Congenital myopathies are a group of hereditary, usually non-progressive or slowly progressive diseases, usually detected immediately after birth or shortly after it. The term “benign congenital hypotension” was previously used to refer to them. Currently, their names are determined by pathomorphological changes detected by electron microscopy of muscle biopsy. According to the clinical picture, most congenital myopathies are not much different from each other. Signs that the fetus is developing myopathy can be recorded in the prenatal period, in this case expectant mother usually notices that fetal movements are not active enough. After birth, the child usually experiences severe generalized hypotension; congenital myopathies are one of the causes of “floppy baby” syndrome. Muscle weakness usually extends to the pelvic girdle and proximal legs, while the muscles shoulder girdle and hands are affected to a lesser extent. In some cases, generalized muscle weakness is observed. Muscle underdevelopment is often noted. With some congenital myopathies, there may be weakness of the facial and/or extraocular muscles; in the latter case, patients never complain of double vision. Congenital dislocation of the hip, dolichocephalic head shape, Gothic palate, cauda equina, and kyphoscoliosis are often observed.
Delayed motor development is characteristic: children begin to sit, stand up, and walk late, often fall when walking and are practically unable to run. Later they are usually unable to perform simple tasks gymnastic exercises, participate in outdoor games. As a result, the child cannot fully participate in the life of the children's group, and since intelligence is almost always preserved, the motor defect serves as a source of constant emotional stress.
Reflexes may be normal, decreased or absent. CPK levels are usually normal or slightly elevated. EMG, as a rule, reveals short-term low-amplitude polyphasic motor potentials. A biopsy reveals a predominant lesion of tonic “red” fibers (type I) or phasic “white” fibers (type II). The conduction velocity of motor and sensory fibers is normal. Extremely important point is no progression or very slow progression of muscle weakness. Since congenital myopathy is often combined with congenital hip dislocation, it must be excluded in every case of diagnosis of dislocation.
Disease of the central core. It is inherited in an autosomal dominant manner, although there are also sporadic forms. Congenital dislocation of the hip is often noted. Muscle weakness usually does not progress. There is an increased risk of developing malignant hyperthermia during surgery under general anesthesia. This is of great practical importance, since such patients often undergo surgery for dislocation of the hip or cauda equina.
When examining muscle biopsies, in addition to the predominance of type I muscle fibers, abnormal myofibrils (so-called rods) are detected in the fibers themselves, which are located in the center of the fiber, although they can also be noted at the periphery. Most fibers have only one rod, although in some their number reaches 5. Electron microscopy revealed that these rods lack mitochondria and, accordingly, histochemical studies in the rods extending along the entire fiber do not reveal the activity of mitochondrial oxidative enzymes.
Nemaline myopathy. The disease is inherited in an autosomal recessive or autosomal dominant manner, and sporadic cases are also found. In addition to the dolichocephalic shape of the skull, many patients have an elongated face, a Gothic palate, and underdeveloped muscles. Along with weakness of the muscles of the limbs, weakness of the facial muscles is often observed. Muscle weakness progresses in about half of patients. In some patients, immediately after birth, a serious condition may occur associated with weakness of the respiratory muscles, tongue, masticatory and swallowing muscles, manifested by cyanosis, aspiration, respiratory tract infections, and feeding difficulties; Possible fatalities.
Muscle biopsy reveals a predominance of type I muscle fibers. Under the sarcolemma, accumulations of thread-like structures are often detected (Greek peta - thread). Electron microscopy shows that the thread-like structures originate from Z-disks. Sometimes threads are detected in all fibers, sometimes only in some of them. There is no correlation between the number of fibers with threads and the severity of the disease. It should be noted that similar thread-like structures can be detected in other congenital myopathies, as well as in phenotypically healthy heterozygous carriers of the recessive gene.
Cases have been described when the disease manifests itself at a later age with a decrease in muscle strength of the proximal parts, often in the legs, or scapuloperoneal syndrome with a “dropping” foot.
Central nuclear (myotubular) myopathy. Inherited in an autosomal dominant or autosomal recessive manner, sporadic cases are also observed. The facial and extraocular muscles are affected in approximately half of the patients. Muscle biopsy often reveals fibers with centrally located nuclei, in the absence of fibers with a normal arrangement of nuclei under the sarcolemma. Sometimes the fibers lack central myofibrils, causing the fibers to resemble embryonic muscle cells or myotubules (when examined using a light microscope); hence the name “myotubular myopathy”. In some cases, a decrease in the diameter of type I fibers is also observed.
X-linked myotubular myopathy (hypotrophy of type I fibers with central nuclei). It is a separate form of congenital myopathy. The severity of clinical manifestations varies greatly: sometimes the lesion is so severe that the child; dies 1-2 days after birth. During pregnancy, there is weak fetal movement. Children are usually born with cyanosis due to severe respiratory failure. If they survive, they subsequently experience non-progressive generalized muscle weakness involving the facial and extraocular muscles. When examining biopsy specimens, muscle fibers resembling myotubules are revealed, as well as reduced in size (hypotrophic) type I fibers. Similar changes can be found in healthy carriers of the pathological gene.
Congenital myopathy with a disproportion of muscle fiber types. In children immediately after birth, hypotension and generalized muscle weakness are observed. Contractures and multiple skeletal deformities are common, such as hip dislocation, kyphoscoliosis, viral or hallux valgus feet. In the first years, muscle weakness may progress, but later the condition stabilizes. Sometimes the weakness may even decrease. Children often appear disproportionately small for their age. A biopsy reveals a relative decrease in the number of type I fibers compared to the number of type II fibers. In half of the cases, however, the opposite relationship is observed with a predominance of type I fibers.
Multicore disease. IN muscle fibers multiple small areas (5-10 µm in diameter) of disappearance of transverse striations are observed. It was found that in these areas not only the disintegration of sarcomeres is observed, but also a decrease in the number or absence of mitochondria. If the size of such areas in diameter does not exceed 3 microns, then they speak of minicore disease. This disease is especially rare. If the size of the affected areas is larger (35-75 μm) and if they also contain vesicular nuclei, they speak of local disappearance of transverse striations. This disease often affects the external muscles of the eye and progresses. Sometimes a biopsy specimen or even a single fiber may show all three of the described types of changes, making histological diagnosis extremely difficult.
Sometimes clinical manifestations multi-rod disease immediately after birth are absent and appear only in childhood or even in adults. It is transmitted in an autosomal recessive or autosomal dominant manner.
Muscular atorophy in children is a hereditary disease and belongs to a broader group of pathologies called myopathies. Less commonly, muscle atrophy can be acquired. In addition, disorders of hereditary origin can be either independent diseases or one of the manifestations of other diseases, most often associated with inborn errors of metabolism.
With many types of myopathies, it is not the muscles themselves that are damaged, but the nerves responsible for their motor functions and their nutrition. Therefore, the term “diseases of the neuromuscular system”, which denotes this group of diseases, is becoming increasingly widespread in our time.
Diseases during which constant or periodic muscle weakness is detected constitute a fairly large and very important group of myopathies. In this case, there is a decrease in normal muscle tension and their atrophy - a significant decrease in volume and partial replacement connective tissue. In a rare pathology, a periodic very strong increase in muscle tone is observed - so-called myotonia. After this, it is quite difficult for the patient to relax the muscles.
True myopathies are only those in which all muscles of the body are affected, but one or another group of them may predominantly suffer, while others may not have any manifestations at all. Disorders in which there is a sharp increase in the tone of one muscle, which most often happens with calf muscles, are classified as false myopathies.
And finally, the last group of myopathies is those in which unusually rapid muscle fatigue occurs, while other disorders recede into the background. This group of pathologies most often develops as a result of a disruption in the transmission of nerve impulses between the nerve innervating the corresponding muscle and this muscle. These diseases are called “synaptic diseases” because the synapse is the gap between a nerve and a muscle, exactly where nerve transmission occurs. This includes myasthenia gravis and diseases of which it is a part.
There is another group of diseases, which, although related to the previous one, sometimes stands apart. These are diseases characterized by very severe muscle weakness, which can sometimes reach the development of complete paralysis in one or another muscle group. These diseases include primarily a pathology such as paroxysmal myoplegia.
For convenience of description, it is advisable to divide all myopathies into the following groups:
— congenital myopathies as independent diseases;
- myopathies of congenital origin, but acting as signs of other diseases;
— myopathies resulting from diseases of the muscles and nervous system of an inflammatory nature;
- progressive muscular dystrophy.
Congenital muscle atrophy
Reasons for development
The disease develops as a result of genetic pathology. As a result, disturbances occur in the structure of the protein molecules that make up the muscle tissue. The structure of various organelles that are located in the muscle fiber is also disrupted.
Clinic, diagnostics
These are diseases that develop as a result of disorders in the genetic apparatus. They appear during the neonatal period and subsequently progress more or less quickly. The presence of the disease can be suspected even when the child is in the womb. Very inactive, sluggish movements on the part of the fetus are determined. After birth, myopathy in a newborn is detected in the form of the so-called “flaccid baby syndrome.” The leading sign that immediately catches the eye is a decrease in the normal tension of the child’s muscles; they are very weak from birth. First of all, all the muscles of the arms, shoulder girdles, upper chest and back are affected. In some cases, the process also affects the muscles of the face and skull, mainly facial muscles. The child’s face resembles a mask, practically does not react facially to the appearance of adults, and does not show positive or negative emotions. IN younger age his cry is sluggish, weak. In the future, he also speaks quietly, slowly. Often, as a result of damage to one or another muscle responsible for the movements of the eyeballs, the child develops strabismus. But, which is typical for myopathy, there are never complaints of double vision, since the organ of vision adapts to all the changes that have arisen throughout life. Almost always, with congenital myopathies, the child has other developmental defects, of which the most often observed are: incomplete development of certain muscles, lengthening and narrowing of the skull, a high, so-called “Gothic” palate, curvature of the spine, most often backward and sideways. Other developmental anomalies are less common.
It is possible to develop disorders of the nerves innervating the pharynx, trachea, muscles of the oral cavity and palate. Most often, these disorders are not detected alone, but in combination with damage to the respiratory muscles or nerves. The signs of pathology in this case are quite characteristic: a quiet, sluggish cry of a small child is noted, the skin becomes bluish, feeding the patient becomes very difficult, as he often chokes, food enters the inhalation tract. Almost always, as a result of impaired ventilation of the lungs and clearing them of mucus, various respiratory infections and pneumonia occur, which later become one of the main causes of death of a child in these conditions. Subsequently, the child lags behind in all types of development: physical and mental. Basic motor skills are delayed in their development: the child begins to roll over on his stomach late, sit, crawl, stand, walk, and does this with difficulty as a result of general muscle weakness. He cannot run or jump. The only preserved function is intelligence, which either does not suffer at all or suffers very slightly.
The examination data of a sick child is supplemented by laboratory research data, the most important of which is the examination of a piece of the affected muscle. This is always enough to make a correct diagnosis.
Treatment
Unfortunately, to date no methods of treatment or at least correction of the manifestations of the disease have been invented. The child very often dies early.
Myopathy in children is one of the the most intractable diseases and is characterized by damage to muscle tissue.
The pathology has characteristic symptoms and requires certain treatment methods. The prognosis of the disease depends on the timeliness of its diagnosis and the reasons that provoked it.
In most cases, the factors that cause the anomaly are hormonal imbalances. This nuance greatly complicates treatment.
How to recognize anorexia in a child? Find out about this from ours.
Concept and characteristics
What is it? Myopathy is a disease characterized by progressive dystrophic changes in muscle tissue and skeletal muscles.
In medical practice, this term combines a group of diseases with similar morphological characteristics.
In most cases, the pathology develops against the background of genetic factors, but can appear at any age.
Myopathy is always accompanied by a decrease in the range of active movements and atrophy of certain areas of muscle tissue.
Causes
The main cause of myopathy in children is hereditary predisposition. The etiological factors contributing to the development of this disease remain unstudied in medical practice.
Experts identify several such causes, but in some cases, myopathy can become a complication of a certain disease in combination with genetic prerequisites that have not been identified in the child for a long time.
Reasons myopathy in children may be due to the following factors:
Classification and forms
Myopathy can be primary or secondary. In the first case, the pathology develops as an independent disease, in the second, it becomes a consequence of the progression of other diseases that have a negative impact on the connective and muscle tissue of the child.
In medical practice, primary myopathy is divided into three separate groups - congenital(symptoms appear in the first months of life), early childhood (pathology is characteristic of children from five to ten years old) and juvenile form (manifests in adolescence).
According to the severity of the pathological process in muscle tissue, myopathy is divided into the following groups:
- Distal type (the pathological process affects certain areas of the muscles of the limbs).
- Proximal form (the disease affects the muscles of the trunk).
- Mixed type (combines two other forms of the disease).
Myopathy is divided into several types depending on the location of the pathological process and the symptoms that appear.
In childhood the most common forms of the disease Duchenne-Griesinger, Erb-Rott and Landouzy-Dejerine syndromes are considered.
In the first case, the myopathy is congenital and affects the pelvic muscles. The Erb-Rott form is accompanied by gradual atrophy of muscle tissue from the lower or upper part of the body. Landouzy-Dejerine myopathy in most cases begins with damage to the facial muscles.
Congenital form
Congenital myopathy in children caused by genetic factors. Localization of the disease can be observed in different chromosomal loci and transmitted over many generations.
The pathology leads to disruption of the process of synthesis of a certain type of protein that is part of the structure of muscle tissue and becomes the cause of generalized weakness of the child’s muscles.
In most cases, the manifestation of congenital myopathy occurs in children in the very early age, and her symptoms persist throughout life.
Reasons The following factors can cause congenital myopathy in children:
- mitochondrial defect;
- deficiency of certain enzymes that are involved in the formation of muscle tissue;
- disruption of the process of cohesion of sex and non-sex chromosomes.
You will find protein-energy malnutrition in children on our website.
Features of Duchenne myopathy
Duchenne myopathy is a separate type of disease that has pseudohypertrophic form.
Symptoms of the pathological process most often appear in children when they reach three or five years of age.
Muscle atrophy starts from the pelvic area. Even the slightest shock can cause a child to fall. The baby's body is unstable and any physical activity make him feel uncomfortable.
The progression of the disease leads to complete immobilization of the child.
Peculiarities pathological process:
- this form of myopathy is diagnosed only in boys;
- the disease always begins to develop with damage to the pelvic muscles;
- atrophy gradually spreads to the area of the shoulders and back;
- the pathological process is accompanied by scoliosis, cardiac and respiratory failure;
- the muscles of the upper limbs atrophy last stage development of the disease;
- a complication of this type of myopathy can be mental retardation.
Symptoms, clinical picture
In most cases, myopathy develops in children at a slow pace. The first symptoms can occur at any age, but most often the disease is detected in children of primary and preschool age.
A distinctive feature of the disease is symmetrical damage to muscle tissue. The pathological process primarily affects the muscles of the limbs, upper body and pelvis. Gradually, the disease spreads throughout the child’s body.
Symptoms of myopathy in children are the following factors:
- while walking, the child experiences a characteristic swaying of the pelvis;
- manifestation of general weakness of movements;
- excessive fatigue during basic physical activity;
- poor fine motor skills;
- false hypertrophy of some muscle groups;
- signs of limited active movements;
- marbling and bluish tint of the skin;
- weakening of facial expressions;
- excessively thick lips;
- progression of scoliosis;
- significant decrease in muscle tone;
- eyelids don't close eyeball fully;
- violation of the sweating process;
- thin thighs combined with thin legs;
- development of respiratory failure;
- excessive protrusion of the ribs;
- pterygoid blades.
Children with myopathy find it difficult to take sitting position when the body is in a horizontal position. The baby first rolls over onto his side or stomach. Then he gets on all fours and only then sits down.
The process is accompanied by obvious difficulties. In addition, one of the symptoms of myopathy is the difficulty of walking up stairs. The baby not only gets tired quickly, but also performs movements with obvious discomfort.
Complications and consequences
Myopathy is not one of them deadly diseases.
The symptoms of this pathology can manifest and progress at a slow pace over many years.
However, the cause of death at an early age can be the psychological state of the child. Due to limited movement children experience extreme stress and become suicidal.
Depressive conditions can lead to many associated disorders.
Consequences of myopathy in a child the following factors may be involved:
- serious depressive conditions;
- restriction of the child’s movements or complete immobility;
- progressive heart failure;
- development of paresis and paralysis;
- cardiomyopathy;
- serious pathologies of the digestive system;
- respiratory failure;
- congestive pneumonia;
- lethal outcome.
Diagnostics
The task of diagnosing myopathy in children is not only to establish the fact of the disease, but also to determine its stage, identify affected muscle groups, and also evaluate general condition child.
The doctor collects anamnesis and determines fact of hereditary predisposition baby to pathology. After the initial examination of the child, special tests and consultation with specialized specialists are prescribed.
At diagnostics myopathy in children, the following procedures are used:
- General and biochemical analysis of blood and urine;
- blood test for the content of enzymes involved in the formation of muscle tissue;
- genetic research;
- urine test for amino acids and creatine;
- muscle tissue biopsy;
- study of hormones produced by the thyroid gland;
- electromyogram;
- histochemical examination of muscle biopsy;
- fibrillation on EMG;
- blood test for uric acid levels;
- Ultrasound of muscles;
- consultation with an endocrinologist and geneticist.
Treatment methods
Hereditary myopathy is practically untreatable, but its therapy is aimed at reducing the symptoms of the pathological process.
Course of taking certain medications and schedule of medical procedures prescribed to children individually.
Regardless of the causes and forms of myopathy, therapy always includes special drugs, respiratory and therapeutic exercises, as well as orthopedic correction measures.
The following can be used in the treatment of myopathy in children: drugs:
- B vitamins;
- anticholinesterase drugs (Galantamine, Ambenonium);
- electrophoresis with Neostigmine;
- anabolic hormones (Ceraxon, Nerobol, Cerebrolysin);
- iontophoresis with calcium preparations;
- drugs for symptomatic treatment.
Prevention
Prevention of myopathy in children finds it difficult due to the hereditary nature of this disease.
Thanks to special techniques Gene mutation examinations can detect gene mutations even in the early stages of a woman’s pregnancy.
In medical institutions, such procedures are necessarily prescribed to women who have a family history of myopathy. A man with such factors also needs to undergo additional examination.
Measures to prevent myopathy in children include the following: recommendations:
- From the first days of life, the child needs to have a massage.
- Gentle hardening of the baby from the first months of life is recommended.
- To strengthen child's body It is necessary to use vitamin complexes appropriate for the baby’s age.
- The child's nutrition should be balanced and complete.
- Providing your baby with regular physical activity.
Myopathy cannot be completely cured, but with the help of specially designed therapy it can be Make your child's life a lot easier.
An illness is never a surprise to parents.
For him there will definitely be certain prerequisites(cases of illness in relatives). If there is a risk of myopathy in the unborn child, then pregnancy planning must be taken with a high degree of responsibility.
The likelihood of having a healthy baby increases if the natural process of conception is excluded.
About myopathy Duchenne you can learn from this video:
We kindly ask you not to self-medicate. Make an appointment with a doctor!
The causes of myopathy include:
1. A hereditary defect plays a leading role in the occurrence of hereditary myopathy. With this type of myopathy, the disease is transmitted in the following ways:
- when linked to the X chromosome;
- when linked to autosomes.
2. Can be formed as a result of a genetic defect due to a deficiency of enzymes that participate in metabolic processes in muscles, or as a result of a mitochondrial defect.
3. Due to hormonal imbalance.
4. As a result of connective tissue diseases.
Myopathy can be primary, developing independently. The reason for its appearance is a hereditary factor. If myopathy occurs against the background of a disease, we can talk about secondary myopathy.
Unfavorable factors that can cause this pathology include:
- presence of infection;
- presence of overvoltage;
- poisoning of the body.
Symptoms
The initial stage of the disease can be determined by developing weakness and atrophy individual muscles. Further, the dystrophic process spreads to increasingly larger areas of muscle tissue. This leads to paralysis. The muscles in the pelvic area are mainly damaged, shoulder muscles, then the torso, arms and legs. Since myopathies are bilateral, myopathy that occurs on one side of the body will eventually move to the other. Symmetrical muscle damage occurs. As a result, it will decrease muscle tone and strength, tendon reflexes will decrease. With dystrophy of one muscle group, another group may increase. This is manifested in an increase not so much in muscle mass, but due to an increase in the volume of fat and connective tissue. The muscles become dense. Myopathies can be recognized by the following symptoms:
- change in gait (stammering, waddling);
- poor motor skills (stunted growth);
- muscle weakness;
- muscle atrophy;
- decreased muscle tone;
- curvature of the spine;
- paralysis;
- weakness;
- respiratory failure;
- cardiomyopathy;
- headaches;
- increased fatigue;
- flabbiness and lethargy of muscles;
- disruption of the gastrointestinal tract;
- heart failure;
- pulmonary failure.
Diagnosis of myopathy in a child
To diagnose myopathies, the following tests and studies are performed:
1. Blood is given for analysis. The amount of an enzyme involved in metabolism in muscle tissue is checked (creatine kinase is released into the blood when muscles are destroyed).
2. The amount of hormones produced by the thyroid gland is checked.
3. A muscle biopsy is performed, followed by studying the material under a microscope.
4. Histochemical examination of muscle biopsy.
5. Genetic research is being carried out.
6. Electromyogram (to study damage to nerves and muscles).
7. Urine is examined for the level of creatine, amino acids (increases), and the level of creatinine decreases.
Complications
Due to muscle weakness, you may develop:
- heart failure (disorders of heart rhythm and conduction);
- respiratory failure occurs as a result of involvement of the respiratory muscles in the pathological process;
- inability to move independently;
- paresis, paralysis;
- the appearance of congestive pneumonia due to the accumulation and stagnation of blood in the lungs;
- the possibility of death increases;
- curvature of the spine;
- difficulty chewing and swallowing, as a result of which a tube is inserted into the stomach through which food will be taken;
- cardiomyopathy;
- constant constipation as a result sedentary image life.
Treatment
What can you do
It is necessary to balance the child's diet. With the help of a doctor, create a diet that is rich in proteins and vitamins, reduce the amount of fats and carbohydrates. For this pathology, dairy products are very useful. But sweets can be replaced with dried fruits and honey. Try to actively spend time with your child. It is necessary to support the child in everything, without letting him feel inferior. Create a cozy, calm atmosphere in your home.
What does a doctor do
The doctor collects data on the child’s health status and the development of clinical signs.
1. Finds out when the first signs of myopathy appeared.
2. In which muscles exactly did the pathology occur?
3. Are there any cases of myopathies in the family.
4. A neurological examination is carried out, during which the following is assessed:
- the prevalence of dystrophic changes in muscles;
- How widespread is the muscle weakness?
- muscle tone (decreased);
- how curved the spine is, whether scoliosis or lordosis, kyphosis predominates;
- reflexes are checked (reduced or absent);
- The way the child walks is assessed (stammering, waddling).
The doctor looks at how the child gets up. As a result of muscle weakness, the child cannot stand up normally from a deep squat. In order to stand up, the child will first put his hands on the floor, then his knees, and only then straighten up completely.
Next, the doctor prescribes tests and studies. After which symptomatic therapy is prescribed. Which will include anabolic steroids, vitamins, ATP, physical therapy, breathing exercises. Special devices are selected that will help the child move independently.
Prevention
Preventive methods will focus on:
- regular physical activity;
- massages;
- hardening;
- following a diet and eliminating “bad foods”;
- take a course of vitamins.
And also visit doctors in a timely manner and follow all their instructions. Prevention of congenital myopathies can only be done in the prenatal period. During pregnancy you must adhere to healthy image life, while visiting doctors, leading an active lifestyle. Don't forget about taking vitamins.
You will also learn how untimely treatment of myopathy in children can be dangerous, and why it is so important to avoid the consequences. All about how to prevent myopathy in children and prevent complications.
And caring parents will find on the pages of the service full information about the symptoms of myopathy in children. How do the signs of the disease in children aged 1, 2 and 3 years differ from the manifestations of the disease in children aged 4, 5, 6 and 7 years? What is the best way to treat myopathy in children?
Take care of the health of your loved ones and stay in good shape!
There are congenital pathologies that arise due to mutations in genes. One of these is muscle myopathy. The disease is characterized by incompletely understood causes of development, as well as characteristic manifestations. Treatment of the pathology depends on its form and severity of symptoms.
Myopathic syndrome is a lesion of human muscles. This pathology is characterized by a chronic course with constant progression of symptoms. With myopathic syndrome, a malfunction occurs in the metabolism and the very structure of muscle tissue.
The result is serious limitation in a person’s movements, as well as a decrease in strength in his muscles.
Myopathic syndrome refers to various pathologies associated with muscle damage. They are characterized by degenerative phenomena in tissues. In this case, skeletal muscles are most often affected.
The syndrome causes selective atrophy affecting some fibers. The most animal nervous system continues to retain its functionality.
Reasons
The main provoking factor in the development of pathology is hereditary predisposition. Myopathy often occurs in children and adolescents. The earlier the syndrome appears, the more severe it will be in the child as he grows older.
Possible causes of myopathy of the muscles of the legs and other parts of the body may also be associated with:
- complications of chronic tonsillitis;
- persistent ARVI;
- previous pyelonephritis;
- bacterial pneumonia;
- endocrine diseases (hyperthyroidism and hypothyroidism);
- chronic alcoholism;
- drug addiction;
- chronic renal and liver failure;
- various tumors;
- heart failure;
- traumatic brain injuries;
- damage to the pelvic bones;
- salmonellosis.
The disease can develop due to the characteristics of professional activity in heavy and toxic industries. A possible provoking factor for the development of pathology is also constant overexertion.
Types of myopathies
It is customary to distinguish the following types of this pathology:
- hereditary;
- metabolic;
- paraneoplastic;
- inflammatory;
- toxic;
- membrane
Hereditary myopathies are more common. They are divided into types:
- Juvenile or Erb's myopathy. It affects young people no older than 30 years of age. The disease develops in adolescence. Expressed by atrophy thigh muscles. The disease also affects the muscles in the pelvic girdle. Characteristic features pathologies include a “duck” gait and cessation of the functioning of the oral muscles.
- Myopathy. It increases significantly muscle mass, but the muscles themselves remain very weak. For this reason, the disease is called pseudohypertrophic. Boys are more susceptible to it. The pathology is characterized by an aggressive course, leading to disability and death due to complications in the heart and respiratory organs.
- Humoscapulofacial myopathy. Children from 10 years of age are susceptible to the disease. Boys and girls under 20 years of age are also at risk. Manifested by weakness of the facial muscles. Subsequently, atrophy is observed in the area of the shoulder girdle and shoulder blades. Hypertrophy of the eye and oral muscles develops. The disease progresses slowly and does not always cause disability.
Metabolic myopathies develop due to a malfunction in lipid metabolism. This type of muscle atrophy also occurs against the background of impaired purine and glycogen metabolism.
Reference. Ocular myopathy also occurs. The disease occurs with only one symptom - myopia. Other disorders may not be observed in a person with pathology. The patient usually has Becker myopathy in a mild form. With it, young people experience a significant increase in the volume of the calf muscles.
Characteristic manifestations of the disease
The main symptom is muscle weakness in dystrophic myopathy. It is complemented by the progressive loss of their functions. Common signs of pathology include:
- frequent fatigue;
- pain in specific affected muscles;
- violation of joint mobility (its decrease or increase);
- muscle aches;
- weakness in them and lack of strength.
Certain types of myopathy are manifested by the following symptoms.
With humeroscapulofacial myopathy, symptoms are expressed in the form of an increase in the size of the lips, impaired pronunciation, and the inability to close the eyes. The patient also experiences a change in facial expressions.
Diagnostic measures
The disease can only be detected through comprehensive examination patient. Diagnosis of myopathy includes:
- electroneurography;
- electromyography;
- study of the biochemical composition of blood (study of creatinine level);
- biopsy with muscle flap harvesting.
Additionally, the patient may undergo an X-ray examination of the lungs. Also, if there are manifestations of heart failure, he requires an ECG and ultrasound of the heart. Consultation with a cardiologist is required. MRI is also an effective diagnostic method for detecting myopathy.
Therapy
Complete treatment of myopathy at the moment not yet developed. Therapy for various forms of pathology is being developed within the framework of genetic engineering. The specialist studies the symptoms, and treatment of myopathic syndrome in children is prescribed taking into account their manifestations.
As part of symptomatic therapy, taking vitamins is indicated. The basis of treatment is vitamins B and E. To improve metabolism in muscle tissue, amino acids are also prescribed. These include glutamic acid. A hydrolyzate obtained from pork brain is also recommended.
To normalize metabolism, adenosine triphosphate is indicated, anabolic steroid(nandrolone decanoate), thiamine pyrophosphate. Neostigmine, galantamine, potassium and calcium preparations are also used in treatment. The prescribed drugs are taken in combination. The course of therapy lasts from 30 to 45 days three times a year.
It is necessary to supplement drug treatment with physiotherapeutic procedures. The patient undergoes the following:
- ultrasound treatment;
- electrophoresis using neostigmine;
- iontophoresis using calcium.
Patients are also advised to have a light massage. They are selected individual exercises within physical therapy. In this case, it is recommended to do exercises in water. Patients are also required to wear corrective corsets. After consultation with an orthopedist, special shoes are selected.
Important! For the treatment of Duchenne myopathy, the drug “Translarna” (another name is “Ataluren”) has been developed. Its registration was approved in Europe in 2014.
Prognosis for the disease and its prevention
Since radical treatments have not yet been developed for the treatment of the pathology, the prognosis for it is generally unfavorable. Much depends on the type of myopathy. Mild forms of the disease progress slowly; maintenance therapy helps improve the patient’s quality of life.
Myopathies that develop in early childhood are more severe. In most cases they lead to disability. The prognosis for Duchenne myopathy is also poor. It affects the heart muscle and respiratory organs. The disease progresses faster than other types and often leads to death from heart or respiratory failure.
The prognosis for secondary type myopathy is assessed as favorable. It is important that the underlying disease is successfully treated.
The main method of prevention is the complete treatment of any infectious diseases. Timely treatment of endocrine disorders is also required. It is necessary to avoid exposure to toxic substances on the body and try to correct metabolic failures.
Attention! Married couples who are planning to conceive a child are recommended to undergo consultation with a geneticist regarding a possible predisposition to the development of the disease.
Conclusion
Myopathy is a group of chronic pathologies of varying degrees of progression in which muscle atrophy develops. The disease can be either primary or secondary. The main reason for its appearance is considered to be genetic predisposition. The severity of the pathology depends on its type.
Myopathy of the heart muscle has the most severe consequences for the body. The disease provokes the development of its insufficiency, which is fraught fatal for the patient. Due to the chronic status of myopathy and the lack of radical drugs for its treatment, this pathology is in fact incurable.
