Muscular dystrophy: types, features, symptoms, diagnosis, treatment. Muscular dystrophy: symptoms, causes, diagnosis, treatment, recovery period and consequences for the body

Muscular dystrophy is a group chronic diseases muscle structures, mainly skeletal. For all progressive muscular dystrophies, a characteristic feature is gradually manifested muscle weakness, as well as their degeneration. As the disease progresses, a decrease in the diameter of muscle fibers is observed. As a result of dystrophy, the affected elements lose their ability to contract and gradually disintegrate. Their place in the body of a sick person is taken by connective and adipose tissue.

Clinicians identify only nine varieties of this pathological condition, which have significant differences depending on the aggressiveness of development, basic characteristics, localization of the affected fibers, as well as age indicators.

Etiology

Scientists have not yet been able to find out exactly real reasons, which trigger pathological mechanisms that provoke pathology. But it is already known for sure that the basis of all the causes of this pathological condition are mutations of the autosomal dominant genome, the main function of which is the synthesis and regeneration in the human body of a specific protein responsible for the full formation of muscle fibers.

Depending on which chromosome in the human genetic code was subject to the mutation process, the location of the disease will develop:

• In most clinical situations, the X chromosome in the human genome undergoes mutation. In this case, Duchenne muscular dystrophy begins to progress. It is this form of the disease that is most often diagnosed. It is noteworthy that if a representative of the fair sex has a defective chromosome in her genome, then there is a high probability that she will pass it on to her descendants. But it also happens that she will not show any symptoms of the disease at all;
• the cause of the motonic variety of the disease is the formation of an abnormal genome related to chromosome 19;
• Separately, it is worth highlighting muscle underdevelopment, which is completely unrelated to abnormalities in the sex chromosome. This group includes 2 types of disease: shoulder-scapula-face, lower back-limbs.

Varieties

Clinicians identify several of the most common forms of the disease.

Duchenne muscular dystrophy. This variety is also called pseudohypertrophic in the medical literature. Typically, Duchenne muscular dystrophy begins to progress in childhood. It is noteworthy that little boys are more susceptible to this disease than girls.

Symptoms of Duchenne muscular dystrophy appear in children as early as 2 to 5 years of age. Initially, the muscles of the legs and pelvic girdle are affected. But gradually the pathological process “moves” to the muscles of the upper body. Later, other muscle structures are also involved. It is noteworthy that the disease progresses rapidly, and by the average age of 12–15 years the patient completely loses the ability to move freely. The prognosis for this type of dystrophy is not favorable - many people die before they even reach the age of 20.

Steinert's disease. This type of pathology is typical for adults from age category from 20 to 40 years. There are rare cases when pathology manifests itself already in infancy. Dystrophy has no restrictions regarding gender. Characterized by slow progression.

Dystrophy of this type has its own characteristic feature - the pathological process affects not only the skeletal muscles, but also the structures of vital organs. The patient may experience weakness of the facial muscles. It is worth noting that damage to other muscle groups is also possible. Characteristic is the slow relaxation of the fibers after their preliminary contraction.

Becker's progressive muscular dystrophy. This type of pathology is rare. The pathological process progresses quite slowly. Becker's progressive muscular dystrophy is usually diagnosed in people with short stature. The prognosis of the disease is favorable. For many years, people with this diagnosis maintain their ability to work, and their condition remains satisfactory. Injuries of varying severity, as well as concomitant diseases, contribute to disability.

Erb-Roth juvenile muscular dystrophy. The period of manifestation of its symptoms is from 10 to 20 years. Progresses slowly. At the initial stages of development, atrophy of the fibers of the arms and shoulders is noted, and later – of the legs and pelvis. While walking, you can notice a change in a person’s posture - the chest moves slightly back, while the stomach protrudes forward. The patient walks and waddles.

Landouzy-Dejerine muscular dystrophy. Symptoms of the disease appear between the ages of 6 and 52 years. Most often, signs of Landouzy-Dejerine dystrophy are detected in the period from 10 to 15 years. With this disease, the muscles of the face are primarily affected. But gradually, with Landouzy-Dejerine dystrophy, the pathological process also covers the muscle structures of the limbs and torso.

The first symptom of the development of the disease is incomplete closure of the eyelids. Gradually, the lips stop closing completely, which causes a violation of diction. Landouzy-Dejerine pathology in patients proceeds quite slowly. The patient retains the ability to move for a long time, so he can lead a normal life. On average, after 20–25 years, atrophy of the muscles of the pelvic girdle is possible, which becomes the cause of disability. In general, we can say that Landouzy-Dejerine dystrophy proceeds favorably.

Symptoms

Various forms of dystrophy (Landouzy-Dejerine, Duchenne, Becker, etc.) have their own characteristic signs of progression. But there is also a group of symptoms that are characteristic of any type of pathology:

• absence of pain syndrome;
• gradual decrease in muscle fiber tone;
• sensitivity in the affected areas does not decrease;
• skeletal muscles gradually atrophy;
• change in gait;
• frequent falls due to weakness of the leg muscles;
• constant fatigue;
• a characteristic symptom of the progression of the disease is a change in muscle size;
• Muscular dystrophy in children is manifested by a gradual loss of physical strength. skills that they had already developed before the pathology progressed.

Diagnostics

Diagnosis of muscular dystrophy in children and adults includes the following activities:

• careful history taking;
• electromyography;
• taking a small section of muscle fiber for microscopic examination;
• additional consultation with an orthopedist and therapist.

Complications

• cardiac dysfunction;
• spinal column deformity;
• decreased intelligence, memory functions;
• decreased ability to perform active movements and gradual disability;
• progression of respiratory system pathologies;
• death ( medical statistics is that this disease rarely causes death).

Therapeutic measures

It is worth immediately noting that muscular dystrophy cannot be completely cured. No such drug or procedure has yet been created that could restore the affected areas of muscle fibers. Treatment of muscular dystrophy is primarily aimed at inhibiting the active development of dystrophy processes in muscle structures. For this purpose, the patient is prescribed corticosteroids, vitamins, ATP, etc.

Additionally prescribed:

• massotherapy;
• physiotherapy;
• breathing exercises;
• carry out prevention of progression.

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Diseases with similar symptoms:

Friedreich's ataxia is a genetic pathology in which there is damage not only nervous system, but also the development of extraneural disorders. The disease is considered quite common - 2–7 people per 100 thousand of the population live with this diagnosis.

A chronic disease of hereditary origin, expressed by degeneration of the muscles that support the bone frame of the skeleton, is muscular dystrophy.

Medicine classifies nine varieties of this pathology, differing in the location of the disorder, its characteristics, aggressiveness of progression, and the age of the patient (how old the patient was when the first symptoms of the pathology began to appear).

Causes of muscular dystrophy

Today, medicine cannot name all the mechanisms that trigger the process leading to muscular dystrophy. We can only say with certainty that all causes of muscular dystrophy are based on mutations of the autosomal dominant genome, which is responsible in our body for the synthesis and regeneration of protein, which is involved in the formation of muscle tissue.

Depending on which of the chromosomes in the human code has undergone mutation and depends on which localization pathology we will receive in practice:

• Mutation of the sex X chromosome leads to the most common type of pathology, Duchenne muscular dystrophy. If a woman is a carrier of this chromosome, she often passes it on to her descendants. At the same time, she herself may not suffer from such violations.
• Motonic muscular dystrophy occurs when a gene belonging to the nineteenth chromosome becomes defective.
• The localization of muscle underdevelopment does not depend on the pathology of the sex chromosome: lower back - limbs, as well as shoulder - scapula - face.

Symptoms of muscular dystrophy

Symptoms of muscular dystrophy have a complex of basic, basic manifestations, but depending on the location and characteristics of the pathology, they also have their own distinctive features.

• Due to a lack of muscle mass in the legs, disturbances in a person’s gait are observed.
• Muscle tone decreases.
• Skeletal muscles atrophy.
• The motor abilities that the patient acquired before the disease began to progress are lost: the patient stops holding his head up, walking, sitting, and loses other skills.
• Muscle pain is dulled, but sensitivity does not disappear.
• A decrease in general vitality, the patient begins to get tired very quickly.
• Muscle fibers begin to be replaced by connective tissue, which leads to an increase in the volume of the muscles themselves. This is especially noticeable in the calf section.
• Learning difficulties appear.
• Falls are quite common.
• Difficulties arise when running and jumping.
• It becomes difficult for the patient to get up, both from a lying position and a sitting position.
• The gait of such a patient becomes waddling.
• There is a decline in intelligence.

Duchenne muscular dystrophy

Currently, Duchenne muscular dystrophy is the most commonly manifested type of this disease. The defect, “thanks to” which the weakness of the muscle tissue of this species develops, has been found and is a modified genome of the sex X chromosome. Often, a woman, without being sick herself, passes this defect on to her children. The first symptoms of the pathology in boys (for some reason, they are the ones who mostly suffer) who have received such a gene are detected already at the age of two to five years.

The first signs of the disease begin to appear in weakening the tone of the lower extremities, as well as the pelvic area. With further progression of the disease, atrophy of the muscle groups of the upper body is connected. Gradually, due to the degeneration of muscle fibers into connective fibers, the calf areas of the patient’s lower extremities increase in volume, and the size of adipose tissue also increases. The rate of development of this genetic disorder is quite high and by the age of 12 the child loses the ability to move at all. Often such patients do not live to see their twenties.

The weakening of the muscle tone of the lower extremities with the growth of the volume of the calf region leads to the fact that the child begins to initially experience discomfort when walking and running, and subsequently loses this ability completely. Gradually rising up and capturing everything large quantity muscle groups, at the terminal stage of Duchenne muscular dystrophy, the pathology begins to affect the complex of respiratory muscles, pharynx and face.

Pseudohypertrophy can progress not only in the calf region; it can also affect the areas of the buttocks, abdomen and tongue. With this pathology, damage to the heart muscles quite often occurs (the changes are similar to cardiomyopathy). The heart rhythm is disrupted, the tones become dull, and the heart itself increases in size. Cardiac muscular dystrophy is often the cause of patient death.

A characteristic symptomatology is that the patient also suffers from mental retardation. This is explained by lesions that also affect the cerebral hemispheres. As muscular dystrophy progresses, other concomitant diseases begin to appear. Such, for example, as: diffuse osteoporosis, diseases associated with endocrine insufficiency, deformation of the chest, spine...

Main hallmark pathology of the Duchenne type from other species is a high level of hyperenzymemia, which manifests itself already in the initial phase of development of the pathology.

Progressive muscular dystrophy

Most often, in the field of muscular-neurological diseases, primary progressive muscular dystrophy occurs, which is represented by a fairly broad classification. The difference between one form and another depends on the location of the gene mutation, the rate of progression, the age characteristics of the patient (at what age the pathology began to appear), whether pseudohypertrophy and other signs are present in the symptoms. Most of these muscular dystrophies (their symptoms), over almost a century-long history, have been studied quite well, but the pathogenesis is still not known, and, based on this, problems arise with high diagnostic reliability. Without knowing the causes of pathological changes, it is very difficult to carry out a fairly rational classification of progressive muscular dystrophy.

For the most part, division is carried out either according to the form of inheritance or according to clinical characteristics.

The primary form is damage to muscle tissue, in which peripheral nerves remain active. The secondary form is when the lesion begins from the nerve endings, without initially affecting the muscle layers of matter.

• Severe type of Duchenne pseudohypertrophy.
• A less common, less aggressive Becker type.
• Type Landouzi - Dezherina. Affects the shoulder-scapula-face area.
• Erb-Rota type. Adolescent form of the disease.

These are the main types of muscular dystrophy that are most often diagnosed. The remaining varieties are less common and are atypical. For example, such as:

• Dystrophy of Landouzi Dejerine.
• Emery Dreyfus dystrophy.
• Limb - girdle muscular dystrophy.
• Oculopharyngeal muscular dystrophy.
• And also some others.

Becker muscular dystrophy

This pathology is relatively rare and, unlike the severe malignant form of Duchenne, is benign and progresses quite slowly. One of characteristic features It may be that this form usually affects people who are short in stature. The disease does not make itself felt for quite a long time and the person lives ordinary life. The impetus for the development of the disease can be either a banal domestic injury or a concomitant disease.

Becker muscular dystrophy is one of the milder forms of this disease both in terms of the severity of clinical symptoms and the completeness of molecular manifestations. Symptoms in the case of diagnosing muscular dystrophy using the Becker form are poorly detected. A patient with such a pathology is able to live quite normally for decades. With such weak symptoms, Becker dystrophy may well be confused by a low-qualified doctor with limb-lumbar dystrophy. The first signs of this pathology usually begin to appear at the age of twelve. The teenager begins to feel pain in the lower extremities (in the lower leg area), especially during exercise. A urine test shows a high level of myoglobin, which is an indicator that muscle protein is being broken down in the body. There is an increase in creatine kinase in the patient’s body (an enzyme produced from ATP and creatine). It is actively used by the body as physical stress increases.

The symptoms of Becker muscular dystrophy are quite similar to the symptoms that characterize Duchenne pathology. However, the manifestations of this form of the disease begin much later (between the ages of 10 and 15), and the progression of the disease is not so aggressive. By the age of thirty, such a patient may not yet lose his ability to work and can walk quite normally. There are frequent cases when this pathology “runs in the family”: a grandfather suffering from this disease passes on the mutated genome to his grandson through his daughter.

This form of muscular dystrophy was described by doctors and scientists Becker and Keener back in 1955, which is why it bears their name (it is known as Becker or Becker-Keener muscular dystrophy).

Symptoms of identifying pathology, as in the case of Duchenne's disease, begin with deviations in the pelvic-girdle region, also affecting the lower extremities. This manifests itself in a change in gait, problems appear with climbing stairs, and it is very difficult for such a patient to get up from a sitting position on low surfaces. The size of the calf muscles gradually increases. At the same time, changes in the area of ​​the Achilles tendons, noticeable in Duchenne pathology, are only slightly visualized in this case. There is no decrease in a person’s intellectual abilities, which is inevitable with malignant muscular dystrophy (according to Duchenne). Changes in the muscle tissue of the heart are also not so significant, therefore, with the disease in question, cardiomyopathy is practically not observed, or it occurs in a mild form.

As with other forms of muscular dystrophy, a clinical blood test shows increases in the levels of some enzymes in the serum, although these are not as significant as in the case of Duchenne changes. Disruptions also occur in metabolic processes

Erb Roth muscular dystrophy

This pathology is also called juvenile. Symptoms of this disease begin to appear between the ages of ten and twenty. Significant difference The symptoms of this form of the disease are that the primary site of localization of changes is the shoulder girdle, and then muscle atrophy begins to capture more and more areas of the patient’s body: the upper limbs, then the region of the belt, pelvis and legs.

Cases of the disease occur in a proportion of 15 patients per million of the population. The defective genome is inherited through an autosomal recessive pathway. Both women and men are equally likely to suffer from this disease.

Erb Roth muscular dystrophy significantly deforms the patient's chest (as if sinking it backwards), the stomach begins to protrude forward, and the gait becomes uncertain and waddles. The first signs of the disease appear at approximately 14–16 years of age, but the range itself is much wider: there are cases of later development - after the third decade, or vice versa - at about ten years old (with early symptoms, the disease occurs with more severe manifestations). The intensity and progression of the disease varies from case to case. But the average length of the cycle from the onset of the first symptoms to complete disability is from 15 to 20 years.

Most often, Erb muscular dystrophy begins to manifest itself with changes in the pelvic-girdle region, as well as with swelling and weakness in the legs. Further, the spreading pathology gradually invades the remaining muscle groups of the patient’s body. Mostly, the lesion does not affect the facial muscles, the heart muscle remains untouched, and the level of intelligence usually remains at the same level. The quantitative indicator of enzymes in the blood serum is slightly increased, but not to the same level as in previous cases.

Muscular dystrophy of the form in question is one of the most amorphous pathologies.

Primary muscular dystrophy

The disease in question is hereditary and gender-related (genome defect of the X chromosome). The transmission route is recessive.

The clinical manifestation is quite early - before three years old baby. Even during the infant period, you can notice a lag in the development of motor skills in toddlers; later than healthy children, they begin to sit and walk. By the age of three, the baby has noticeable weakness in the muscles, he gets tired quickly, and does not tolerate even minor loads. Gradually, atrophy affects the pelvic girdle and proximal muscles of the lower extremities.

The classic symptomatology is pseudohypertrophy (muscle matter is replaced by fat, increasing the size of the area). Most often, the calf region is affected, but there are cases of defects in the deltoid muscles. The so-called “gnome caviar”. Over time, it becomes difficult for the baby to run, jump, and climb stairs. After some time, atrophy overtakes the shoulder girdle.

Neuromuscular dystrophy

Medicine includes a number of hereditary (genetic) diseases that affect muscle and nerve tissue. One of them is neuromuscular dystrophy, which is characterized by impaired motor and static manifestations against the background of muscular atrophy. Neurons responsible for motor functions (anterior horn cells) are affected, which leads to changes in a group of tissues spinal cord. Damage to neurons in the nuclei of cranial nerve cells affects facial expressions, bulbar and ocular muscles. Cells of the same type are also responsible for motor processes, and when damaged, peripheral nerve endings and neuromuscular junctions are affected.

Basic signs of this pathology:

• Atrophy of muscle-connective tissues.
• Muscle pain.
• Rapid fatigue of the patient.
• Reduced sensitivity of receptors.
• Or, on the contrary, increased sensitivity, even pain syndromes.
• The appearance of sudden seizures.
• Dizziness.
• Heart pathology.
• Deterioration of vision.
• Failure in the sweating system.

Muscular dystrophy Landouzi Dejerine

Most often, the pathology of this form begins to manifest itself in adolescents at the age of 10–15 years, although in fact there are cases where muscular dystrophy of dejerine landusia began to develop in six-year-old children, or in a fifty-year-old person. The primary area of ​​pathology is most often the muscle group of the facial zone. Gradually, the halo of the lesion expands, and groups of the shoulder girdle, torso and further down begin to atrophy. When facial expressions are affected in the early period of the disease, the eyelids do not close tightly. The lips also remain parted, which leads to a speech impediment. The course of the disease is slow - during this period the person is absolutely able to work, only after 15 - 20 years the muscles of the belt and pelvis gradually begin to atrophy - this leads to motor passivity. And only by the age of 40–60 does the lesion completely affect the lower limbs.

That is, muscular dystrophy of landouzi dejerine can be called a favorable current manifestation of muscle damage.

Emery Dreyfus muscular dystrophy

Like all previous ones, Emery Dreyfuss muscular dystrophy is a hereditary disease. The main affected area is atrophy of the ulnohumeral and ankle muscles. This disease is characterized by a long period of development. In the vast majority of cases, the heart is affected: bradyarrhythmias, decreased blood flow, blockade and others. Malfunctions of the heart can cause fainting and sometimes even death.

Early diagnosis of not only the disease itself, but also differentiation of its form, will help save the life of more than one patient.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy refers to a hereditary pathology, the modes of inheritance of which are both autosomal recessive and autosomal dominant diseases. The base affected area is the waist, torso and upper extremities. In this case, the facial muscles are not affected.

According to research data, it was possible to establish at least two loci of the chromosome genome, the mutation of which creates an impetus for the development of limb-girdle muscular dystrophy. The progression of this lesion is quite slow, allowing the patient to fully enjoy life.

Oculopharyngeal muscular dystrophy

An autosomal dominant disease that manifests itself already in quite mature age- oculopharyngeal muscular dystrophy. As strange as it sounds, this pathology affects people belonging to certain ethnic groups.

Most often, symptoms begin to appear between the ages of 25 and 30. Classic signs of this muscular dystrophy are atrophy of the facial muscles: ptosis of the eyelids, problems with swallowing function (dysphagia). The disease, gradually progressing, leads to immobility of the eyeball, while the internal muscles of the eye are not affected. At this stage, the changes may stop, but sometimes the remaining facial muscles are also affected by pathology. Quite rare, but muscle groups of the shoulder girdle, neck, palate and pharynx are also involved in the destructive process. In this case, in addition to ophthalmoplegia and dysphagia, dysphonia (problem of the speech apparatus) also progresses.

Muscular dystrophy in children

Childhood. Many remember him with a smile. Hide and seek, swings, bicycles... How many more various games the kids come up with. But there are kids who cannot afford such luxury. Muscular dystrophy in children does not provide this opportunity.

Almost all, with rare exceptions, forms can manifest their symptoms in children: the malignant form of pathology according to Duchon (developing only in boys), and benign muscular dystrophy according to Becker and others. Particularly dangerous is a pathology that develops rapidly and aggressively (Duchon form). Moreover, what is dangerous for a baby is not so much the symptoms themselves (atrophy of almost all muscle groups), as secondary complications, which lead to death at twenty years of age. Most often, death occurs due to respiratory infection or heart failure. But these symptoms become more obvious only when the baby begins to take his first steps.

• Developmental delay: these children begin to sit and walk later.
• Slow intellectual development.
• The muscles of the spine are the first to be affected.
• It is difficult for such babies to run and climb stairs.
• Waddle gait.
• Spinal deformity.
• Walking on your toes.
• It is difficult for the baby to support his weight, and he gets tired quickly.
• Due to adipose tissue, muscle size increases.
• Damage to the limbs occurs symmetrically.
• Pathological enlargement of the jaw and spaces between the teeth.
• Around the age of 13, the child stops walking completely.
• Pathology of the heart muscle.

In other forms of damage, the symptoms are quite similar, only the severity of the damage is much lower.

Diagnosis of muscular dystrophy

The diagnosis of muscular dystrophy is clear:

• Collection of family history. The doctor needs to find out whether there were cases of this disease in the patient’s family, what form of manifestation was observed, the nature of its course.
• Electromyography. A method that allows you to determine the electrical activity of muscle tissue.
• Microscopic examination. A biopsy to differentiate the class of mutated changes.
• Genetic testing. Conducting molecular biological and immunological studies of a pregnant woman. These methods make it possible to predict the possibility of developing the pathology of muscular dystrophy in an unborn child.
• Consultation with a therapist, obstetrician-gynecologist, orthopedist.
• Blood test for enzyme levels. Without injury, elevated levels of the enzyme creatine kinase indicate the presence of pathology.
• Urinalysis shows increased levels of creatine, amino acids and decreased levels of creatinine.

The doctor can only say one thing: the later the symptoms of muscular dystrophy appear, the more gentle they are. Early manifestations have serious consequences: disability, and in some cases, death.

Treatment of muscular dystrophy

Muscular dystrophy cannot be completely and irrevocably cured, but medicine tries to carry out measures as effectively as possible that would alleviate the symptoms of the disease as much as possible, while preventing the occurrence of complications.

Treatment for muscular dystrophy involves an integrated approach to the problem. To stimulate muscle activity at least a little, the attending physician prescribes corticosteroids to the patient. For example, prednisone.

• Prednisone

If the disease is acute, this medicine the patient begins to take in three to four doses a daily dosage of 0.02-0.08 g. When severe manifestations are removed, the consumed dose is reduced to 0.005-0.010 g daily.

There are also restrictions on taking this drug. You should drink no more than 0.015 g at a time, the daily dosage is 0.1 g.

The duration of the course of treatment depends on the characteristics of the developing disease and the effectiveness of the clinical effect of the drug. While taking this medicine, it is advisable for the patient to adhere to a diet rich in potassium salts and proteins. This diet will help you avoid or at least mitigate the side effects of prednisone consumption. For example, such as swelling, increased blood pressure, insomnia, cramps, increased fatigue and others.

This drug is strictly contraindicated in patients suffering from such diseases as: thrombophlebitis and thromboembolism, gastric ulcers and duodenum, osteoporosis, hypertension, pregnancy and some others.

If the drug is taken for a long time, and the dosages consumed by the patient are impressive, it is recommended to take anabolic hormones (for example, methylandrostenediol) in parallel.

• Methylandrostenediol

The medication tablet is placed under the tongue and kept there until completely absorbed.

For adults (prevention of protein metabolism disorders), the dosage is prescribed in the range of 0.025–0.050 g daily. For babies, the dose is calculated from the proportions of 1.0–1.5 mg per 1 kg of the child’s body weight, but the daily dosage should fall within the range of 0.010–0.025 g.

The duration of one course is three to four weeks, then a break of two to three weeks and you can start taking the next cycle.

The maximum permissible daily dosage is 0.10 g (adults) and 0.050 g (children). Single dose – 0.025 g.

It is not recommended to prescribe methylandrostenediol to patients with functional liver failure, individual intolerance to the components of the drug, prostate cancer, diabetes mellitus and some other diseases.

Patients with muscular dystrophy are also prescribed drugs that relieve spasms of muscle tissue: diphenin, carbamazepine.

• Difenin

The drug is available in both tablet and capsule form. The drug is taken three to four times a day, during or after meals. The daily dosage is 0.02-0.08 g (for acute disease), subsequently the amount of the drug taken is reduced to 0.005-0.010 g per day. If, on the contrary, the effectiveness of administration is low, the dose can be increased to 0.4 g.

Children's dosage is slightly different:

Children under five years of age are prescribed two daily doses of 0.025 g.

For children five to eight years old, the number of doses is increased to three to four per day at dosages of 0.025 g.

For adolescents over eight years of age, the dose is divided into two parts of 0.1 g.

The proposed drug is contraindicated for use by people suffering from hypersensitivity to the components of the drug, peptic ulcers gastrointestinal tract, thrombosis, mental disorders, acute diseases of the heart and endocrine system, and some other diseases.

• Carbamazepine

The drug is used throughout the day, without being tied to meals. Take the tablet with a small amount of liquid. The starting dose of the drug is 100–200 mg and is taken once or twice a day. The dosage is gradually increased to achieve desired effect, up to 400 mg. At the same time, the number of doses is increased, bringing them to two to three per day. The maximum permissible daily dosage should not exceed 2000 mg.

The starting dose for children five years old is 20–60 mg daily. Then, every two days the dosage is increased by the same 20–60 mg daily.

The starting daily dosage for children over five years of age starts at 100 mg. Then, every subsequent week the dose is increased by 100 mg.

The total maintenance amount of the drug for children is calculated based on the proportions: ten to twenty mg per kilogram of the child’s weight per day and is divided into two to three doses.

Taking the drug should be limited to patients suffering from epileptic seizures, acute forms of diseases of the cardiovascular system, diabetes, hypersensitivity to tricyclic antidepressants, renal and liver failure and other diseases.

After consulting with your doctor, it is possible to use so-called dietary supplements (dietary supplements).

• Creatine

This is a natural drug that helps increase muscle volume and activates them to adequately respond to stress. The dosage is prescribed by the doctor, individually for each individual case.

• Coenzyme Q10

This drug is contraindicated for pregnant women and women during lactation, children under 12 years of age, with individual intolerance to any components of the drug, with gastrointestinal ulcers, hypertension and others.

Practices for muscular dystrophy are simple, but quite effective exercises to stretch the muscles of the lower and upper extremities to prevent contracture (long-lasting, often irreversible tightening of muscle tissue fibers).

Physiotherapeutic treatment of muscular dystrophy involves therapeutic massages that increase muscle tone. Simple but effective breathing exercises are also practiced.

If contracture or scoliosis is already quite severe, then after consultation with specialists in other, narrower fields (for example, an orthopedist, obstetrician-gynecologist, neurologist), the attending physician may decide on surgical intervention.

During pregnancy, a woman undergoes restructuring hormonal levels, which can become an impetus for activating the process of muscular dystrophy. In this case, in order to save the woman’s life, she is recommended to terminate the pregnancy.

Treatment of Duchenne muscular dystrophy

A major breakthrough in the field of medicine was the fact that scientists were able to specify the genome responsible for the onset of progression of the disease, which is known to doctors as Duchenne muscular dystrophy. But, nevertheless, to date it has not yet been possible to obtain a drug and determine a protocol of measures that would make the treatment of Duchenne muscular dystrophy effective. That is, today it is impossible to cure this disease.

There is only an opportunity to reduce the aggressiveness of symptoms, at least slightly improve the quality and increase the patient’s life expectancy. These circumstances gave a powerful impetus to stimulate experimental research in this area.

Patients receive the necessary comprehensive treatment. But in addition to standard methods, he is often offered experimental methods that are just being developed. Thanks to the efforts of doctors, the prognosis has been slightly changed to improve the vital signs and life expectancy of such patients, but it is still not possible to completely defeat Duchenne muscular dystrophy.

Prevention of muscular dystrophy

On at this stage With the development of medicine, it is impossible to completely prevent muscular dystrophy. But take some steps to recognize it on early stages and it is possible to start treatment or maintenance therapy faster (depending on the form of the disease).

Prevention of muscular dystrophy:

• Modern medicine can diagnose the pathological form of Duchenne even at the stage of intrauterine development. Therefore, pregnant women undergo laboratory tests to identify mutated genes, especially in cases where the future person already had cases of muscular dystrophy in the family.
• Also, the expectant mother should regularly visit an obstetrician-gynecologist: in the first trimester once a month (at least), in the second trimester - once every two to three weeks, in the last trimester - once every seven to ten days. She must register with a gynecologist no later than the 12th week of pregnancy.
• An active lifestyle that includes stretching exercises for the muscles of the lower and upper extremities. These simple exercises will help you maintain the mobility and flexibility of your joints longer.
• The use of special braces, which help maintain atrophying muscle groups, can slow down the development of contracture and maintain joint flexibility longer.
• Additional aids (wheelchairs, walkers and canes) provide the patient with individual mobility.
• The respiratory muscles are often also affected. The use of special breathing apparatus will allow the patient to receive oxygen in normal dosages at night. For some patients it is indicated around the clock.
• Infectious viruses can be a serious problem for a person with muscular dystrophy. Therefore, the patient must be protected as much as possible from the possibility of infection: a healthy epidemiological environment, regular flu vaccinations and other measures.
• The support of such a patient and his family members is important: both emotional, physical, and financial.

Prognosis of muscular dystrophy

The most unfavorable prognosis for muscular dystrophy is the Duchenne form (the most severe malignant form of the disease). The prognosis here is disappointing. Patients with this pathology rarely live to the age of twenty. Modern treatment can only briefly prolong the life of such patients, but can significantly improve the quality of their existence.

In other cases, the prognosis of muscular dystrophy largely depends on the form of the pathology and the factor that determines how early the disease was diagnosed. If the pathology is recognized at an early stage of its onset, and the disease can be classified as a mild form of manifestation, then there is a real opportunity to almost completely defeat the disease.

Modern medicine is not omnipotent. But there is no need to despair. The main thing is to be more attentive to your health and the health of your loved ones. If a diagnosis of muscular dystrophy has been made, then everything must be done to pull out loved one from this abyss. If the form of the pathology is such that a complete recovery is impossible, you will have to do everything in your power to alleviate the symptoms of the disease, surround it with care and attention, and try to fill the patient’s life positive emotions. The main thing is not to give up, under any circumstances.

Muscular dystrophy (MD) is a group of diseases characterized by progressive weakness and muscle degeneration. The muscles gradually atrophy - they lose their volume and, therefore, strength.

These are diseases of genetic origin that can occur at any age: from birth, in childhood or in adulthood. There are more than 30 forms of the disease, which vary in age at onset of symptoms, the type of muscles affected and severity. Most types of dystrophies gradually become more complicated and have irreversible consequences. Currently, there is still no cure for MD. The most famous and common type of disease is Duchenne myopathy.

During the development of MD, the primary muscles that are affected are those that facilitate voluntary movement, including the hips, legs, arms, and forearms. In some cases, the respiratory muscles and heart may be affected. People with muscular dystrophy gradually lose their mobility when walking. Other symptoms may be related to muscle weakness, including heart, gastrointestinal, and eye problems.

Dystrophy or myopathy? The term "myopathy" is common name for all pathologies M. D. Muscular dystrophies are special forms myopathies. However, in everyday language, the term myopathy is often used to refer to muscle degeneration.

Myopathy is a rare and incurable disease. It is difficult to come up with accurate statistics because they combine different diseases. According to some studies, about 1 in 3,500 people suffer from this disease.

For example:

The frequency and type of diseases varies by country:

Causes of the disease and treatment

The cause of this pathology is genetic diseases, that is, a defect (or mutation) of a gene necessary for normal muscle development. When this gene mutates, the muscles are no longer able to function normally - they lose their strength potential and, as a result, atrophy.

Several dozen different genes are involved in the course of myopathy. Most often, these are genes that “produce” proteins that are located in the membrane of muscle cells.

For example:

• Duchenne myopathy is associated with a deficiency of dystrophin, a protein located under the membrane of muscle cells that plays a role in muscle contraction.
• In almost half of congenital MD, the cause is a deficiency of merosin, a protein that makes up the membrane of muscle cells.

Like many genetic diseases, myopathy is most often passed on by parents to their child. Less commonly, these diseases may “appear” spontaneously when a gene mutates randomly. In this case, the diseased gene is not present in the parents or other family members.

Typically, MD is transmitted recessively. In other words, for the disease to be expressed, both parents must be carriers and pass on the abnormal gene to the child. The disease does not manifest itself in parents for the reason that each of them has only one abnormal gene, and not two. For normal muscle functioning, one normal gene is enough.

In addition, some forms of myopathy affect only boys: these are Duchenne and Becker myopathy. In both cases, the gene involved in these two diseases is located on the X chromosome, which exists in a single copy in the male sex.

Symptoms of the disease

MD is characterized by muscle weakness that tends to gradually worsen; symptoms vary depending on the type of pathology. Depending on the case, other symptoms such as cardiac and respiratory disorders, eye abnormalities (malformations, cataracts), intellectual deficit, hormonal disorders, etc. may be present.

Characteristics of the most common pathologies

Duchenne muscular myopathy. Symptoms most often begin around the ages of 3 to 5 years. Due to weakened leg muscles, children who walked “normally” often fall and have difficulty standing up. Running, walking and jumping are becoming increasingly difficult for them. Muscles, when weakened, lose their volume, with the exception of the calf muscles, which can even become larger by replacing muscle mass with fat.

Children often complain of cramps and muscle pain. The disease develops quite quickly as soon as the first symptoms appear. General use wheelchair required at approximately age 12. This type of disorder leads to scoliosis and joint deformities. In addition, some children have mental retardation. By the end of adolescence, cardiac complications (heart failure) and respiratory problems requiring artificial air supply are common. Average duration life (from 20 to 30 years on average).

Becker myopathy. The symptoms are comparable to those of Duchenne MD, but they are less severe and the progression of the disease is slower. Symptoms begin between 5 and 15 years of age, sometimes later, and are characterized by a progressive loss of muscle strength in the limbs and surrounding torso. In more than half of cases, walking remains possible until age 40.

Steinter myopathy. It is one of the three most common myopathies in adults and is most common in Quebec. Symptoms vary from person to person. Although they usually appear between the ages of 30 and 40, there are earlier forms (juvenile and congenital).

Myotonia is also observed - an abnormal and prolonged muscle contraction (the muscle relaxes too slowly), especially expressed in the hands and sometimes on the tongue. The muscles of the face, neck and ankles may also be affected. Cardiac and respiratory abnormalities are often present and are potentially serious. Digestive, hormonal, eye disorders, as well as infertility and early baldness are often observed.

Lumbar myopathy. Symptoms usually begin in childhood (age 10) or early adulthood (around age 20). The muscles of the shoulders and hips gradually weaken, while the muscles of the head, neck and diaphragm are usually unaffected. If some forms are accompanied by respiratory disorders, then with this type of dystrophy there are no such anomalies. Cardiac disorders are rare. Evolution (disease development) is very variable, depending on the form.

Dejerine-Landouzy myopathy or glenohumeral dystrophy. Symptoms usually appear in late childhood or adulthood (ages 10 to 40). As the name suggests, myopathy affects the muscles of the face, shoulders and arms. Thus, it becomes difficult for the patient to express a smile, pronounce some sentences and close his eyes. Loss of mobility occurs in approximately 20% of cases. The disease develops slowly, life expectancy is normal.

Congenital MD. Symptoms vary from one form to another and are present at birth or in the first months of life. The child has little muscle tone and has difficulty sucking and swallowing, and sometimes even breathing. These dystrophies may be accompanied, in particular, by brain defects, mental retardation, and abnormal eye development.

Oculopharyngeal myotonia. This disease is relatively common in Quebec. Symptoms usually appear around age 40 or 50. The first signs of the disease are drooping eyelids, followed by weakness of the muscles of the eyes, face and throat (pharynx), causing difficulty swallowing food. The progression of the disease is slow.

Research and progress

Since 2005, stem cells have been increasingly used to treat patients with developing muscle lesions. To treat muscular dystrophy with this method, various variants of the disease can be considered, such as: Duchenne, Becker muscular dystrophies, lumbar and shoulder myopathy.

The goal of treatment is to regenerate lost and damaged muscle fibers using the regenerative potential of stem cells. To do this, large numbers of stem cells are administered through multiple intravenous and intramuscular injections, allowing therapy to be better targeted specifically to the affected muscle group.

Possible progress

Stem cell therapy can provide improvements in muscle mass, strength, movement, balance, tremors and muscle stiffness. Stem cells may also slow future muscle loss and reduce symptoms.

It is important to note that treatment is not a definitive cure for this disease and in no way can solve the problem of muscle fiber loss. For this reason, progress after such treatment may not be permanent. Research in this area is still ongoing.

Disease families

There are generally two main families of MDs:

Evolution of dystrophy

The evolution (disease development) of MD varies greatly from one form to another, as well as from one person to another. Some forms develop quickly, leading to early loss of mobility and walking and sometimes fatal cardiac or respiratory complications, while others develop very slowly over decades. Most congenital muscular dystrophies, for example, which are mild or almost invisible, can later appear suddenly and with serious consequences.

Possible complications

Complications vary greatly depending on the type of pathology. Some disorders can affect the respiratory muscles or the heart, sometimes with very serious consequences.

Thus, cardiac complications are quite common, especially in boys with Duchenne muscular dystrophy.

In addition, muscle degeneration causes the body and joints to gradually deform; against this background, patients may develop scoliosis. Often there is a contraction of muscles and tendons, which leads to their tightening. All these disorders lead to deformation of the joints: legs and arms are turned inward and downward, knees or elbows are deformed.

It is also known that the disease is accompanied by anxiety or depressive disorders, so patients require a lot of attention and support, primarily from loved ones.

Duchenne muscular dystrophy is a genetic disease associated with a disorder in the structure of muscle fibers. The muscle fibers in this disease eventually break down and the ability to move is lost. Duchenne muscular dystrophy is transmitted in a gender-linked manner and affects males. It manifests itself already in childhood. Besides muscle disorders, the disease leads to skeletal deformities and may be accompanied by respiratory and heart failure, mental and endocrine disorders. There is no radical treatment to eradicate the disease yet. All existing measures are only symptomatic. It is quite rare for patients to survive beyond the age of 30. This article focuses on the causes, symptoms, diagnosis and treatment of Duchenne muscular dystrophy.

The disease was first described in 1861 (according to other sources - 1868) by a French neurologist and bears his name. It is not so rare: 1 case in 3500 newborns. Of all known to medicine, muscular dystrophy is the most common.

Duchenne muscular dystrophy is based on a genetic defect of the sex X chromosome.

One of the sections of the X chromosome contains a gene that encodes the production of a special muscle protein called dystrophin in the body. The protein dystrophin forms the basis of muscle fibers (myofibrils) at the microscopic level. The function of dystrophin is to maintain the cellular skeleton and ensure the ability of myofibrils to undergo repeated acts of contraction and relaxation. In Duchenne muscular dystrophy, this protein is either absent altogether or is synthesized defectively. The level of normal dystrophin does not exceed 3%. This leads to the destruction of muscle fibers. Muscles degenerate and are replaced by fat and connective tissue. Naturally, in this case the motor component of human activity is lost.

The disease is inherited in a recessive manner linked to the X chromosome. What does this mean? Since all human genes are paired, that is, they duplicate each other, in order for pathological changes to appear in the body due to a hereditary disease, it is necessary that a genetic defect arise in one chromosome or similar sections of both chromosomes. If the disease occurs only with mutations in both chromosomes, then this type of inheritance is called recessive. When a genetic abnormality is detected in only one chromosome, but the disease still develops, this type of inheritance is called dominant. The recessive type is possible only when identical chromosomes are affected simultaneously. If the second chromosome is “healthy”, then the disease will not occur. That is why Duchenne muscular dystrophy is the lot of males, because they have one X chromosome in their genetic set, and the second (paired) Y chromosome. If a boy comes across a “broken” X chromosome, then he will definitely develop the disease, because the healthy chromosome he just doesn't have it. In order for Duchenne muscular dystrophy to occur in a girl, there must be a coincidence in her genotype of two pathological X chromosomes, which is practically unlikely (in this case, the girl’s father must be sick, and her mother must have a defective X chromosome in her genetic makeup). Girls act only as carriers of the disease and pass it on to their sons. Of course, some cases of the disease are not the result of inheritance, but occur sporadically. This means that a mutation appears spontaneously in the child’s genetic makeup. A newly appeared mutation can be inherited (provided the ability to reproduce is preserved).

Symptoms of the disease

Duchenne muscular dystrophy always manifests itself before the age of 5. Most often, the first symptoms appear before the age of 3 years. All pathological manifestations of the disease can be divided into several groups (depending on the nature of the changes):

• damage to skeletal muscles;
• skeletal deformities;
• damage to the heart muscle;
• mental impairment;
• endocrine disorders.

Skeletal muscle damage

Damage to muscle tissue is the main manifestation of the disease. It causes generalized muscle weakness. The initial symptoms creep up unnoticed.

Children are born without any special deviations. However, their motor development lags behind compared to their peers. Such children are less active and mobile in terms of motor activity. While the child is very young, this is often associated with temperamental characteristics and no attention is paid to the initial changes.

Obvious signs appear as soon as walking begins. Children often fall and walk on their toes. It should be noted that these violations are not interpreted during the child’s first steps, because upright walking is initially associated with falls and clumsiness for all children. While most of their peers can walk quite confidently, boys with Duchenne muscular dystrophy stubbornly continue to fall.

When the child learns to talk, he begins to complain of weakness and fatigue, and intolerance to physical activity. Running, climbing, jumping and other children's favorite activities are not attractive to a child with Duchenne muscular dystrophy.

The gait of such children resembles that of a duck: they seem to waddle from one foot to the other.

A peculiar manifestation of the disease is Govers' symptom. It is as follows: when a child tries to rise from his knees, squats, or the floor, he uses his hands to help the weak leg muscles. To do this, he leans his hands on himself, “climbing the ladder, on his own.”

Duchenne muscular dystrophy has an ascending pattern of muscle weakness. This means that weakness first appears in the legs, then spreads to the pelvis and torso, then to the shoulders, neck and finally to the arms, respiratory muscles and head.

Despite the fact that with this disease, muscle fibers are destroyed and atrophy develops, outwardly some muscles may look quite normal or even pumped up. The so-called pseudohypertrophy of muscles develops. Most often, this process is noticeable in the calf, gluteal and deltoid muscles, and the muscles of the tongue. The place of disintegrated muscle fibers is taken by adipose tissue, which is why the effect of good muscle development is created, which, when tested, turns out to be completely wrong.

The atrophic process in muscles is always symmetrical. The ascending direction of the process leads to the appearance of a “wasp” waist, “wing-shaped” shoulder blades (the shoulder blades lag behind the body, like wings), and the symptom of “loose shoulder girdles” (when the head seems to fall into the shoulders when trying to lift the child under the armpits). The face is hypomimic, the lips may thicken (replacement of muscles with fatty and connective tissue). Pseudohypertrophy of the tongue causes speech disorders.

The destruction of muscles is accompanied by the development of muscle contractures and shortening of tendons (clearly noticeable in the example of the Achilles tendon).

Tendon reflexes (knee, Achilles, biceps, triceps, etc.) gradually decrease. The muscles are firm to the touch, but painless. Muscle tone usually decreases.

The gradual progression of muscle weakness leads to the fact that by the age of 10-12 years, many children lose the ability to move independently and need a wheelchair. The ability to stand lasts, on average, until age 16.

Separately, it should be said about the involvement of the respiratory muscles in the pathological process. This is observed after adolescence. Weakness of the diaphragm and other muscles involved in the act of breathing leads to a gradual decrease in the vital capacity of the lungs and ventilation volumes. This is especially noticeable at night (baits of suffocation appear), so children may have fears before going to sleep. Respiratory failure develops, which aggravates the course of intercurrent infections.

Skeletal deformities

These are symptoms accompanying muscle changes. In children, an increased lumbar curve (lordosis), a sideways curvature of the thoracic spine (scoliosis) and a stoop (kyphosis) are gradually formed, and the shape of the foot changes. Over time, diffuse osteoporosis develops. These symptoms further worsen movement disorders.

Damage to the heart muscle

It is a mandatory symptom of Duchenne muscular dystrophy. Patients develop cardiomyopathy (hypertrophic or dilated). Clinically, this manifests itself as disturbances heart rate, changes in blood pressure. The boundaries of the heart increase, but such a large heart has little functionality. Eventually, heart failure develops. The combination of severe heart failure with respiratory disorders against the background of an associated infection can be the cause of death in patients with Duchenne muscular dystrophy.

Mental impairment

This is not mandatory, but a possible sign of the disease. It is associated with a deficiency of a special form of dystrophin, apodystrophin, found in the brain. Intellectual impairments range from mild to idiotic. Moreover, the severity of mental impairment is in no way related to the degree of muscle disorders. Social maladaptation due to the inability to move freely and attend child care institutions (kindergartens, schools) contributes to the worsening of cognitive disorders.

Endocrine disorders

Occurs in 30-50% of patients. They can be quite varied, but most often it is obesity with a predominant deposition of fat in the area of ​​the mammary glands, thighs, buttocks, shoulder girdle, underdevelopment (or dysfunction) of the genital organs. Patients are often short in stature.

Duchenne muscular dystrophy is steadily progressing. By the age of 15-20, almost all patients are unable to care for themselves due to immobility. In the end, bacterial infections (respiratory and urinary organs, infected bedsores with insufficient care) are added, which, against the background of cardiac and respiratory failure, lead to death. Few patients survive the age of 30.

Diagnostics

Diagnosis of Duchenne muscular dystrophy is based on several types of studies, the main of which is a genetic test (DNA diagnostics).

Only the detection of a defect in the X chromosome in the region responsible for the synthesis of dystrophin reliably confirms the diagnosis. Before such an analysis is carried out, the diagnosis is preliminary.

Other research methods can be used:

• determination of creatine phosphokinase (CPK) activity. This enzyme reflects the death of muscle fibers. Its concentration in Duchenne muscular dystrophy exceeds the norm tens and hundreds of times before the age of 5. Later, the enzyme level gradually decreases because some of the muscle fibers are already irreversibly destroyed;
• electromyography. This method allows us to confirm the fact that the disease is based on primary muscle changes, and the nerve conductors are completely intact;
• muscle biopsy. It is used to determine the content of the dystrophin protein in the muscle. However, due to improvements in genetic diagnosis in recent decades, this traumatic procedure has faded into the background;
• breathing tests (study of vital capacity of the lungs), ECG, ultrasound of the heart. These methods are not used to establish a diagnosis, but are necessary to identify pathological changes in the respiratory and cardiovascular systems in order to correct existing disorders.

Identification of a sick child in a family means that the mother’s genotype contains a pathological X chromosome. In rare cases, the mother may be healthy if the mutation occurred by chance in the child. Having a defective X chromosome carries a risk for subsequent pregnancies. Therefore, such families should be counseled by a geneticist. When advancing repeat pregnancies parents are offered prenatal diagnosis, that is, a study of the genotype of an unborn child in order to exclude hereditary diseases, including Duchenne muscular dystrophy.

For the study, you will need fetal cells, which are obtained using various procedures on different dates pregnancy (for example, chorionic villus biopsy, amniocentesis and others). And although these medical procedures carry a certain risk for pregnancy, they can accurately answer the question: does the fetus have a genetic disease.

Treatment

Duchenne muscular dystrophy is currently an incurable disease. You can help a child (adult) extend the time of physical activity by using in various ways maintaining muscle strength, compensating for changes in the cardiovascular and respiratory systems.

Despite this, scientists' forecasts for a complete cure for this disease are quite optimistic, since the first steps in this direction have already been taken.

Currently, medications used to treat Duchenne muscular dystrophy include:

• steroids (with regular use they can reduce muscle weakness);
• β-2-adrenergic agonists (also temporarily increase muscle strength, but do not slow the progression of the disease).

The use of β-2-adrenergic agonists (Albuterol, Formoterol) does not have statistically reliable recognition, since there is little experience with their use in this pathology. Changes in the health status of a group of patients using these drugs were monitored for one year. Therefore, it is not possible to say that they work for a longer time.

The mainstay of treatment today is steroids. It is believed that their use allows you to maintain muscle strength for some time, that is, they can slow down the progression of the disease. In addition, steroids have been shown to reduce the risk of scoliosis in Duchenne muscular dystrophy. But still, the capabilities of these drugs are limited, and the disease will steadily progress.

When do hormone treatment begin? It is believed that the optimal time to start therapy is the phase of the disease when motor skills are not improving, but are not yet deteriorating. This usually happens between the ages of 4-6 years. The most commonly used drugs are Prednisolone and Deflazacort. Doses are prescribed individually. The drugs are used as long as there is a visible clinical effect. When the disease progression phase begins, the need to use steroids disappears, and they are gradually (!) abolished.

Among medications, cardiac drugs (antiarrhythmic, metabolic, angiotensin-converting enzyme inhibitors) are also used for Duchenne muscular dystrophy. They allow you to fight the cardiac aspects of the disease.

Among non-drug treatment methods, physiotherapy and orthopedic care play a significant role. Physiotherapeutic techniques allow you to maintain flexibility and mobility of joints longer than without their use, and maintain muscle strength. It has been proven that moderate physical activity has a beneficial effect on the course of the disease, but inactivity and bed rest, on the contrary, contribute to even more rapid progression of the disease. Therefore, it is necessary to maintain feasible physical activity for as long as possible, even after the patient has “moved” into a wheelchair. Regular massage courses are indicated. Swimming has a positive effect on the patient's well-being.

Orthopedic devices can significantly make the patient’s life easier. Their list is quite wide and varied: these include various types of verticalizers (help to maintain a standing position), and devices for standing up independently, and electric wheelchairs, and special splints for eliminating contractures in the lower leg (used even at night), and corsets for the spine, and long splints for the legs (knee-ankle orthoses), and much more.

When the disease affects the respiratory muscles and spontaneous breathing becomes ineffective, it is possible to use artificial lung ventilation devices of various modifications.

And yet, even the use of all these measures in combination does not allow us to overcome the disease. Today, there are a number of promising areas of research that may become a breakthrough in the treatment of Duchenne muscular dystrophy. The most common among them include:

• gene therapy (introduction of the “correct” gene using viral particles, delivery of genetic constructs as part of liposomes, oligopeptides, polymer carriers, etc.);
• regeneration of muscle fibers using stem cells;
• transplantation of myogenic cells that are capable of synthesizing normal dystrophin;
• exon skipping (using antisense oligoribonucleotides) as an attempt to slow the progression of the disease and mitigate its course;
• replacement of dystrophin with another protein, utrophin, the gene of which has been deciphered. The technique was tested on mice and gave positive results.

Each of the new developments brings hope for patients with Duchenne muscular dystrophy for a full recovery.

Thus, Duchenne muscular dystrophy is a genetic problem in males. The disease is characterized by progressive muscle weakness due to the destruction of muscle fibers. Currently, it is an incurable disease, but many scientists around the world are working to create a radical way to combat it.

Animated film "Duchenne muscular dystrophy", English. voiceover, subtitles in Russian:

Muscular dystrophy is a group of inherited diseases in which muscle mass and its functions gradually decline.

Types of muscular dystrophy

The nine types of muscular dystrophy include:

Duchenne muscular dystrophy (DMD) , which affects boys by causing progressive muscle weakness and usually starts in the legs. This is the most severe form of muscular dystrophy.

Becker muscular dystrophy (BMD) , which affects older boys and young men, is milder than DMD.

Emery-Dreyfus muscular dystrophy (EDMD) , which affects boys by causing contractures and weakness in the calves, weakness in the shoulders and upper arms, and cardiac conduction defects. Women with EDMD are at risk of heart block.

Limb girdle muscular dystrophy (LGMD) , which begins in late childhood through early adulthood and affects both men and women, causing weakness in the muscles around the hips and shoulders. This is the most variable form of muscular dystrophy, and is divided into several different types. Many people suspected of having HFMD have likely been misdiagnosed in the past; and thus the prevalence of the disease is difficult to estimate.

Facioscapulohumeral myopathy (FSH) , also known as Landouzy-Dejerine disease, which begins in late childhood through early adulthood and affects both men and women, causing weakness in the muscles of the face, shoulders and forearms. The hips and legs may also be affected.

Myotonic dystrophy (MD) , also known as Steinert's disease, affects both men and women, resulting in general weakness affecting the face, legs and arms and an inability to relax the affected muscles (myotonia). Symptoms can begin at any time from birth to adulthood.

Oculopharyngeal muscular dystrophy (OPMD) , which affects adults of both sexes, causing weakness in the muscles of the eyes and throat.

Distal muscular dystrophy (DD) , which begins in middle age or later, causing weakness in the muscles of the arms and legs.

Congenital muscular dystrophy (CMD) , which is present from birth, results in generalized weakness, and usually progresses slowly. Its subtype, called Fukuyama CMD, also includes mental retardation. Both diseases are extremely rare.

Causes and symptoms of muscle dystrophy

Some forms of muscular dystrophy, including DMD, BMD, CMD, and most forms of HFMD, are caused by defects in muscle protein complex genes. Defects in the proteins of the complex lead to muscle dystrophy, which gradually exhausts its ability to repair itself. DMD and MMD are caused by defects in a gene for a protein called dystrophin. The differences between other diseases are less clear.

Muscular dystrophy is a genetic disease, meaning it is caused by defects in genes. Genes that are linked together on chromosomes have two functions. They encode the production of proteins and are the material of inheritance. Parents pass on to their children, through genes, a complete set of instructions for creating their own proteins.

Because both parents pass on genetic material to their child, the child carries two copies of each gene, one from each parent. For some diseases, both copies must be defective. Such diseases are called autosomal recessive. Some forms of HFMD and DD show this pattern of inheritance, as does CMD. A person with only one incorrect copy is called a carrier and will not have the disease but may pass the incorrect gene on to their children.

Other diseases occur when only one copy of a gene is damaged. Such diseases are called autosomal dominant. This pattern of inheritance is demonstrated by HFMD, DM, FSD, OPMD, and some forms of DD.

All types of muscle dystrophy are marked by muscle weakness as the main symptom. The distribution of symptoms, age, disease onset and progression vary significantly. Pain is also a symptom of muscle dystrophy, usually due to the effects of weakness.

Diagnosis of muscular dystrophy

Diagnosing muscular dystrophy involves a thorough review of the patient's medical history and a thorough physical examination. Family history can provide important clues, since all types of muscular dystrophy are genetic.

Laboratory diagnostic tests muscle dystrophies may include the following:

Level of the muscle enzyme creatine kinase (CK) in the blood. CK levels rise due to muscle damage and may be seen in some cases even before symptoms appear.

Muscle biopsy , in which a small piece of muscle tissue is removed for examination. Changes in muscle cell structure and the presence of fibrous tissue or other aberrant structures are characteristic of various forms muscular dystrophy. Muscle tissue can also be examined for the presence or absence of specific proteins, including dystrophin.

Electromyogram (EMG) . EMG is used to study how muscles respond to stimulation. Decreased response manifests itself in muscular dystrophy.

Genetic tests . Some of the types of muscular dystrophy can be identified by testing for the presence of a mutant gene.

Accurate genetic tests for DMD, MDB, DM, several forms of LGMD and EDMD.

Other specific tests as needed. If EDMD and BMD are suspected, for example, an electrocardiogram may be needed to test cardiac function.

For most forms of muscular dystrophy, an accurate diagnosis is not difficult to establish. However, there are exceptions. Even with a biopsy, it can be difficult to differentiate between FSH and another muscle disease, polymyositis. Muscular dystrophy in children with early HFMD is often mistaken for the much more common DMD, especially when it occurs in boys. Early-onset MMD is very similar to DMD. Muscular dystrophy in children may be mistaken for one of the motor neuron diseases, for example, spinal muscular atrophy; diseases of the neuromuscular junction (myasthenia gravis); and other muscle diseases.

Treatment of muscle dystrophy

In fact, there are no specific medications to treat any type of muscular dystrophy. Prednisone and corticosteroids are indicated to delay the progression of DMD to some extent. Prednisolone is also prescribed for BMD.

Treatment for muscular dystrophy is primarily aimed at preventing complications, including decreased mobility, dexterity, contractures, scoliosis, heart defects, and respiratory failure.

Physical therapy, particularly regular stretching, is used to maintain range of motion in affected muscles and to prevent or delay contracture. Braces are used more often on ankles and legs. Strengthening other muscle groups to compensate for weakness may be possible if the affected muscles are small and isolated, and in the early stages of milder types of muscular dystrophy. Regular exercise, meanwhile, helps maintain overall health. Serious physical activity is generally not recommended.

When contractures become more severe, surgery may be performed.

Denial of responsibility: The information presented in this article about muscular dystrophy in children is intended for the reader's information only. It is not intended to be a substitute for advice from a healthcare professional.