Myopathy: symptoms, principles of diagnosis and treatment. Complexity of congenital myopathy: possible symptoms and consequences Congenital structural myopathies

Pediatric congenital myopathy– a neurological disorder, the term for which refers to over 10 types of muscular dystrophy. Making a diagnosis requires careful examination of the patient, as this type of genetic disorder is rarely detected.

Congenital myopathic pathology most often affects X chromosome. Because of this, uncontrolled, constantly progressive disorders occur in the development and maintenance of muscle fibers.

The structure of the muscles in this disease changes so much that they are almost completely replaced either by fatty deposits or connective tissue.

No doctor can say exactly why congenital myopathy appears in a child. The factors responsible for the formation of this disorder in the human genome have not been studied, like most of the causes of other genetic abnormalities.

It is known that myopathy in children begins to form during intrauterine development.

Important! Already in the first months of life, you can notice the syndrome in a child: he is too lethargic, passive, gets tired quickly and moves poorly.

During the first six months, the baby experiences acute difficulties when standing on his feet, trying to sit, and it is difficult for him to hold his head up. Almost always, congenital myopathy is accompanied by diseases of the internal organs:

intellectual development is disrupted, pathologies of the mental sphere, retardation, and mental abnormalities appear, since the brain and nervous system experience enormous stress and do not receive enough nutrients due to congenital structural myopathy;
diseases of the heart and respiratory system appear due to general weakness of the muscular system. These are the most dangerous conditions, which in congenital myopathy often lead to death;
the bone marrow suffers, which is why certain changes in development are observed in congenital structural myopathy: the spine is deformed, the child has a too high palate, congenital dislocation of the hip is detected.

Doctors believe that congenital myopathies can arise due to health problems in the baby that develop before or after birth during the first months.

These disorders include, first of all, birth injuries associated with changes in the structures of muscle tissue. Pathologies of connective structures are also identified, which in congenital myopathy are obvious from the first months of life.

In some cases, with congenital myopathy, disturbances of the sympathetic innervation are detected - the patient has problems with the transmission of nerve impulses as a result of pathologies of the cerebellum. In other cases, the disease is associated with changes in the structure of the thyroid gland.

The disease may depend on the level of creatine and creatinine in the body; a connection between congenital structural myopathy and their indicators has been noted. Doctors also believe that structural disorders may be a consequence of infections or the baby not receiving enough microelements while still in the womb.

Main signs of the disease

The first symptoms of myopathy in children can be detected already in the first months of life. As noted, these are signs of a “lethargic child”:

decreased muscle tone;
weak sucking of breast milk;
poorly developed muscles;
after 1-2 months, muscle weakness becomes so pronounced that it is impossible to ignore it;
With congenital myopathy, symptoms such as the inability to walk normally, actively crawl, or climb onto a chair appear.

In severe cases of congenital myopathy, children are forced to constantly be in a wheelchair. It becomes difficult for them to acquire new physiological skills, and old ones are difficult to acquire, although they are never completely lost.

Gradually, with congenital structural myopathy, respiratory failure develops, which is accompanied by persistent bronchitis, congestive or focal pneumonia. The intensive development of the pathology leads to the fact that the child dies from the inability to breathe in infancy.

Types of violations and additional signs

There are acute and moderate congenital myopathies in children, differing in the type of inheritance and the type of altered genomes. There are 2 groups of myopathies in children:

Muscular dystrophy. There is a change in the composition of muscle tissue due to improper absorption of proteins that are found in the fibers.
Structural form. Incorrect synthesis of protein components.

Within this classification there are several other species. Most of them are extremely rare. But there are types of congenital myopathy that you need to know about.

Pathology of the central nerve core

This type of congenital myopathy can be diagnosed only 1-2 years after the birth of the child based on specific signs. The first symptoms are similar to the general factors in the development of the disease, then they increase in severity:

in the first year there is an increase in symptoms and a sharp lag in physical development against the background of an acute decrease in muscle tone;
bone anomalies are observed, the skeleton changes;
motor ability is only partially preserved;
malignant hyperthermia develops;
bone fragility is observed.

Patients with congenital myopathy of this type are characterized by pathologically short stature.

Neraspberry form

One of the most severe forms of the disease, which can only be detected in the last stages of pregnancy and immediately after childbirth.

Important! Nemaline congenital myopathy is accompanied by severe skeletal disorders, acute respiratory failure and muscle weakness are observed.

In most severe cases, children do not survive. If the baby was born with a mild degree of impairment, then it is detected only after 3-4 years. The disease progresses slowly, without symptoms characteristic of a severe form. In case of violations, problems arise from the ophthalmological side, the heart or spine suffers.

Fiber imbalance

When there is a disproportion of muscle fibers, congenital myopathy is accompanied by severe skeletal deformities and hypotension.

Multiple central rods

In infants, severe muscle weakness of the limbs is immediately noticeable, and in children, hypotension becomes general.

Myotubular variety

Symptoms of congenital myopathy are mild. The X chromosome-dependent variant is found only in boys and is severe. There is severe muscle atrophy, leading to breathing and swallowing problems. Milder forms are more common in girls.

Centronuclear pathology

Congenital myopathy is observed immediately after birth and is accompanied by a triad of symptoms:

First, respiratory failure occurs;
then muscle weakness is detected;
there are pronounced skeletal disorders.

The child is diagnosed with eye problems and mental retardation in almost 60-70% of cases. Over time, complete disability occurs.

How is the disease diagnosed?

The main problem in diagnosing congenital myopathy lies in the fact that the pathology is very difficult to detect. A neurologist can suspect it only with extensive experience and a targeted examination, when there is instability of muscle structures.

At this stage of diagnosis, it is necessary to exclude diseases such as myositis or dermatomyositis, which differ from structural congenital myopathies.

The doctor makes the final diagnosis after receiving the results of a muscle tissue biopsy. However, using this research method it is not always possible to accurately determine the type of pathology and predict its course.

Complications and consequences

In most cases, congenital myopathy is dangerous to the health of children. Moreover, it is a deadly disease. Symptoms of the pathology progress over years and even decades.

Important! In childhood, one of the causes of death with congenital myopathy is suicide, since children cannot endure such severe stress for a long time due to their own physical condition.

Depression– a very serious consequence of the disease, which can cause additional diseases and severe mental disorders. Also, serious consequences of congenital structural myopathy include:

acute respiratory failure;
heart disease, including sudden cardiac arrest;
paralysis and paresis of the body and limbs;
complete immobility;
death.

Dealing with congenital structural myopathy is extremely difficult for both adults and children. This disease cannot be cured, so therapy is aimed at maintaining vital functions and eliminating symptoms that cause pain and discomfort to the patient.

Diseases belonging to the group of congenital myopathies have a complex clinical picture and similar symptoms, which significantly complicates their diagnosis and treatment.

It manifests itself as diffuse muscle weakness and decreased muscle tone, the severity of which directly depends on the type of myopathy and its level of complexity. In severe cases, it can lead to death from respiratory failure.

Congenital myopathy is a genetically determined disease. Different types of myopathy can be located at different chromosomal loci, and therefore can be inherited recessively, dominantly, or together with the X chromosome. Genetic pathology disrupts the synthesis of protein, which is part of muscle tissue, which leads to disruption of the structure of muscle fibers. As a result, the muscles lose the ability to contract normally, and muscle weakness is observed.

Congenital myopathy usually manifests itself in early childhood (very rarely manifests itself in adults) and retains its symptoms throughout the patient’s life. Most often, this disease progresses poorly or does not progress at all.

The pathogenesis of myopathy is not fully understood and the causes of its appearance are not clear. There is a hypothesis of a “membrane defect” in muscle cells and cytoplasmic organelles, which many neurologists call the cause of the onset of the disease.

Muscle biopsy provides certain biochemical and morphological data, on the basis of which all diseases of congenital myopathy can be divided into two large groups.

Congenital muscular dystrophies

The first group is congenital muscular dystrophy (impaired function and structure of muscle fibers as a result of a failure in the synthesis of proteins that make up their composition). There is no clear classification of congenital muscular dystrophies, but based on the hypotheses of the pathogenesis of this group of diseases, two groups can be distinguished:

merosin-negative diseases, which are characterized by a deficiency or absence of the mezzanine protein, which is part of striated muscles;
congenital structural myopathies and merosin-positive, in which the mezzanine concentration is normal.

The merosin-negative group of diseases is divided into several types:

Fukuyama congenital muscular dystrophies;
muscular-eye-brain syndrome;
Walker-Warburg syndrome.

The clinical picture of diseases of the merosin-negative group is very similar to the symptoms of classical congenital myopathies, but a distinctive feature is the involvement of various brain structures in the general symptoms, which leads to further mental retardation and developmental delay. Diseases of the merosin-positive group much less often involve damage to the central nervous system (approximately 10% of patients have brain damage) and usually do not entail inhibition of intelligence. The clinical picture is characterized by spinal deformation and disruption of facial features.

Congenital structural myopathies

The second group is congenital structural myopathies (violations of the integrity of the cytoskeleton of muscle fibers and the occurrence of pathology in muscle biopsy). This group of diseases is characterized by a violation of the synthesis of proteins responsible for growth and other functions of muscle formation in the early development of the embryo.

Congenital structural myopathies include:

central core disease;
nemaline myopathy;
centronuclear myopathy;
megaconial myopathy;
myopathy;
myopathy;
myotubular myopathy;
myopathy with crystalline inclusions.

The clinical pictures of each of the diseases in this group are similar to each other and are characterized by muscle hypotonia and hypertrophy, decreased reflectivity in the tendons and increased concentrations of creatine phosphokinase in the blood. Slow progression is observed.

Symptoms of congenital myopathy

Congenital myopathy most often debuts in the first months of a child’s life. These diseases are characterized by the presence of the “flaccid baby” syndrome: a noticeable decrease in muscle tone, muscle weakness, poor muscle development and weakness during the sucking process. As the child develops, muscle weakness is more noticeable - lack of strength to stand on his feet or simply lift his body, difficulties may arise when walking or sitting, and there is a noticeable lag in physical development compared to other children of the same age.

Muscle weakness can be severe or mild. Most often, symptoms persist for the entire period of the patient’s life and practically do not progress or develop weakly. In some cases, it is possible to observe the inability to move independently, so the patient is forced to use a wheelchair, but the self-care skills acquired by him are not lost.

Congenital myopathies provoke not only weakness of the muscles of the limbs and back, but also the muscles of the respiratory muscles weaken, which is especially dangerous for infants. If muscle weakness of the respiratory tract is expressed to a small extent, then the development of respiratory failure is observed. This, in turn, provokes various respiratory diseases (bronchitis, all kinds of pneumonia). Sometimes respiratory failure leads to death in infancy. There are cases when muscle weakness decreases with age or, on the contrary, progresses.

In some cases, congenital myopathy also manifests itself in the form of dysmorphic facial features (elongated skull shape, high palate) or pathologies of skeletal development (scoliosis, clubfoot, congenital hip dislocation, kyphosis).

Central core disease

It is inherited in an autosomal dominant manner with incomplete penetrance (but sporadic cases of heredity also occur). This form of congenital myopathy is characterized by pathology of the proximal muscles of the limbs, but patients are able to acquire some motor skills. In infancy, delayed motor development and hypotonia are observed, but this disease can only be diagnosed at a later age with skeletal changes and severe muscle weakness. In this case, skeletal pathologies are observed: foot deformation, kyphoscoliosis, hip dislocation, shoemaker's chest.

Most often, patients have a fragile figure and short stature. When diagnosing the disease, a muscle biopsy is performed, which shows the presence of multiple or single discontinuous zones that are devoid of oxidative enzymes in some muscle fibers. Other laboratory tests may show normal results. Patients with central core disease are prone to developing malignant hyperthermia.

Nemaline myopathy

The second name for this disease is congenital non-progressive filamentous myopathy. Heredity is mainly transmitted in an autosomal dominant manner, but recessive and sporadic ones are also found. Possible death due to respiratory failure in early infancy. Severe skeletal pathologies are observed. The development of the disease may occur to varying degrees, or may not progress at all. In some cases, patients are forced to move using a sitting gurney, in others they suffer from respiratory failure. When diagnosing, a histological examination is carried out, which reveals unusual or rod-like, non-crimson bodies in the muscles. EMG usually confirms the diagnosis of myopathy.

Myotubular myopathy

This type of congenital myopathy is inherited in an autosomal recessive manner. Myotubular myopathy is characterized by the presence of centrally located nuclei in most muscle fibers. This resembles the appearance of the muscle on the myotubular fetal development. As a result, the disease got its name.

Diagnosis of congenital myopathies is a complex process, since the doctor needs to differentiate and determine the specific type of myopathy in order to prescribe adequate treatment and make the correct diagnosis. A neuropathologist identifies neurological symptoms, conducts electrophysiological and biochemical studies to establish heterozygous carriage of the myopathic gene. Electromyographic examination using cutaneous electrodes often shows a decrease in the voltage of the EMG curve. When performing a biochemical blood test, an increased concentration of aldolase and creatine kinase is observed in the serum.

Treatment of congenital myopathy

Treatment of congenital myopathies is ineffective. There is no clear treatment at the moment. Scientists are still arguing about whether congenital myopathy can be treated. Medical institutes in different countries are conducting research at the gene level using stem cells. There is symptomatic treatment, which consists of influencing metabolic processes in the patient’s body, in particular, protein synthesis, and an attempt to normalize the functions of the autonomic nervous system. Most often, drug treatment includes taking anabolic hormones (Nerobol, Ceraxon, Retabolil, Somazin), ATP. Vitamin therapy is mandatory. Anticholinesterase drugs are also prescribed.

A mandatory part of the treatment process for congenital myopathies is physical therapy. This could be exercise in water or a set of exercises. Exercise therapy is supervised by a trainer or neurologist. In some cases, orthopedic correction is effective (for example, wearing orthopedic shoes, corsets or the use of orthopedic mattresses, pillows, chairs).

The condition and clinical picture of the disease is monitored by a neurologist, therapist, pediatrician, cardiologist and orthopedist-traumatologist.

Myopathies in children

The following forms of congenital myopathies in children are distinguished:

disease of the “central core” (Shaya-Mezhi);
nemaline myopathy;
myotubular (centronuclear) myopathy;
Reilly-Shwachman syndrome;
hypermetabolic myopathy (Lufta).

Symptoms of myopathies in children

Main clinical symptoms:

muscle weakness (in the proximal limbs);
muscle hypotonia (without atrophy);
low tendon reflexes (or complete absence) are the main manifestations of the disease.

Muscular pathology affects the development of motor skills in childhood; in particular, patients begin to walk late. However, over time, adaptation to the existing defect occurs, and the condition of most patients stabilizes.

Disease of the “central core” (Shaya-Mezhi)

Congenital disease. The type of inheritance is autosomal dominant with variable expressivity. The pathological gene is suspected to be on chromosome 19. Inheritance is also possible in an autosomal recessive manner; Sporadic cases are also known. The incidence of the disease in men and women is the same.

The disease is manifested by the “flaccid child” symptom complex - diffuse muscle hypotonia. Muscle weakness is more pronounced in the proximal legs. Weakness of the facial muscles is rarely detected. There is a delay in locomotor development: children usually begin to walk only by the age of 3. Muscle wasting is moderate, reflexes are reduced. By puberty, the manifestations of the disease stabilize, but painful cramp-type cramps in the legs are possible, intensifying with physical activity.

Along with myopathic symptoms, various osteo-articular anomalies are usually present: kyphoscoliosis, curvature of the hips, flat foot, and finger deformities.

Most patients adapt to muscle weakness, take care of themselves, and perform some types of work. Intellectual development is normal.

In a biopsy of muscle tissue, when stained with trivalent chromium according to Gomori, blue-stained myofibrils are revealed in the central part of the fiber. The activity of enzymes in the blood of patients rarely increases.

Nemaline myopathy in children

Congenital disease. It is characterized by generalized muscle weakness, including the facial muscles and sometimes the respiratory muscles. The severity of muscle weakness varies from mild to disabling. Bone abnormalities are often detected: high palate, scoliosis, chest deformities, hollow feet. Intelligence preserved. The flow is stationary.

In a muscle biopsy (when stained according to Gomori), enlarged muscle fibers containing myofibrils, stained red, are determined.

Myotubular (centronuclear) myopathy

The disease manifests itself from the first days of life, but sometimes later. It is characterized by generalized muscle hypotonia and weakness of the extrinsic eye muscles, as well as tendon areflexia.

The course is stationary, occasionally slowly progressive. In a muscle biopsy, a violation of the transverse striation of muscle fibers is determined; the nuclei of most of them are not located under the sarcolemma, but are centered and surrounded by a zone devoid of myofibrils.

The etiology of the disease is unknown. Hereditary predisposition has a certain significance.

Hypermetabolic myopathy (Lufta)

The disease is familial, the type of inheritance is not specified.

Characterized by moderate diffuse muscle wasting, tendon areflexia, muscle weakness and autonomic disorders (low-grade body temperature, hyperhidrosis, tachycardia, polydipsia). The basal metabolism is significantly increased.

Electron microscopy of a muscle biopsy reveals clusters of giant mitochondria in the perinuclear zone of the muscle fiber. Mitochondrial pathology leads to the uncoupling of the processes of respiration and phosphorylation with the release of large amounts of heat. As a result, the body temperature rises, the patient does not tolerate heat well.

Treatment of myopathies in children

There is no specific treatment for non-progressive forms of hereditary myopathy in children. General restorative and symptomatic therapy is indicated.

Congenital myopathy in children

Congenital myopathies include some forms of myopathies that arise in utero and are present in children from birth. Among congenital myopathies, the following varieties appear: nemaline, central core disease, centronuclear.

Nemaline myopathy (thread-like or rod-shaped). A genetic disease with autosomal dominant and autosomal recessive inheritance.

It manifests itself from birth in the form of muscle hypotonia (the muscles of the shoulder and pelvic girdle are mainly affected) and subsequent delay in motor development. Hypotonia is more pronounced in the proximal limbs. In some cases (with significant severity of muscle hypotension), the development of acute respiratory failure is observed.

The disease slowly progresses and is accompanied by kyphoscoliosis, and weakness of the facial muscles leads to the formation of a dysmorphic phenotype (elongated and narrow face, high palate, etc.).

The diagnosis of nemaline myopathy is based on muscle biopsy data (multiple small rod-shaped inclusions containing structural protein are found in most fibers; at the same time, a predominance of type 1 fibers is noted). The concentration of CPK in the blood of patients can be both normal and elevated. The data from the ENMG study are not very informative.

Central core disease (Shai-Meiji congenital myopathy)

The type of inheritance of the disease is autosomal dominant (gene locus 19q13.1, OMIM). The primary biochemical defect in the described disease has not been identified.

The disease manifests itself from birth in the form of muscle hypotonia, limited motor activity and delayed motor development of the child. Predominant damage to the muscles of the proximal limbs is noted, but the sternocleidomastoid and orbicularis oculi muscles may also be involved in the pathological process. Tendon reflexes from weakened muscles are suppressed or weakened. Subsequently, children experience the formation of scoliosis and various foot deformities.

The diagnosis of central core disease is made by examining muscle biopsies (in the central part of all type 1 fibers there are clearly defined cores consisting of densely grouped abnormal myofibrils with signs of degenerative decay). The content of CPK in the blood does not change. Signs of a myopathic process according to ENMG studies may be absent.

Tubular neuropathy in a child

Centronuclear myopathy (progressive tubular)

A group of familial diseases (X-linked, autosomal dominant, sporadic and autosomal recessive) characterized by slowly progressive general muscle weakness and atrophy; the nuclei of most muscle fibers are localized more in the center than at the periphery of the muscle fibers.

It is customary to distinguish between acute and chronic myotubular myopathies. Acute myotubular myopathy (the causative gene is mapped to the Xq28 segment of the long arm of the X chromosome) manifests itself in the newborn period (generalized muscle hypotonia, respiratory disorders: apnea, aspiration, etc.). Children often have suppressed or impaired sucking, swallowing, and tendon reflexes. Some patients are characterized by the presence of ptosis and ophthalmoplegia.

To establish a diagnosis, typical muscle biopsy data are required (predominance of hypotrophic fibers of type 1 containing a large number of internal nuclei; in the central parts of myofibrils, the activity of oxidative enzymes is increased and the activity of muscle ATPase is decreased). Data from ENMG studies usually indicate the presence of a pathological process of myopathic, neurogenic or mixed type. The level of CPK in the blood does not change.

In turn, chronic myotubular myopathy is characterized by an autosomal dominant mode of inheritance, although sporadic cases of the disease are known. Some patients have signs of muscle hypotonia from birth, while others gradually develop delayed psychomotor development. Muscle weakness affects the proximal or distal limbs, neck flexors, and axial muscles.

In some cases, children have ptosis from birth, to which ophthalmoplegic disorders join and progress in infancy. Simultaneously with these changes, weakness in the limbs gradually increases in children, hypomimia and decreased tendon reflexes appear.

For an accurate diagnosis, it is necessary to study a muscle biopsy (morphological changes correspond to those in the acute form of the disease). The concentration of CPK in the blood does not change.

Congenital myopathy with fiber disproportion type 1

A group of genetically heterogeneous diseases (sporadic, autosomal dominant) with similar morphological changes in the muscles.

Signs of muscle hypotonia and weakness can be noted from the first days of life, although they sometimes occur at an older age. The disease causes muscle weakness ranging from moderate to severe. Muscle hypotonia predominates in the proximal muscles; tendon reflexes in children are depressed or absent. With early onset of muscle weakness in children over 1 year of age, kyphoscoliosis often develops. Some children experience weakness of facial muscles, ptosis, oculomotor disorders, and changes in the facial skeleton.

A muscle biopsy reveals specific changes (predominance of hypotrophic type 1 fibers; the latter are approximately 15% less than type 2 fibers). ENMG study allows us to identify both myopathic and neurogenic patterns of pathological changes. CPK activity in the blood is normal or moderately increased.

Congenital myopathy

Congenital myopathy is a congenital disease caused by genetically determined disorders in the structure of muscle tissue. Congenital myopathy is manifested by diffuse muscle weakness and decreased muscle tone, the severity of which varies significantly depending on the type of myopathy. In severe cases, congenital myopathy can lead to the death of a child from respiratory failure. Congenital myopathy is diagnosed mainly based on the results of morphological examination of samples obtained from muscle biopsy; electromyography, ergometry and muscle tone studies are only of auxiliary value. Congenital myopathy may require measures to combat respiratory disorders, provide tube feeding, correct existing orthopedic deformities, etc.

Congenital myopathy

The term “congenital myopathy” is used in neurology to refer to a whole group of fairly rare hereditary diseases that have a similar clinical picture and are differentiated only by specific morphological changes in the structure of muscle tissue. The most common types of congenital myopathy include central core disease, nemaline myopathy, myotubular myopathy, multiple core myopathy, and congenital muscle fiber type disproportion.

Congenital myopathy is a genetically determined disease. Depending on the type of myopathy, the anomaly can be localized in various chromosomal loci and be inherited dominantly, recessively, or linked to the X chromosome. The presence of an abnormal gene leads to a disruption in the synthesis of one or another protein that is part of the structure of muscle tissue. As a result, the structure of muscle fibers changes, which negatively affects their contractility and leads to generalized muscle weakness. Typically, congenital myopathy manifests itself in early childhood. Its symptoms persist throughout the patient's life. In most cases, congenital myopathy is characterized by a benign course with little or no progression.

Classification of congenital myopathy

The classification of congenital myopathy was based on 2 characteristics: the presence of information about the location of the gene abnormality and information about which muscle tissue protein is defective. In accordance with this, congenital myopathy with a known mutant gene and a certain defective protein is distinguished (nemaline myopathy, central core disease, myotubular myopathy), congenital myopathy with an unknown defective protein, but an established mutant gene (desmin-related and actin-dependent myopathies) and congenital myopathy, for which both the gene and the defective protein remain unknown (congenital fiber type disproportion, centronuclear myopathy, multiple core myopathy).

Symptoms of congenital myopathy

Congenital myopathy in the first months of a child’s life is characterized by the presence of the “flaccid baby” syndrome: a diffuse decrease in muscle tone, mild muscle weakness, poor muscle development and weakened sucking. As the child develops, muscle weakness becomes more noticeable. It is manifested by the inability to get up from the floor, climb onto a chair, difficulty walking and other actions that other children of the same age can perform without problems. Muscle weakness in congenital myopathy can be expressed to varying degrees. Usually there is no significant progression. In severe cases, the child is never able to stand on his feet and is forced to move around on a gurney all his life. But the skills that he acquired are no longer lost.

The greatest danger of congenital myopathy is associated with weakness of the respiratory muscles. With moderate muscle weakness, there is a gradual development of respiratory failure, frequent bronchopulmonary diseases (bronchitis, focal pneumonia, congestive pneumonia, etc.). Severe weakness of the respiratory muscles can lead to the rapid development of respiratory failure and death of the child in infancy.

In some cases, congenital myopathy is combined with dysmorphic features (high palate, long and narrow face) and skeletal abnormalities (kyphosis, scoliosis, clubfoot, cobbler's chest, congenital hip dislocation).

Characteristics of certain types of congenital myopathy

Central core disease is inherited in an autosomal dominant manner; isolated sporadic cases of the disease are also known. Congenital myopathy of this type is manifested by delayed motor development during the first year of life, is less often found in adult patients, and is often accompanied by weakness of facial muscles. The patients are characterized by their small stature and fragile figure, and the presence of skeletal deformities. Patients with this type of congenital myopathy have an increased risk of malignant hyperthermia. A biopsy of muscle tissue reveals muscle fibers with single or multiple zones of aseptic necrosis.

Nemaline congenital myopathy includes actinopathy, nebulinopathy, tropomyosinopathy and troponinopathy. Its inheritance occurs most often according to an autosomal dominant principle, but recessive inheritance and sporadic cases of incidence also occur. The classic form of nemaline congenital myopathy is characterized by floppy baby syndrome. The severe form manifests itself in the prenatal period in the form of fetal akinesia, and at the birth of a child - severe motor impairment, weakness of the facial muscles and respiratory failure. A mild form of this type of congenital myopathy is diagnosed after early childhood, sometimes in adolescence, and occurs without weakness of the facial muscles. There is also a specific form of nemaline congenital myopathy, in which the development of ophthalmoplegia, cardiomyopathy, and rigid spine syndrome is possible. Morphological examination reveals the presence of characteristic rod- or thread-like bodies in the muscles.

Myotubular congenital myopathy is most often inherited as an autosomal one, in which muscle weakness is mild and can be observed in both girls and boys. X-linked myotubular congenital myopathy affects only males and is characterized by a more severe course with weakness of the facial muscles, swallowing and respiratory problems. In the muscle tissue biopsy, damage to type I fibers predominates. The central location of the myocyte nuclei is noted, which corresponds to the muscle tissue of the embryo at 8-10 weeks of pregnancy. In this regard, most researchers consider myotubular myopathy as a result of underdevelopment of muscle tissue.

Multiple core myopathy is most often observed as an autosomal recessive disease, although a dominant mode of inheritance is also possible. Muscle weakness in the proximal parts is typical, which is observed in infancy. Much less often, the disease debuts at an older age. In such cases, generalized muscle weakness is noted. In a muscle biopsy, cells with the absence of mitochondria, destruction of sacromeres and wasting of muscle fibers are determined.

Congenital disproportion of muscle fiber types is manifested by generalized muscle weakness, including facial muscles, muscle hypotonia, and skeletal abnormalities. The mode of inheritance of this congenital myopathy has not yet been established. In muscle biopsy, an increase in the number and small size of type I fibers is observed against the background of hypertrophy or normal size of type II fibers.

Diagnosis of congenital myopathy

In mild cases, only a targeted examination with a study of muscle strength and tone allows the neurologist to suspect the presence of congenital myopathy in the child. A thorough examination of the muscles with strength testing (ergometry), standard and stimulation electromyography, myotonometry or electrotonometry provides additional data supporting the diagnosis of congenital myopathy. Generalized inflammatory myopathy (dermatomyositis, polymyositis) and diffuse myositis can be excluded by the absence of pain, induration and inflammatory swelling of the muscles.

Congenital myopathy can be definitively diagnosed only after the results of a morphological study of muscle tissue obtained by muscle biopsy. Only this examination allows us to determine changes specific to each type of myopathy and establish an accurate diagnosis. However, even a biopsy does not always reliably verify the type of congenital myopathy.

Treatment of congenital myopathy

Unfortunately, today there are no sufficiently effective treatment methods and congenital myopathy retains its manifestations throughout the patient’s life. Possible therapies are aimed at maintaining the highest possible level of patient vitality. If congenital myopathy is accompanied by a significant decrease in muscle strength, in the first months of life medical measures consist of combating respiratory failure, providing nutrition through a gastric tube, and relieving bronchopulmonary complications. Massage, hydrotherapy and physiotherapeutic procedures have a beneficial effect on the condition of patients at any age. At an older age, orthopedic correction of existing disorders and social adaptation of patients may be required.

Myopathy in children

Myopathy is a primary dystrophic muscle lesion, characterized by muscle weakness, changes in gait, muscle atrophy, and decreased muscle tone. This pathology occurs due to a genetic predisposition as a result of hormonal imbalance.

Causes

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. It 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 the developing weakness and atrophy of individual muscles. Further, the dystrophic process spreads to increasingly larger areas of muscle tissue. This leads to paralysis. The muscles most commonly damaged are the pelvic area, the 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, muscle tone and strength will decrease, and 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;
amyotrophy;
decreased muscle tone;
rachiocampsis;
paralysis;
weakness;
respiratory failure;
cardiomyopathy;
headache;
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;
rachiocampsis;
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 of a sedentary lifestyle.

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 the muscle weakness is;
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, and 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, it is necessary to adhere to a healthy lifestyle, visit doctors during pregnancy, and lead an active lifestyle. Don't forget about taking vitamins.

Congenital myopathy in children: what you need to know

The article describes the types of congenital myopathy in children. Their differential diagnosis is carried out, research methods are presented, and a tentative prognosis is made.

Congenital myopathy is a neuromuscular disease caused by mutations in genes that are responsible for the formation of a particular protein found in muscle tissue. As a result of disruption of protein metabolism, the muscle fiber loses its ability to contract, restriction of movements occurs, and subsequently complete muscle atrophy.

Causes of congenital myopathy

The etiology of the disease is not fully understood. Congenital myopathies are formed in the womb and manifest themselves in the neonatal period.

In the first months of a child’s life, lethargy, passivity, weak sucking, and fatigue are noted. After 6 months – difficulties when trying to sit or stand on your feet. The child lags behind his peers in physical development. In some cases, immobility is observed already in the first year.

In some types, pathologies of other body systems are associated:

mental sphere – mental retardation, mental retardation;
cardiovascular and respiratory systems – cardiac and respiratory failure, posing a threat to life;
skeletal system - specific facial structure (high palate), spinal deformities (scoliosis, kyphosis), congenital hip dislocation.

Types of myopathy and its symptoms

Varieties of the disease differ in the type of inheritance, the location of the altered genes and the type of defective proteins. There are 2 pathological groups:

muscular dystrophy – dysfunction of muscle fibers caused by a defect in the proteins contained in their composition;
structural myopathies - changes in muscle structure caused by impaired protein synthesis during the formation of the embryo.

The classification of congenital myopathies is presented in the table.

Types of congenital myopathies

Congenital muscular dystrophies

Congenital structural dystrophies

Central core disease

Bone changes come to the fore

With a disproportion of muscle fiber types

Common symptoms include underdevelopment of the brain

With multiple central bars

Let's look at some forms in more detail.

Central core disease

In the first year of life, the child lags behind in physical development, and decreased muscle tone is observed. These symptoms are classified as other pathologies of early childhood, so the diagnosis is made when the clinical picture is severe in older children, when there is muscle weakness, limitations in movement and bone deformities. Characterized by a frail figure and small stature. Patients may retain some motor ability. With this form, the development of malignant hyperthermia is possible.

The severe form is diagnosed in utero and after childbirth with gross skeletal deformities, hypotonia of facial muscles and respiratory failure, often leading to death.

The mild form is detected after three years, even in adolescents, without the above-mentioned symptoms. In some cases, the disease can progress slowly, in others it can be sluggish.

There are varieties of this form, including cardiomyopathy, ophthalmoplegia, and spinal pathology.

With a disproportion of muscle fiber types

Generalized hypotension and skeletal deformities are noted.

With multiple central bars

Infants experience severe muscle weakness in the limbs. In older children, hypotension is generalized.

Occurs in children of both sexes, symptoms are mild. An X-linked variety has been identified, which occurs only in boys. It progresses severely, with severe atrophy, impaired swallowing and breathing.

The most common variety is with an early onset, from birth. It is characterized by a triad: respiratory failure, hypotension and skeletal disorders. Mental retardation and eye pathology may also occur. The course is unfavorable and leads to complete disability.

Diagnosis of myopathy

Diagnosis of congenital myopathies relies on a biopsy of muscle tissue. For different types, a biopsy shows:

lack of oxidative enzymes in muscle fibers (central core disease);
rod-like or thread-like nemaline bodies (nemaline myopia);
multiple type I muscle fibers are reduced in size while type II fibers are enlarged or normal in size (myopia with a disproportion of muscle fiber types);
cells without mitochondria, with a violation of the structure of myofibrils (myopia with multiple central rods);
the nuclei in the muscle fibers are located centrally, which is identical to the state of the myofibrils in an 8-10 week old fetus and confirms muscle underdevelopment (myotubular).

Other examination methods complement the diagnosis:

electromyographic study (shows a decrease in the voltage of the EMG curve),
biochemical study (detects increased levels of aldolase and creatine kinase),
medical examination.

Treatment of myopathy and prognosis

Since the etiology of the disease is unknown, treatment is only symptomatic, aimed at maintaining the patient's vitality and preventing disability.

Drug therapy includes drugs that improve metabolism, strengthen, and normalize redox processes in muscle tissue. For mental disorders, medications that improve brain function. If cardiac and pulmonary failure occurs, urgent placement of the patient in intensive care is indicated.

Massage, exercise therapy, and physiotherapy are mandatory.

The prognosis depends on the form of myopathy, time of occurrence, and complications.

Myopathy in children

Myopathy is a disease that is characterized by sluggish progressive dystrophic changes in muscle tissue in children. Another name for myopathy is progressive muscular dystrophy. In most cases, myopathy is hereditary. The pathology occurs in children of any age. Myopathy is an uncommon disease in childhood.

Causes of myopathy in children:

The etiological factors that lead to the development of muscular dystrophy in a child are not fully understood. Modern research has proven that the disease is most often caused by the following reasons:

Injuries. May be the impetus for the onset of development of a pathological process in the muscles

Exhaustion of various types

Metabolic disorders in the body, especially creatinine and creatine

Pathological changes in the thyroid gland

Disorders of sympathetic innervation. This is due to the predominant atrophy of the muscles of the limbs in children.

Clinical manifestations of the disease:

Pathological processes begin to manifest themselves in childhood and adolescence. The disease always progresses slowly and gradually. For a long time, all clinical symptoms remain unnoticeable, since children, during activity, begin to use healthy muscle groups, compensating for the insufficiency of the affected areas. Over time, symptoms increase and the child’s condition worsens.

Upper body

Limited active movements

Violation of the child's body position

The child falls even from a slight push

Feeling tired quickly while running or walking

Children have difficulty climbing stairs

It is extremely difficult for a child to sit up from a lying position. The baby is forced to roll over on his stomach, stand on all fours, straighten his knees, lean on his palms and feet, climbing his legs with his hands, and stand on his feet. This sign is one of the most typical for myopathy. It is used as the main diagnostic test

Swaying the pelvis while walking - “duck” gait

Flat chest

Transverse constriction of the child’s torso - “wasp waist”

Shoulder blades resemble wings

Shoulders drop down and forward

Lack of fixation of the shoulder girdle muscles: when grabbing a sick child in the armpits and trying to lift him up, the shoulder girdles rise and the head falls between them

“false” hypertrophy of some muscles. An increase in its size occurs only due to fat deposits and the proliferation of connective tissue

“false” muscle hypertrophy mainly in the lower legs

The child's legs are shaped like a bottle: thin thighs, thick calves. This is a characteristic sign of myopathy

The eyelids do not completely cover the child's eyes

Weak facial expressions

“transverse smile” - the corners of the lips do not rise upward

Mydriasis - dilated pupils

Marbling and bluishness of the skin

Uneven deposition of fat on the body

Enlarged thyroid gland

Increased concentration of creatine in urine

Decreased amount of creatinine released

Increased concentration of ammonia in urine

Increased blood levels of lactic acid and phosphorus

Common forms of the disease:

The pathology may be accompanied by certain features in accordance with the form of myopathy. The most common are the following:

Features of disease diagnosis:

Making the correct diagnosis is not difficult. Main diagnostic signs:

Combination of atrophy and hypertrophy of muscle tissue

Selective damage to the muscles of the pelvis, shoulder girdle, and limbs

Signs of a "duck" gait

The special process of getting a child up from a lying position

No neurological disorders

Disease prognosis:

More often than not, there is no threat to life. The only exceptions are those forms of the disease that are accompanied by atrophy of the respiratory and cardiac muscles.

Suicide attempts among teenagers due to their helpless state

Death due to asphyxia and suffocation due to damage to the respiratory muscles

Principles of treatment of myopathy:

The earlier treatment of the disease is started, the greater the chance of normalization of the child’s condition. The main means and methods are as follows:

ATP in injection form. About 5 courses of injections are carried out

Vitamin E in injection form

B vitamins

Insulin with glucose

Agents that improve blood circulation and conductivity of neuromuscular fibers - Cerebrolysin, Ceraxon

Hormones that have an anabolic effect - nerobol

Uses of glutamic acid

Administration of anticholinesterase drugs - proserin, neuromidin

Administration of drugs using electrophoresis

Congenital myopathy

RCHR (Republican Center for Health Development of the Ministry of Health of the Republic of Kazakhstan)

Version: Archive - Clinical protocols of the Ministry of Health of the Republic of Kazakhstan (Order No. 239)

general information

Short description

Congenital myopathies are a group of diseases that manifest themselves from birth or in early childhood by decreased muscle strength, hypotonia, weakened or absent tendon reflexes. They differ from progressive muscular dystrophies in their benign course. In some cases, symptoms of muscle system deficiency remain stable throughout life, sometimes progressing slightly, perhaps even regressively.

It is extremely difficult to recognize these diseases from the clinical picture; almost all patients have muscle weakness, which can be generalized or predominate in the proximal limbs and the muscles of the shoulder and pelvic girdle, there is diffuse muscle wasting and hypotension, tendon reflexes are sharply reduced or absent, sometimes developing contractures.

When the disorder is severe, a diagnosis of “floppy baby” is usually made.

Congenital muscular dystrophy is a muscle disease that is present at birth or occurs shortly after birth. Diagnosis of these diseases can be based on the following criteria:

Hypotonia, weakness, or arthrogryposis presents from birth;

Muscle biopsy reveals signs of myopathy (changes in fiber size, degeneration of medium-sized fibers, replacement of muscle fibers with adipose tissue and collagen) and excludes denervation;

Other forms of myopathy with specific clinical signs in newborns are excluded.

Congenital muscular dystrophy:

With specific morphological lesions of muscle fiber.

Disproportion of fiber types

Neraspberry (nemaline body disease).

Classification

1. Congenital myopathies.

2. Disease of the central core.

3. Congenital myopathy with disproportion of fiber types.

4. Myotubular (centronuclear) myopathy.

5. Acute myotubular myopathy.

6. Chronic myotubular myopathy.

7. Nemaline myopathy.

Diagnostics

Complaints and medical history: the disease manifests itself from birth or in early childhood; delay in motor development, malnutrition, muscle weakness, decreased tone and muscle strength, gait disturbance.

Central core disease

It is inherited in an autosomal dominant manner and is characterized by specific morphological changes in which the muscle fibers in the central part have areas filled with compact myofibrils - “rods”. The diameter of the fibers remains the same, sometimes it is even slightly increased.

The clinical picture is characterized by more or less significant muscle weakness, predominant in the proximal extremities, especially the lower ones, and diffuse muscle hypotonia.

Typically there is a delay in motor development with normal intelligence. Muscle atrophy is moderately expressed, tendon reflexes are preserved or slightly reduced.

The disease, as a rule, does not progress; symptoms may regress by puberty. Life expectancy is not limited. There are subclinical forms.

Central core disease (myotubular myopathy)

Types of inheritance: autosomal dominant, autosomal recessive, recessive, X-linked. These circumstances indicate the genetic heterogeneity of myotubular myopathy. Morphological changes in myotubular myopathy are characterized by a decrease in the diameter of muscle fibers. In the center of these small fibers, myofibrils are absent or very loosely packed.

Histochemical reactions reveal high activity of oxidative enzymes in the central areas. The altered muscle fibers in the center closely resemble embryonic muscle cells or myotubules. In this regard, the disease is called mitubular myopathy. Its other name is centronuclear, which is due to the accumulation of a group of nuclei in the central part of the muscle fiber.

The clinic is characterized by generalized muscle hypotonia, weakness of the oculomotor muscles (bilateral moderate ptosis, paresis of the external muscles of the eye), and moderate bone deformities.

The course of the disease is often stationary, but there may be regression of symptoms or with mild progression. In most cases, clinical symptoms are noted from the first days of life, but sometimes they appear for the first time in adults.

Myopathy with congenital fiber type imbalance

Muscle fibers are divided into two types: type I - red fibers, type II - white. Recently, type II is divided into II A and II B types. Normally, types I and II are the same size; their ratio is not the same in different muscle groups, but this difference is quite constant. When studying congenital forms of myopathies with the clinical picture of “floppy baby”, it was shown that in some patients, pathological examination reveals a single defect - a decrease in the size of type I muscle fibers and their predominance, and the preservation of the increase in the size of type II fibers.

Sometimes there is hypertrophy of type II A and absence of type II B fibers. No other specific changes are detected. The clinical picture is characterized by generalized weakness, hypotension, including the respiratory muscles. In half of the cases, muscle contractures of varying severity are noted.

The term congenital fiber type disproportion myopathy is used to describe newborns with hypotonia and sometimes arthrogryposis.

Nemaline (thread-like) myopathy is the most common form. The pathology consists of the presence of thread-like structures along the entire length of the affected muscle cells. The disease is transmitted both in an autosomal recessive and autosomal dominant manner. Mostly familial cases of the disease, but increasingly sporadic cases.

The clinic is manifested by diffuse muscle weakness, including facial muscles, which is noted from birth. Weakness may extend to the respiratory muscles.

The severity of the condition varies widely - from very mild to severe weakness with malnutrition leading to disability. Patients are lagging behind in motor development, later they begin to sit and walk. A characteristic combination of muscle symptoms with dysplastic changes in the skeleton in the form of an elongated shape of the facial skull, retrognathia of the “Gothic palate”, deformation of the chest and spine.

A biochemical study reveals a slight increase in the activity of creatine phosphokinase in the blood serum.

Mitochondrial myopathies are a group of myopathies in which the specific and only morphological disorder is mitochondrial pathology. Inherited in an autosomal recessive manner. This group of myopathies is heterogeneous because it is represented by different types of mitochondrial disorders.

With mitochondrial myopathies, morphologically there may be an increase in the number of mitochondria (pleoconial myopathy), an increase in their size (megaconial myopathy), irregular placement of cristae, and the presence of various inclusions.

Pleoconial myopathy is characterized by episodic attacks, starting with thirst, vomiting, severe need for salt, and profuse sweating. Muscle weakness develops up to flaccid tetraplegia with the absence of tendon reflexes. Speech and swallowing are also impaired. The attack lasts for days. Severe muscle weakness is observed from birth, and may even decrease somewhat with age. A morphological study revealed gigantic mitochondria in the muscle fibers.

Ileoconial myopathy is characterized by slowly progressive weakness and wasting of the muscles of the proximal limbs. A distinctive feature of the disease was the presence of attacks of increased muscle weakness to the state of paralysis. Such attacks lasted from 10 to 14 days each time, and there was a need to take large amounts of table salt. A morphological study of muscle biopsy revealed a huge number of medium-sized mitochondria. Clusters of mitochondria replaced the myofibrillar apparatus and were located in the perinuclear regions.

Congenital muscular dystrophy - hypotonia and arthrogryposis are determined from birth. Tendon reflexes are either intact or absent, but joint contractures can make them difficult to assess. Congenital contractures can involve a variety of joints, but most often result in torticollis and clubfoot. A characteristic symptom is congenital dislocation of the hip.

Laboratory tests: possible increase in serum CPK levels.

1. Computed tomography of the brain to exclude organic damage.

2. Electroencephalography (EEG) - EEG changes are nonspecific.

3. Electromyography (EMG) - reveals a primary muscle defect, a decrease in the EMG amplitude of maximum voltage, the duration of motor unit potentials is reduced, an increase in the number of polyphasic potentials without increasing their duration, sometimes the EMG is of a mixed type.

4. Magnetic resonance imaging (MRI) of the brain is currently the method of choice for diagnosing defects and anomalies and degenerative changes in the brain.

5. Neurosonography - reveals the presence of structural changes, expansion of the ventricular system, defects and dysgenesis before the fontanelle closes.

6. ECG - changes indicating metabolic-dystrophic changes in the myocardium.

Indications for specialist consultations:

1. Speech therapist - to identify speech disorders, dysarthria.

2. Psychologist - to determine the child’s mental status.

3. Orthopedist - to identify contractures and bone deformities.

4. Prosthetist - to select orthopedic shoes that fix the splint.

5. Oculist - examination of the fundus, identification of strabismus, visual impairment.

6. Cardiologist - identifying metabolic-dystrophic and dysplastic changes in the heart.

7. ENT-audiologist - to determine hearing loss.

Minimum examination when referred to a hospital:

1. General blood test.

2. General urine analysis.

3. Feces on worm eggs.

Basic diagnostic measures:

1. General blood test.

2. General urine analysis.

10. Electromyography (EMG).

14. Determination of creatine kinase in blood serum.

List of additional diagnostic measures:

1. Computed tomography of the brain.

Causes of congenital myopathy

The etiology of the disease is not fully understood. Congenital myopathies are formed in the womb and manifest themselves in the neonatal period.

In the first months of a child’s life, lethargy, passivity, weak sucking, and fatigue are noted. After 6 months - difficulties when trying to sit or stand on your legs. The child lags behind his peers in physical development. In some cases, immobility is observed already in the first year.

In some types, pathologies of other body systems are associated:

mental sphere - mental retardation, mental retardation;
cardiovascular and respiratory systems - cardiac and respiratory failure, posing a threat to life;
skeletal system - specific facial structure (high palate), spinal deformities (scoliosis, kyphosis), congenital hip dislocation.

Types of myopathy and its symptoms

Varieties of the disease differ in the type of inheritance, the location of the altered genes and the type of defective proteins. There are 2 pathological groups:

muscular dystrophy - dysfunction of muscle fibers caused by a defect in the proteins contained in their composition;
structural myopathies - changes in muscle structure caused by impaired protein synthesis during the formation of the embryo.

The classification of congenital myopathies is presented in the table.

Types of congenital myopathies
Congenital muscular dystrophies		Congenital structural dystrophies
Merozin - negative	Merozin - positive	Central core disease
	Bone changes come to the fore	Nemalinovaya
		With a disproportion of muscle fiber types
Common symptoms include underdevelopment of the brain		With multiple central bars
		Myotubular
		Centronuclear

Let's look at some forms in more detail.

Central core disease

In the first year Throughout life, the child lags behind in physical development, and decreased muscle tone is observed. These symptoms are classified as other pathologies of early childhood, so the diagnosis is made when the clinical picture is severe in older children, when there is muscle weakness, limitations in movement and bone deformities. Characterized by a frail figure and small stature. Patients may retain some motor ability. With this form, the development of malignant hyperthermia is possible.

Nemalinovaya

The severe form is diagnosed in utero and after childbirth with gross skeletal deformities, hypotonia of facial muscles and respiratory failure, often leading to death.

The mild form is detected after three years, even in adolescents, without the above-mentioned symptoms. In some cases, the disease can progress slowly, in others it can be sluggish.

There are varieties of this form, including cardiomyopathy, ophthalmoplegia, and spinal pathology.

With a disproportion of muscle fiber types

Generalized hypotension and skeletal deformities are noted.

With multiple central bars

Infants experience severe muscle weakness in the limbs. In older children, hypotension is generalized.

Myotubular

Centronuclear

Diagnosis of myopathy

Diagnosis of congenital myopathies relies on a biopsy of muscle tissue. For different types, a biopsy shows:

lack of oxidative enzymes in muscle fibers (central core disease);
rod-like or thread-like nemaline bodies (nemaline myopia);
multiple type I muscle fibers are reduced in size while type II fibers are enlarged or normal in size (myopia with a disproportion of muscle fiber types);
cells without mitochondria, with a violation of the structure of myofibrils (myopia with multiple central rods);
the nuclei in the muscle fibers are located centrally, which is identical to the state of the myofibrils in an 8-10 week old fetus and confirms muscle underdevelopment (myotubular).

Other examination methods complement the diagnosis:

electromyographic study (shows a decrease in the voltage of the EMG curve),
biochemical study (detects increased levels of aldolase and creatine kinase),
medical examination.

Treatment of myopathy and prognosis

Since the etiology of the disease is unknown, treatment is only symptomatic, aimed at maintaining the patient's vitality and preventing disability.

Massage, exercise therapy, and physiotherapy are mandatory.

The prognosis depends on the form of myopathy, time of occurrence, and complications.

Alina Veyts, psychoneurologist, candidate of psychological sciences, especially for the site

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 animal nervous system itself continues to maintain its functionality.

Causes

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 up.

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;

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. It is expressed by atrophy of the thigh muscles. The disease also affects the muscles in the pelvic girdle. Characteristic signs of the pathology are a “duck” gait and cessation of the functioning of the oral muscles.
Myopathy. With it, muscle mass increases significantly, 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 identified through a comprehensive examination of the 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

A complete treatment for myopathy has not yet been 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, anabolic steroids (nandrolone decanoate), and thiamine pyrophosphate are indicated. 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. Individual exercises are selected for them as part of 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 allowed in Europe in 2014.

Prognosis for the disease and its prevention

Since no radical means have yet been developed to treat 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 can be 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.

A characteristic feature of the disease is metabolic disorders in skeletal muscle tissue. The muscles of a sick child lose their function partially or entirely, that is, weakness appears in them and the range of movements decreases. The quality of life is significantly reduced. Source: Komantsev V.N., Skripchenko N.V., Sosina E.S., Klimkin A.V. POLYNEUROPATHY AND MYOPATHY OF CRITICAL CONDITIONS IN ADULTS AND CHILDREN: DIAGNOSIS, CLINICAL MANIFESTATIONS, PROGNOSIS, TREATMENT // Modern problems of science and education. – 2012. – No. 5

This pathology usually has a hereditary form and can be diagnosed in children of any age.. It is not life-threatening, except in cases where atrophy of the heart muscle and respiratory muscles occurs. Source:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796972/
Chris M. Jay, Nick Levonyak, Gregory Nemunaitis, Phillip B. Maples and John Nemunaitis
Hereditary Inclusion Body Myopathy (HIBM2) Gene Regul Syst Bio. 2009; 3: 181–190.

The disease has a number of complications:

development of respiratory failure;
limited mobility;
paralysis;
congestive pneumonia;
depressive, suicidal mood of the patient;
increased risk of death.

Is it possible to prevent the disease?

If there have already been similar cases in the family, then you need to consult a doctor who will develop a plan of preventive measures.

Causes of myopathy in children:

hormonal imbalances;
heredity;
genetic defects (deficiency of an enzyme that ensures metabolic processes in muscles; defect of a cell that plays the most important role in the delivery of energy material to the muscles); Source:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575512/
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia Hum Mutat. 2017 Aug; 38(8): 970–977.
systemic connective tissue lesions.

Symptoms and treatment of pathology in a child

Clinical signs of myopathy in children:

change in gait;
weakness that does not go away with rest;
delayed motor development;
flabby, flabby muscles;
atrophy (thinning) of muscles;
curvature of the spine is a manifestation indicating weakness of the muscular corset.

Negative processes manifest themselves in children in early and teenage years, but since myopathy develops slowly, it can go undetected for a long time. In addition, children are able to compensate for muscle deficiency by using other, healthy muscles more actively.

The most common changes are observed in the areas of the shoulders, legs, arms, pelvis, and chest. With this disease they are always bilateral and symmetrical.

As the disease progresses, movement disorders appear:

it is difficult for a child to sit up from a lying position;
movements are abnormal, “wrong”;
when walking and/or running, fatigue quickly sets in;
the child has difficulty maintaining balance and often falls;
It is difficult for a child to climb stairs.

Disturbances in appearance may also appear:

protruding ribs;
very thin, as if overtightened, waist;
flattened chest;
slouch;
Irregular shape of legs - thick calves and thin thighs.

Diagnosis of myopathy

The disease is expressed:

increasing symptoms;
absence of seizures and neurological manifestations;
selective localization;
characteristic "duck" gait.

For an accurate diagnosis, first of all, an anamnesis is collected to find out whether there have been cases of this disease in the family. Then an examination is carried out by a neurologist, during which the doctor evaluates muscle tone, the spread of weakness, the presence of muscle thinning, the degree of body deformation, the severity of reflexes, gait, and asks the child to sit up from a lying position and stand up from a sitting position.

Laboratory diagnostics include:

clinical blood test;
muscle biopsy;
checking thyroid hormone levels.

A genetic examination of the child and close relatives is also carried out. Source:
https://www.mda.org/disease/congenital-myopathies/diagnosis
The Muscular Dystrophy Association (MDA).

Types of disease

One of the classification features is cause of the disease. According to it, myopathy is distinguished:

primary (appears independently at birth, in early childhood or adolescence);
secondary (develops against the background of other diseases).

By location of weakness illness happens:

proximal (muscles are weakened closer to the body);
distal (muscles are weakened in the limbs further from the body);
mixed.

There are also the following forms of the disease:

Pseudohypertrophic (Duchenne-Griesinger). Appears at 3-6 years of age, rarely before one year. Mainly affects the muscles of the legs and pelvis. Associated lesions: weakness of the respiratory and cardiac muscles. There is a high probability of death even before adulthood.
Landouzy-Dejerine. Begins at 10-15 years of age and affects the face. The facial muscles weaken, the lips protrude and thicken, and often the patient cannot close his eyelids. Then the muscles are involved in a descending manner down to the shoulder girdle.
Erba-Rotta(youthful). The onset of the disease is 10-20 years, boys are mainly susceptible to this form. The processes take place from top to bottom or bottom to top, rarely throughout the entire body or in the face area.

Important! Congenital myopathy is one of the most dangerous forms in children, often resulting in death. Her treatment is limited to improving vitality and begins in the first months after birth. The main thing in therapy is the prevention of respiratory failure, the organization of tube feeding. As the child grows, orthopedic correction techniques are used, physiotherapy and social adaptation are of great importance.

Treatment methods

Important! The sooner you start treating a child, the greater his chances of a fairly high quality of life.

Treatment boils down to the following activities:

injection of adenosine triphosphoric acid (ATP) in courses;
iontophoresis;
vitaminization;
drugs to improve blood circulation;
massage;
use of orthopedic correction devices by patients;
the use of drugs for better neuromuscular conduction;
hormone therapy;
and etc.

The hereditary form of the disease cannot be completely cured, but it is possible to specifically eliminate the main symptoms by:

orthopedic correction;
regular and breathing exercises.

Sometimes surgery is required. It is aimed at correcting scoliosis that occurs against the background of the underlying disease.

Promising methods for treating myopathy are: the use of stem cells and gene therapy.

Advantages of contacting SM-Clinic

Our clinic employs some of the best pediatric neurologists in St. Petersburg, doctors of high categories with impressive experience. Your child will be able to undergo diagnostics using modern equipment, undergo laboratory tests without queues and in comfortable conditions. SM-Clinic specialists will develop an optimal treatment plan in a short time, taking into account the individual characteristics of the patient and the form of his disease.

Call us for additional questions and to schedule an appointment.

Sources:

Komantsev V.N., Skripchenko N.V., Sosina E.S., Klimkin A.V. Polyneuropathy and myopathy of critical conditions in adults and children: diagnosis, clinical manifestations, prognosis, treatment // Modern problems of science and education, 2012, No. 5.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796972/ Chris M. Jay, Nick Levonyak, Gregory Nemunaitis, Phillip B. Maples and John Nemunaitis Hereditary Inclusion Body Myopathy (HIBM2) Gene Regul Syst Bio. 2009; 3: 181–190.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575512/ Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli , Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani
https://www.mda.org/disease/congenital-myopathies/diagnosis The Muscular Dystrophy Association (MDA).

Pitsukha Svetlana Anatolevna
Clinic

The information in this article is provided for reference purposes and does not replace advice from a qualified professional. Don't self-medicate! At the first signs of illness, you should consult a doctor.

Prices

Name of service (price list is not complete)	Price
Appointment with a neurologist, therapeutic and diagnostic, primary, outpatient	1600 rub.
Consultation (interpretation) with analyzes from third parties	2250 rub.
Consultation with prescription of a treatment regimen (for up to 1 month)	1800 rub.
Consultation with prescription of a treatment regimen (for a period of more than 1 month)	2700 rub.
Consultation with a candidate of medical sciences	2500 rub.
Transcranial duplex scanning (TCDS) of cerebral vessels	3600 rub.
Electroencephalography	3100 rub.
MRI of the brain	4200 rub.
CT scan of the head (brain structure)	3300 rub.
Corporal acupuncture (session)	1200 rub.
Superficial acupuncture	1200 rub.

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- Archipenko Elena Yurievna
  
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