The gait resembles a duck.
- DiseaseCharcot-Marieoccurs mainly at the age of 15-30 years, and more often men are ill. The mutation in the muscle tissue has a neurological basis. Affected individual groups of leg muscles, until the complete destruction of tissue (in the late period of the disease). Significant changes are also taking place in the spinal cord. Patients can not stand in one place, from the side their behavior looks restless.
Manifestations of a dangerous disease
The disease has a number of clinical symptoms, but the main sign of myopathy is the pathological weakness of a certain group of muscles.
Physicians identify the following symptoms of myopathy:
- gradually developinglethargy(muscular dystrophy is expressed by a symmetrical character);
- weakness noted in the proximal parts of the limbs(Against this background, simple actions such as climbing stairs or combing represent an unbearable task for the patient);
- in the legs and handsno paresthesia;
- the functioning of the pelvic organs is not impaired;
- with muscle weaknesspain is not observed;
- sometimes ariseconvulsions.
The sensitivity of the limbs is not disturbed, which is an essential difference between myopathy and neuropathy.
Diagnostic criteria and methods
At the first reception the doctor interrogates the patient and analyzes the anamnesis. The patient tells the doctor:
- when the first symptoms of pathology appeared;
- in which muscle groups there was weakness;
- how the disease affects the entire body;
- what was his health as a child;
- whether there were similar diseases in close relatives.
After this, the doctor performs an examination of the patient, during which the following factors are identified:
- degree of severity of muscle weakness;
- muscle tone;
- presence of atrophy;
- Are reflexes of the limbs present?
- whether there is a curvature of the spine.
With myopathy, gait always changes in patients, which is also taken into account in the diagnosis.
Laboratory tests include a blood test for thyroid hormones and a level of creatine kinase. A biopsy of muscle tissue is performed, which is then examined under a microscope. Genetic examination of the patient's family is also necessary for proper diagnosis.
Treatment of the disease depending on its shape
Inflammatory myopathies are treated with a course of glucocorticosteroids. The dose of Prednisolone per day is 80-100 mg. If the effect of the treatment becomes noticeable (muscle appears in the muscles), the dose is gradually reduced to a maintenance dose of 15 mg / day.
In complicated cases, inflammatory myopathy requires methylprednisolone pulse therapy. Treatment with hormonal drugs has many side effects, so glucocorticosteroids are contraindicated for some patients.
If there is no positive dynamics during 3 months of treatment with glucocorticosteroids, then myopathy has acquired steroid resistance. In this case, the patient is prescribed cytostatics:
The treatment of Sharko-Marie's myopathy is symptomatic. The patient is prescribed vitamins, B group, ATP, anticholinesterase medications, physiotherapy sessions, blood transfusions, exercise therapy, massage. Therapy is repeated courses.
If the patient has hanging feet, he should wear orthopedic shoes. In severe cases, a tenotomy is indicated. In this disease, the patient's professional activity should not be associated with heavy workloads.
Treatment of Duchenne myopathy is usually ineffective, due to the rapid progression of the disease and its high severity.
The patient is prescribed maintenance therapy, which softens the symptoms and slows the development of the disease a little. These are drugs to improve metabolism:
- amino acids;
- vitamins B, E;
- Potassium orotate;
- anabolic hormones;
- calcium preparations;
Treatment should take courses and in a hospital. The use of drugs of the group of glucocorticoids for several years prolongs the patient's life.
Prognosis and prevention
In primary myopathies, the prognosis is rather unfavorable. Worst of all, the situation with infant forms of disease, which begin with the first weeks of the birth of a child. These children die very early.
A more favorable outcome is observed in cases when the disease appeared much later. However, the course of the disease depends on how extensive the lesion is and whether other vital organs (kidneys, liver, heart) are involved in the pathological process.
Quite favorable prognosis in myopathies acquired, as the identification of the cause and its elimination leads to a regression of pathology..
Prevention of primary forms of the disease consists in a medical-genetic examination of a married couple before conception of the child and in the first weeks of pregnancy..
To prevent the development of secondary myopathy it is necessary to adhere to a healthy lifestyle:
- regular exercise;
- massage the whole body and certain parts of it;
- wiping the body with a towel soaked in cold water (3 times a day);
- rejection of bad habits;
- proper nutrition;
- reception of powders from chalk and burnt bones.
A source: http://neurodoc.ru/bolezni/myshechnye/miopatiya.html
Features of the development and treatment of Duchenne myopathy
Duchenne myopathy is one of the most severe forms of primary muscular dystrophy. This is a congenital disease.
It manifests itself in early childhood, characterized by a tendency to rapid progression and in most cases leads to a fatal outcome even before the patient reaches the age of 25 years.
A distinctive feature of the pathology is that it is mainly affected by boys, and girls, with rare exceptions, are only carriers of a defective gene that is transmitted hereditary path.
Why there is a pathology?
The presented type of muscular dystrophy is a hereditary disease that arises and develops due to the action of the so-called Duchenne gene. Specialists identify the following reasons, which can provoke the appearance of this pathology:
- Genetic factor.
- Marriages between close relatives.
- Inheritance of the disease on the maternal line (observed in most cases).
- The consequence of the so-called new mutation (occurs quite rarely, in about 30% of cases).
- Structural chromosomal abnormality.
- Global lesion of a special gene responsible for the production of protein (dystrophin).
- Pathology of biochemical processes.
- Violation of the production of enzymes in the human body.
- Replacement of muscle fibers with fatty or connective tissues.
How does the disease manifest itself?
The first signs of progressive muscular dystrophy of Duchesne appear already in the earliest childhood and become noticeable when the child reaches a year and a half.
Babies, afflicted with this disease, lag far behind in psychomotor development from their peers. For a long time they can not stand on their own feet, much later the rest of the children begin to crawl, get up and sit down.
A patient with muscular dystrophy rarely begins to walk to the prescribed time, and subsequently often falls and moves with great difficulty.
A typical sign is the constant support (leaning) on the hands when the child attempts to rise from his place. In addition, for this type of pathology, the following symptoms are characteristic:
- Necrosis of fibers.
- Rebirth and replacement of muscle tissue.
- Symmetrical muscle atrophy.
- Pseudohypertrophy of gastrocnemius muscles, accompanied by an increase in connective tissue and fatty deposits.
- Pathological fatigue during exercise.
- Development of lordosis.
- Decrease in the general tone of the proximal muscle groups.
- Change and gradual disappearance of muscle reflexes.
- Development of concomitant cardiovascular diseases.
- Defeat of the distal musculature (manifested in the late stages of the disease).
- Violations of the neuroendocrine nature.
- Deformation of the spinal column.
- Manifestation of the Itenko-Cushing syndrome.
- Pathological deformities of the feet and chest area. Instability of gait.
- Adiposo-genital dystrophy.
- Narrowing in the medullary canal.
- Mental disorders.
- Loss of tendon reflexes.
- Oligophrenia and delayed speech development.
- Violation of coordination of movements.
- The development of the so-called "duck" gait and joint contractures.
- Cardiomyopathy and cardiac dystrophy.
- Disturbances of motility of the gastrointestinal tract.
- Scoliosis and bone deformities.
- Vegetative disorders and defeat of the respiratory muscles.
- Development of endocrine diseases.
Strongly expressed in Duchenne myopathy, symptoms in the form of intellectual disorders and lesions of the patient's internal organs manifest somewhat later pathological muscle signs. In most cases, this occurs when the child reaches 8 - 10 years.
What is the danger of pathology?
Duchenne's progressive dystrophy is considered one of the most serious and dangerous types of pathologies. The disease develops gradually.
In the first place, atrophy of the gluteal and hip muscle groups occurs. The child is difficult to get up, go up the stairs, the functions of the musculoskeletal system are markedly limited.
Gradually, the muscle groups of the upper part of the body are atrophied, and then all the other muscles.
Closer to the age of 5, pseudohypertrophy of calves develops: they seem disproportionately increased due to accumulation of fatty deposits and intensive proliferation of connective tissues.
The child suffers from pathological fatigue with minimal physical exertion, muscle weakness develops, which does not pass even at rest.
Bony deformities, characteristic of this type of myopathy, lead to external changes: the appearance of the so-called aspen waist and pterygoid scapula.
Duchenne's myopathy is developing rapidly: by the age of 10 a small patient is turning into a complete disabled person, unable to move independently..
Also, there are delays in mental development, manifested in imbecility or morbidity, characteristic of oligophrenia..
However, the main danger of Duchenne myopathy is associated with pathological processes occurring in internal organs. First of all, the cardiovascular and respiratory systems are affected.
It is complications in the form of pneumonia, heart failure, respiratory system diseases, etc. cause the death of the patient.
What are the methods of diagnosis?
In addition to studying the general clinical picture and characteristic symptoms, a number of studies are assigned to the patient for diagnosing progressive Dystrophy. These include the following procedures:
- Electromyography, which allows to determine the speed indicators of nerve impulses in muscle groups.
- An extensive blood test to identify biochemical parameters, in particular the level of the enzyme creatine phosphokinase, significantly increased in the case of myopathy.
- Muscle biopsy.
- Magnetic resonance tomography.
- Special genetic testing.
It should be emphasized that timely diagnosis provides an opportunity to identify the defective Duchenne gene in the body and begin treatment, which will avoid a number of serious complications and significantly improve the quality of life of a small patient.
How is the pathology treated?
In most cases, the following therapies are used to treat Duchenne myopathy:
- Orthopedic intervention.
- Drug treatment, consisting in the intake of prednisolone, which contributes to the increase of muscle mass and significantly slows the development of pathology. In addition, patients with this diagnosis show anabolics: Prozerin, Potassium orotate, Galantamine, calcium preparations, various amino acids, and glucocorticosteroids.
- Use of special orthopedic prostheses.
- Gene therapy, which is an artificial introduction into the patient's body of two kinds of genes: uterine and dystrophin.
- In some cases, with the development of contractures, as well as for fixing joints, surgical treatment is used.
- Vitamin therapy.
In addition, it is very important to provide the child with proper nutrition.
The daily diet of a small patient must necessarily include fresh vegetables and fruits, eggs, honey, cereals, dairy products, rich in calcium.
But tea, coffee, spices, sweets, spicy and fatty food to patients suffering from muscle pathologies are categorically contraindicated.
Duchenne's myopathy is a severe muscle pathology, often leading to the death of a patient at a young age. However, thanks to the achievements of modern medicine with timely competent treatment, it is possible to avoid a number of complications and significantly increase the life expectancy of the patient.
A source: http://NervZdorov.ru/sistema/miopatiya-dyushena.html
Duchenne myopathy: photos, causes, symptoms, diagnosis, treatment and prevention
One of the most formidable primary muscular dystrophies that begins in early childhood and leads to death before reaching patients 25 years of age, is Duchenne myopathy (full name - progressive muscular dystrophy Duchesne).
The disease was first described in 1868 by Duchenne (Duchenne) and is genetic. And Duchenne's myopathy has a common, genetically uniform form with Becker's myopathy, but it has a number of clinical signs.
There is a disease in one of the , 00 newborn boys and is found at the age of -3 and progresses rapidly.
Usually patients do not survive even before the age of 30 (according to some data, and do many die at the age of 20-22 years).
The spreading process of muscle malnutrition is characterized by an ascending character:
- First, the muscles of the pelvic girdle, as well as the muscles of the proximal parts of the legs (lower limbs) are involved in the process,
- Then the muscles of the back and shoulder girdle suffer,
- After this, the turn reaches the proximal parts of the hands (upper limbs).
Already at the very beginning of the disease, knee reflexes fade or decrease significantly, while the tendon reflexes of the hands and the Achilles reflex persist for a very long time.
Other signs of this disease:
- Progression of kyphosis, lordosis or other secondary deformities of the spine,
- Curvature of the chest (it becomes a keel or saddle), stop,
- Developments of retractions of tendons against contractures in the joints.
- Very often, with Duchenne myopathy, there are heart problems, namely cardiomyopathy, the symptoms of which are arrhythmia and left ventricular hypertrophy.
- Although usually with myopathies the intellect does not suffer, in this case, 25-30% of patients have oligophrenia (namely, the degree of debility). The remaining patients retain their intellect.
The prognosis of the disease is unfavorable - Duchenne's myodystrophy is rapidly progressing, patients lose their ability to walk independently after 10-12 years, and die at a young age due to intercurrent infections (respiratory failure) or from the cardiac insufficiency.
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Photo of Duchesne's myopathy:
Duchenne's myopathy is a hereditary disease, and the carriers of his gene are female.
This myopathy is inherited from the recessive type linked to the X chromosome. Moreover, about a third of all cases of Duchenne myopathy are caused by new gene mutations.
Only boys are ill.
Of all the diversity of myopia, this is the most malignant and rapidly progressing.
Although Duchesne's myopathy is a hereditary disease, in 30% of cases the cause is a gene mutation.
Symptoms of the disease
The disease begins to appear at the age of -5 years, its first signs are:
- Instability, motor awkwardness.
- Constant stumbling and falling during walking, which develops a child's fear of walking, which is responsible for motor passivity.
- The child is difficult to climb the stairs, and the gait becomes waddling, "duck".
- It is also difficult to rise from a prone or sitting position - the child resorts to the so-called "Grover's methods" - this is "self-climbing" and "climbing ladder".
- A vivid sign of Duchenne's myopathy is an imaginary hypertrophy of muscles, especially of the calves: in fact, there is no development of muscles, but their degeneration into fatty and connective tissues.
- As already mentioned, one of the symptoms of Duchenne myopathy is heart damage, which, according to foreign researchers, is caused by a deficiency in dystrophin cardiomyocytes.
- There are signs of myopathy in the biopsies of the skeletal muscles.
- Over time, as the progression of muscular dystrophy develops contractures of large joints, there is an equinovarus deformation of the foot.
- Closer to 10-12 years the child can no longer move independently and is forced to use a wheelchair.
- By the age of 15, a deep disability of the patient develops.
The diagnosis of Duchenne's myodystrophy is based on the following examination results and analyzes:
- On the ECG, the lesion of the myocardium of the lateral and posterior-lower walls of the left ventricle is detected, which is determined by the following indicators: a high prong is observed in lead V6; a deep Q tooth is observed in the leads V6, aVF, 2 and 3.
- Also, the content of dystrophin in muscle tissue is investigated (with this disease, dystrophy is not detected).
- In the course of biochemical studies in the blood plasma, the activity of CKK (creatine phosphokinase enzyme) is determined, which is usually significantly increased (including in the carriers of the gene). Sometimes, to clarify the source, isoenzymes of CK are investigated.
- Genodiagnostics is also performed.
- Fibrillations on EMG report necrosis of muscle fibers.
- Muscle biopsy is one of the main methods of diagnosis of Duchenne myopathy, and is selected moderately the affected muscle, since a very weakened and significantly damaged muscle will turn out to be uninformative.
The most reliable are the assays for serum activity of muscle enzymes, muscle biopsy and EMG (electromyography).
Duchenne myopathy treatment
With such a severe and rapidly progressing disease, treatment is ineffective, usually the following drugs are used in complex maintenance therapy:
- Group of drugs that improve metabolism in the body: vitamins B, E, amino acids, calcium preparations, anabolic hormones, potassium orotate.
- The treatment with proserin, galantamine, oxazilum is used.
- Treatment is conducted in courses and, preferably, in a hospital: exercise therapy (especially slowing the formation of contractures), so the same as passive stretching of diseased muscles, massage, proserine electrophoresis, lidase, calcium chloride, baths, inductothermy. The course of treatment is repeated every 6-8 weeks, and immobile children are preferable to treat at home.
- Last years the treatment with glucocorticoids (according to the scheme in a day) became popular, which prolongs life for several more years.
A patient with Duchenne myopathy must necessarily be observed with a cardiologist.
Separately, it is worth noting the importance of adequate nutrition, in which vegetable fats and proteins of animal origin must be present.
It is necessary to avoid strong tea, coffee, alcohol, spices, sugar, cabbage and potatoes.
The diet should include fresh or cooked vegetables, fruits, sour-milk products, oatmeal, eggs, honey, carrots, nuts.
Preventive maintenance of disease is complicated in view of the genetic reasons of its or his occurrence, that is why especially an important role is played by genetic counseling of those families in which a burdened heredity.
The newest methods and developments of molecular genetics help to reliably determine the nature of gene mutation, "calculate" the forecast his disease, but most importantly - such methods allow perinatal examination in the case of repeated pregnancy.
A source: http://gidmed.com/bolezni-nevrologii/nevralgija/miopatiya-dyushena.html
Myopathies belong to the group of neuromuscular diseases.
They are characterized by a dystrophic lesion of the muscular tissue (mainly skeletal musculature) with selective atrophy of individual fibers (myofibrils) with complete functional preservation of the animal's nervous system. They are characterized by a chronic, steadily progressing course. As a rule, the manifestation of the clinical manifestations of myopathy occurs in children and adolescents. Most of the cases of the disease is genetic pathology - these are the so-called primary myopathies. Less common are myopathies of acquired genesis - secondary or symptomatic.
Etiology and pathogenesis of myopathies
At the heart of primary myopathies lie genetically determined violations in the functioning of mitochondria and ion channels of myofibrils, in the synthesis of muscle proteins or enzymes that regulate the metabolism of muscle tissue.
The inheritance of a defective gene can occur recessively, dominantly and is linked to the X chromosome. In this case, external factors often act as triggers, triggering the development of the disease.
Such "trigger" factors can be a variety of infections (chronic tonsillitis, frequent ARI, bacterial pneumonia, salmonellosis, pyelonephritis, etc.)
), alimentary dystrophy, severe trauma (fracture of pelvic bones, polytrauma, TBI, etc.), physical overstrain, intoxication.
Acquired myopathies can develop against a background of endocrine disorders (hyperparathyroidism, Itenko-Cushing's disease, hypothyroidism, hyperthyroidism, hyperaldosteronism), chronic intoxications (substance abuse, drug addiction, alcoholism, occupational hazards), malabsorption and avitaminosis, severe chronic diseases (CRF, chronic hepatic insufficiency, heart failure, COPD), tumor processes.
The presence of genetically determined or acquired defects of metabolites involved in metabolism and the construction of muscle fibers, leads to the emergence and progression of degenerative changes the latter.
The atrophy of myofibrils develops, their replacement with fat and connective tissue occurs. Muscles lose the ability to contract, which causes muscle weakness and limited ability to perform active movements.
Recent studies have revealed in patients with various forms of myopathies the dysfunction of both central diencephalic level) and the peripheral parts of the autonomic nervous system, which play an important role in pathogenesis disease. This can explain the typical for myopathies primary lesion of the proximal parts of the extremities that have a richer vegetative innervation.
Specialists in the field of neurology have developed several classifications of myopathies.
The most popular among clinicians was the etiopathogenetic principle of separation, according to which distinguish hereditary, inflammatory, metabolic, membranous, paraneoplastic and toxic myopathy.
Among the hereditary myopathies, the most common are 3 species: the juvenile / juvenile form of Erba, the pseudohypertrophic form of Duchesne and the shoulder-lobular-facial form.
Less common are the scapuloperoneal, oculopharyngeal, distal, and others. form. Separate group are congenital myopathies: central stem disease, non-melanoma and myotubular myopathy, disproportion of types of myofibrils..
Inflammatory myopathies are classified as infectious - arising from infectious-inflammatory lesions of muscle tissue at various infectious processes: bacterial (streptococcal infection), viral (enterovirus, influenza, rubella, HIV), parasitic (trichinosis, toxoplasmosis) and idiopathic - dermatomyositis, myositis with inclusions, polymyositis, myopathies with Sjogren's syndrome, SLE, scleroderma, and others. collagenoses..
Metabolic myopathies are divided into those associated with a violation of lipid metabolism in muscles (insufficiency of acetyl-CoA dehydrogenase, deficiency of carnitine), glycogen exchange (Andersen's disease, Pompe disease, type III glycogenosis, Mc-Ardl's disease, kinase phosphorylase deficiency b, phosphoglyceromutase deficiency), purine metabolism (MDAA enzyme deficiency) and mitochondrial myopathies (deficiency of reductase, ATP, cytochrome b, b1).
Symptoms of myopathies
Most myopathies have a gradual onset with the appearance of a slight muscle weakness in the limbs, a more rapid onset of fatigue from walking and other physical exertion.
Within a few years, weakness develops, muscle atrophies appear and progress, limb deformities occur.
Because of significant muscle weakness, patients with difficulty rise from the floor and walk the stairs, can not jump and run. In order to get up from the chair, they have to use special tricks.
Characterized by the type of patient: pterygoid spaced shoulder blades, lowered shoulders, bulging forward abdomen and strengthened lumbar lordosis. There is a "duck" gait - the patient moves, swaying to the sides.
Pathological changes in myopathies occur symmetrically in the muscles of the limbs and trunk. As a rule, muscular atrophy is observed in the proximal parts of the arms and legs.
In this regard, the muscles of the distal limbs can look hypertrophied. Such myopathic pseudohyperrophy is most noticeable in the muscles of the legs..
Along with the increase in muscle weakness, there is a gradual extinction of tendon reflexes and a progressive decrease in muscle tone, i.e., develops and aggravated peripheral flaccid paralysis..
Over time, the result of a sharp restriction of active movements are joint contractures.
Myopathies can be accompanied by defeat of facial muscles, which is manifested by the inability to stretch the lips with a tube, whistle, frown or smile. The defeat of the circular muscle of the mouth leads to the appearance of a dysarthria, associated with the difficulty of pronouncing vowel sounds.
The clinic of some myopathies involves the defeat of the respiratory muscles, leading to the onset of congestive pneumonia and the development of respiratory failure.
Possible pathological changes in the heart muscle with the occurrence of cardiomyopathy and heart failure, the muscles of the pharynx and larynx with the development of dysphagia and myopathic paresis of the larynx.
Juvenile myopathy of Erbais inherited autosomally-recessively. Pathological processes begin to manifest at the age of 20-30 years. First of all, they cover the muscles of the pelvic girdle and thighs, then quickly spread to other muscle groups.
Involving the facial muscles is not typical. The onset of myopathy at a younger age leads to early immobility of patients. With the development of the disease in the elderly, its course is less severe: patients retain their ability to move for a long time.
Pseudohypertrophic myocardium DuchesneInherited is recessively linked to the sex. Only boys are ill. As a rule, it manifests during the first 3 years of life, less often - in the period from 5 to 10 years.
Typically, the onset of atrophic changes in the muscles of the pelvic girdle and proximal legs, accompanied by pseudohypertrophy of the calf muscles.
Early emergence of contractures and curvature of the spine (kyphosis, scoliosis, hyperlordosis). There may be oligophrenia.
The disease occurs with the defeat of the respiratory muscles and heart (cardiomyopathy is noted in 90% of patients with Duchenne myopathy), which is the cause of an early lethal outcome.
Shoulder-scapular-facial myopathy of the Landusi-Dejerinehas autosomal dominant inheritance. Manifests in 10-20 years from the defeat of facial muscles..
Gradually, weakness and atrophy cover the muscles of the shoulders, shoulders and chest. The muscles of the pelvic girdle usually do not suffer..
Characteristically slow flow with a long-term preservation of efficiency, without reducing life expectancy.
Scapuloperoneal myopathy- autosomal dominant disease. Its peculiarity is the development of atrophies in the muscles of the distal parts of the legs and proximal parts hands, as well as the presence of light sensory disorders of the distal departments of both lower and upper extremities.
Oculopharyngeal myopathycharacterized by a combination of defeat oculomotor muscles with weakness of the muscles of the tongue and pharynx.
Usually manifests by bilateral ptosis, then swallowing disorders are attached.
A feature of this myopathy is its late onset - on the 4th-6th decade of life.
Distal late myopathyinherited autosomal dominant. It is characterized by the development of weakness and atrophy in the distal parts of the limbs: first in the feet and hands, and then in the legs and forearms. Characteristically slow flow.
Features of clinical manifestations of various forms of congenital, hereditary and metabolic myopathies are described in separate reviews.
Diagnosis of myopathies
To establish the diagnosis of myopathy the neurologist is helped by electrophysiological examination methods: electroneurography (ENG) and electromyography (EMG).
They allow to exclude defeat of the peripheral motor neuron and, thus, differentiate myopathy from infectious myelopathy, disorders of cerebrospinal circulation, myelitis and tumors of the dorsal the brain.
EMG data indicate changes in muscle potentials characteristic of myopathies - a decrease in their amplitude and a reduction in duration. The progress of the process is indicated by the presence of a large number of short peaks.
Biochemical analysis of blood in myopathy shows an increase in the content of aldolase, CK, ALT, AST, LDH, etc. enzymes. In the biochemical analysis of urine, an increase in the concentration of creatinine is indicative.
In establishing the form of myopathy, biopsy of muscles is of paramount importance.
Morphological examination of muscle tissue samples reveals the presence of randomly scattered atrophied myofibers among practically preserved and hypertrophied muscle fibers, as well as the replacement of muscle tissue sites with a connective or fatty. The final diagnosis is possible only after comparing the results of histochemical, immunobiochemical and molecular-genetic studies.
In order to diagnose lesions of the heart muscle, a patient with myopathy can be assigned a consultation cardiologist, ECG, ultrasound of the heart; if there is a suspicion of pneumonia, consult a pulmonologist and radiography of the lungs.
Treatment of myopathies
Currently, the pathogenetic treatment of myopathies is in a state of scientific experiments in the field of genetic engineering.
In clinical practice, symptomatic therapy is used, consisting mainly in improving the metabolism of muscle tissue.
To this end, apply vitamins E, B1, B6, B12, ATP, neostigmine, amino acids (glutamic acid, hydrolyzate from the brain of a pig), anticholinesterase drugs (ambenonium, galantamine), anabolic steroids (nandrolone decanoate, methandienone), potassium and calcium preparations, thiamine pyrophosphate. Combinations of several drugs prescribe course 1 months. 3 times a year..
Medical treatment of myopathies is supplemented with physiotherapy (electrophoresis with neostigmine, iontophoresis with calcium, ultrasound), light massage and exercise therapy. The exercise of exercise therapy can be carried out in the pool..
The complex of exercises should be chosen in such a way as to avoid overloading the weakened muscles.
In some cases, patients need orthopedic consultation and selection of orthopedic correction (corsets, shoes).
The basis of treatment of acquired forms of myopathies is the therapy of the underlying disease: correction of endocrine disorders, elimination of toxic exposure and detoxification of the body, elimination of the infectious process, transfer of a chronic disease to the stage of stable remission, e.
Prognosis and prophylaxis of myopathies
The most unfavorable in the prognostic plan are hereditary myopathies, manifested in early childhood.
In the rest the forecast depends on the form of myopathy, involvement in the process of the heart and respiratory muscles.
The prognosis of secondary myopathies is more favorable, provided the treatment of the underlying disease is successfully treated.
Prevention of primary myopathies is the careful collection of a family history and compulsory counseling in a geneticist for couples planning a pregnancy.
Prevention of secondary myopathies is the elimination of toxic effects on the body, timely treatment of infectious and endocrine diseases, correction of metabolic disorders.
A source: http://www.krasotaimedicina.ru/diseases/zabolevanija_neurology/myopathy
What is Duchenne muscular dystrophy?
Duchenne's muscular dystrophy is a genetic pathology associated with impaired development of soft tissues. In the late stages of the disease, they are completely destroyed, which causes the patient to lose the ability to perform any movements.
Duchenne syndrome is found exclusively in men, women are only carriers of the damaged gene, transferring it to their sons. The disease is accompanied by a violation of the functions of internal organs, endocrine and neurological disorders.
Complete recovery is impossible, only schemes of palliative therapy have been developed. Patients rarely live up to 30 years. Syndrome Duchenne is not considered a rare pathology, the risk of its occurrence is estimated as: 500.
This is the most common form of muscular dystrophy.
The risk of development of pathology is associated with damage to the sex X chromosome, responsible for the production of dystrophin protein, which is part of the muscle fibers. It provides the ability of the muscles to contract and maintains the required cell division rate.
With Duchenne's syndrome, it can be produced defective or absent altogether. The level of unchanged dystrophin does not exceed 3%. Muscles are gradually replaced by fatty and fibrous tissues. Naturally, the movements in this case become impossible.
Inheritance of pathology occurs according to the recessive type. Since human genes duplicate each other, the appearance of the disease contributes to damage that occurs in one chromosome or similar departments of paired ones.
Recessive is the type of inheritance, in which the appearance of a disease requires the presence of defects in one chromosome. That is why the disease is found only in males..
If they inherit from the mother a defective X chromosome, they will develop a disease..
Symptoms of Duchenne muscular dystrophy almost always appear at an early age. Most often they are found in children of the first year of life.
All pathological changes occurring in the body in this disease are divided into several groups: destruction Skeletal muscles, spinal deformity, neurological disorders, endocrine disorders, cardiac and respiratory insufficiency.
Myopathy is the main symptom of Duchenne syndrome. It causes the development of general weakness. In the early stages, the symptoms of the disease are poorly expressed. A child without visible defects is born.
However, over time it becomes apparent that his physical development lags far behind the age norms.
The child is characterized by reduced motor activity, at an early age many parents do not consider this a sign of the disease, writing off everything on the characteristics of the baby's character. Obvious signs of myopathy appear at the end of the first year of life.
At attempts to make a step the child falls, it moves on носочках and can not go without support. While most peers are beginning to move confidently, boys with Duchenne's syndrome continue to fall.
Children older than 3 years complain of fatigue and intolerance to physical activity. Jumping, running and other favorite classes of boys do not attract them. To suspect the presence of the disease can be and by violation of the gait, the child goes to the waddle.
The symptom of Hovers is a specific symptom of the disease. It involves the use of hands when trying to climb from one knee to the other. The pathological process extends ascending way.
This means that in the early stages, weakness only covers the lower limbs, gradually spreading to the lumbar, thoracic and cervical divisions. Despite the progressive destruction of muscle fibers, some areas of the body may look normal..
Appears pseudohypertrophy, most often affecting calf, deltoid and gluteal muscles..
Dystrophy is symmetrical. The destruction of fibers leads to the appearance of contractures and shortening of tendons. Reflexes gradually disappear.
Painful pathological process is not accompanied. Most patients become unable to move at the age of 12-13 years. The ability to stand on their feet is lost by the age of 16.
The next stage is the defeat of the respiratory muscles. Weakness of the diaphragm, thoracic and abdominal muscles leads to a decrease in lung capacity and the development of hypoxia.
At night there are attacks of asphyxia, which contributes to the appearance of a feeling of fear before going to sleep.
Dysfunction of the heart is a typical sign of Duchenne's disease. Cardiomyopathy manifests itself in the form of arrhythmia, jumps in blood pressure, dyspnea.
The heart grows in size and ceases to perform most of its inherent functions. Heart failure develops, which is considered the main cause of death.
The lag in mental development is not always observed. It is associated with a deficiency of one of the forms of dystrophin present in the brain..
Mental disorders have varying degrees of severity: from mild debility to idiocy. The severity of intellectual disorders does not depend on the stage of muscular dystrophy..
Endocrine disorders are diagnosed in half of patients with Duchenne syndrome. Most often they manifest themselves in the form of obesity, which increases the volume of the fat layer of the buttock, femoral and thoracic areas.
The patient is characterized by low growth. The disease is constantly progressing, by the time of adulthood, almost all patients become deeply disabled. Associated diseases that reduce life expectancy are added.
Death occurs at the age of 25-30 years.
The detection of the disease involves the use of several methods of examination. The main is a genetic test that detects a chromosome X defect.
When the muscle fibers decay, the activity of creatine phosphokinase increases. In the early stages of Duchenne's syndrome, his level exceeds the norm by a factor of tens. A muscle biopsy is performed to determine the amount of dystrophin.
The emergence of more modern and safe diagnostic methods allowed to abandon this traumatic procedure.
Breathing tests, ECG and ultrasound are not used to establish a definitive diagnosis, but they allow to choose the most effective scheme of palliative therapy.
Duchenne's muscular dystrophy is an incurable disease. Treatment helps to prolong the period of motor activity. Despite this, predictions about the possibility of curing the disease in the future are optimistic..
Drug therapy involves the use of steroid hormones that reduce the severity of muscle weakness. Beta-adrenomimetics temporarily increase muscle strength, but they can not stop the development of the pathological process..
Hormonal therapy is performed at a time when motor skills are not starting to deteriorate. The most commonly used is Prednisolone, which is administered until its effectiveness is lost.
With the progression of muscle weakness, it is gradually canceled.
Non-drug treatment is the use of orthopedic appliances and physiotherapy. They help to maintain joint mobility and muscle strength. Moderate exercise in Duchenne's syndrome is simply necessary. A sedentary lifestyle contributes to the rapid development of the disease.
Regular courses of massage and swimming are useful. Physical activity must be maintained even when there is a need for a wheelchair. When the pathological process spreads to the respiratory muscles, it becomes necessary to connect the patient to the ventilator.
A source: http://spina-health.ru/myshechnaya-distrofiya-dyushenna/