Muscular dystrophy, or, as doctors also call it, myopathy, is a disease of a genetic nature. In rare cases, it develops due to external reasons. Most often, this is a hereditary disease, which is characterized by muscle weakness, muscle degeneration, a decrease in the diameter of skeletal muscle fibers, and especially severe cases- muscle fibers internal organs.

What is muscular dystrophy?

During this disease, the muscles gradually lose their ability to contract. There is a gradual disintegration. Muscle tissue is slowly but inevitably replaced by fatty tissue and connective cells.

The progressive stage is characterized by the following:

  • reduced pain threshold, and in some cases, almost complete immunity to pain;
  • muscle tissue has lost its ability to contract and grow;
  • in some types of the disease - pain in the muscle area;
  • skeletal muscle atrophy;
  • abnormal gait due to underdevelopment of the leg muscles, degenerative changes in the feet due to the inability to withstand the load when walking;
  • the patient often wants to sit down and lie down, since he simply does not have the strength to stand on his feet - this symptom is typical for female patients;
  • constant chronic fatigue;
  • in children - the inability to learn and assimilate normally new information;
  • change in muscle size - reduction to one degree or another;
  • gradual loss of skills in children, degenerative processes in the psyche in adolescents.

Reasons for its appearance

Medicine still cannot name all trigger mechanisms muscular dystrophy. One thing can be said with complete confidence: all the reasons lie in a change in the set of dominant chromosomes, which are responsible for protein and amino acid metabolism in our body. Without adequate protein absorption, there will be no normal muscle growth and function and bone tissue.

The course of the disease and its form depend on the type of chromosomes that have undergone mutation:

  • X chromosome mutation is a common cause of Duchenne muscular dystrophy. When a woman-mother carries such damaged genetic material, we can say that with a 70% probability she will pass the disease on to her children. However, she often does not suffer from pathologies of muscle and bone tissue.
  • Myotonic muscular dystrophy is caused by a defective gene belonging to the nineteenth chromosome.
  • Sex chromosomes do not affect the localization of muscle underdevelopment: lower back-limbs, as well as shoulder-scapula-face.

Diagnosis of the disease

Diagnostic measures are varied. There are many ailments that resemble myopathies in one way or another. Heredity is the most common reason diseases "muscular dystrophy". Treatment is possible, but it will be long and difficult. It is imperative to collect information about the patient’s daily routine and lifestyle. How does he eat, does he eat meat and dairy products, does he consume alcoholic drinks or drugs. This information is especially important when diagnosing muscular dystrophy in adolescents.

Such data is necessary to draw up a plan for carrying out diagnostic measures:

  • electromyography;
  • MRI, computed tomography;
  • muscle tissue biopsy;
  • additional consultation with an orthopedist, surgeon, cardiologist;
  • blood test (biochemistry, general) and urine;
  • scraping of muscle tissue for analysis;
  • genetic testing to determine the patient's heredity.

Types of disease

Having studied the development of progressive muscular dystrophy over the centuries, doctors have identified the following types illness:

  • Becker's dystrophy.
  • Facioscapulohumeral muscular dystrophy.
  • Duchenne dystrophy.
  • Congenital muscular dystrophy.
  • Limb-girdle.
  • Autosomal dominant.

These are the most common forms of the disease. Some of them can now be successfully overcome thanks to the development of modern medicine. Some have hereditary causes; chromosome mutations cannot be treated.

Consequences of the disease

The result of the emergence and progression of myopathies of various origins and etiologies is disability. Severe deformation of the skeletal muscles and spine leads to partial or complete loss of the ability to move.

Progressive muscular dystrophy, as it develops, often leads to the development of renal, cardiac and respiratory failure. In children - to mental and physical developmental delays. In adolescents - to impaired intellectual and thinking abilities, stunted growth, dwarfism, memory impairment and loss of learning ability.

Duchenne dystrophy

This is one of the most severe forms. Unfortunately, modern medicine has not been able to help patients with progressive Duchenne muscular dystrophy adapt to life. Most patients with this diagnosis become disabled from childhood and do not live longer than thirty years.

Clinically manifests itself already at the age of two to three years. Children cannot play outdoor games with their peers and get tired quickly. There is often a delay in growth, speech development and cognitive functions. By the age of five, muscle weakness and skeletal underdevelopment in a child become completely obvious. The gait looks strange - weak leg muscles do not allow the patient to walk smoothly without swaying from side to side.

Parents need to start sounding the alarm as early as possible. Perform a series of genetic tests as quickly as possible to help establish an accurate diagnosis. Modern methods Treatments will help the patient lead an acceptable lifestyle, although they will not completely restore the growth and function of muscle tissue.

Becker's dystrophy

This form of muscular dystrophy was studied by Becker and Keener back in 1955. In the medical world it is called Becker muscular dystrophy, or Becker-Keener muscular dystrophy.

Primary symptoms are the same as those of the Duchenne form of the disease. The reasons for the development also lie in the violation of the gene code. But unlike Duchenne dystrophy, the Becker form of the disease is benign. Patients with this type of disease can lead almost full life activities and live to an old age. The earlier the disease is diagnosed and treatment begins, the greater the likelihood for the patient of an ordinary human life.

There is no slowdown in the development of human mental functions, characteristic of malignant muscular dystrophy in the Duchenne form. With the disease in question, cardiomyopathy and other abnormalities in the functioning of the cardiovascular system are very rare.

Humoscapulofacial dystrophy

This form of the disease progresses quite slowly and has a benign course. Most often, the first manifestations of the disease are noticeable at the age of six to seven years. But sometimes (about 15% of cases) the disease does not manifest itself until the age of thirty or forty. In some cases (10%), the dystrophy gene does not awaken at all throughout the patient’s life.

As the name implies, the muscles of the face, shoulder girdle and upper extremities are affected. The lag of the scapula from the back and the uneven position of the shoulder level, a curved shoulder arch - all this indicates weakness or complete dysfunction of the serratus anterior, trapezius and Over time, the biceps and posterior deltoid muscles are included in the process.

U experienced doctor When looking at the patient, one may get the misleading impression that he has exophthalmos. The function of the thyroid gland remains normal, the metabolism is most often not affected. The patient's intellectual capabilities are also, as a rule, preserved. The patient has every opportunity to lead a full, healthy image life. Modern technologies will help visually smooth out the manifestations of scapulohumeral-facial muscular dystrophy. medicines and physical therapy.

Myotonic dystrophy

Inherited in 90% of cases in an autosomal dominant manner. Affects muscle and bone tissue. Myotonic dystrophy is a very rare phenomenon, its occurrence rate is 1 in 10,000, but this statistics is underestimated, since this form of the disease often remains undiagnosed.

Children born to mothers with myotonic dystrophy often suffer from what is called congenital myotonic dystrophy. It is manifested by weakness of the facial muscles. In parallel, neonatal respiratory failure and interruptions in the functioning of the cardiovascular system are often observed. You can often notice a lag in mental development, delayed psycho-speech development in young patients.

Congenital muscular dystrophy

In classic cases, hypotension is noticeable already from infancy. Characterized by a decrease in muscle and bone tissue volume along with contractures of the joints of the arms and legs. In the tests, serum CK activity was increased. A biopsy of the affected muscles reveals a standard picture for muscular dystrophy.

This form is not progressive; the patient's intelligence almost always remains intact. But, alas, many patients with congenital muscular dystrophy cannot move independently. Respiratory failure may develop later. CT scans can sometimes reveal hypomyelination of the white matter layers of the brain. This has no known clinical manifestations and most often does not in any way affect the adequacy and mental competence of the patient.

Anorexia and mental disorders as precursors of muscle disease

The refusal of many adolescents to eat food results in irreversible dysfunction of muscle tissue. If amino acids do not enter the body within forty days, the processes of protein synthesis do not occur - muscle tissue dies by 87%. Therefore, parents should monitor their children's nutrition so that they do not follow the newfangled anorexic diets. A teenager's diet should include meat, dairy products and plant sources of protein every day.

In cases of advanced eating disorders, complete atrophy of some muscle areas may be observed, and renal failure often appears as a complication, first in acute and then in chronic form.

Treatment and drugs

Dystrophy is a serious chronic disease of a hereditary nature. It is impossible to cure it completely, but modern medicine and pharmacology make it possible to correct the manifestations of the disease in order to make the life of patients as comfortable as possible.

List of drugs needed by patients for the treatment of muscular dystrophy:

  • "Prednisone." Steroid anabolic agent that supports high level protein synthesis. In case of dystrophy, it allows you to maintain and even increase the muscle corset. It is a hormonal agent.
  • "Difenin" is also a hormonal drug with a steroid profile. Has many side effects and is addictive.
  • "Oxandrolone" was developed by American pharmacists specifically for children and women. Like its predecessors, it is a hormonal agent with an anabolic effect. It has a minimum of side effects and is actively used for therapy in childhood and adolescence.
  • Injectable growth hormone is one of the newest remedies for muscle atrophy and stunted growth. Very effective remedy, which allows patients not to stand out externally. For the best effect, it must be taken in childhood.
  • "Creatine" is a natural and practically safe drug. Suitable for children and adults. Promotes muscle growth and prevents their atrophy, strengthens bone tissue.

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 get in reality:

  • 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 the shortage muscle mass 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 pace of development of this genetic disorder are quite large 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 upward and capturing an increasing number of 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 hyperenzymeemia, 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 of 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 the characteristic signs may be that this form, as a rule, affects people who are short in stature. For quite a long time the disease does not make itself felt and the person lives a normal 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 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. Sizes gradually increase calf muscles. 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, clinical analysis blood shows increases in the level of some enzymes in the blood serum, although they 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. A significant difference in the symptoms of this form of the disease is 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 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 average duration The cycle from the onset of the first symptoms to complete disability ranges from 15 to 20 years.

Most often, Erb muscular dystrophy begins to manifest itself with changes in the pelvic-girdle region, as well as 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 the child is three years old. 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 takes over 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, 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 at a fairly mature age is 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.

With 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. 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 benign 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 of muscular dystrophy comes down to 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, the patient begins to take this drug in three to four doses with 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 for patients suffering from such diseases as: thrombophlebitis and thromboembolism, ulcerative manifestations of the stomach and duodenum, osteoporosis, hypertension, pregnancy and some others.

If taking the drug lasts 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 the 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 mellitus, 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 hormonal changes, 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. Through 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

At this stage of medical development, it is impossible to completely prevent muscular dystrophy. But it is possible to take some measures to recognize it in the early stages and quickly begin treatment or supportive therapy (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 on early origin, as well as the disease can be classified as mild forms 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 a loved one out of 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 with positive emotions. The main thing is not to give up, under any circumstances.

Muscular dystrophy– a muscle disease that is characterized by weakening of skeletal muscles, their atrophy, sometimes to death. The disease proceeds without painful sensations and symmetrically throughout the body, sensitivity is not impaired. Muscle dystrophy is a genetic disease.

The disease is explained by the fact that the body is unable to synthesize and absorb the necessary protein for the growth of muscle tissue. As a result, the muscles become weak and begin to atrophy. They gradually stop contracting and disintegrate. In their place, new muscle tissue should be formed, but only adipose and connective tissue appears.

Types and classification

There are several types of muscular dystrophy. They are all similar in action, but differ in the speed of development of the disease and some aspects of its course:

  • Duchenne dystrophy– manifests itself very early, in childhood. The first signs of the disease may appear starting from the age of 2 years of the baby’s life. First, the muscles of the lower extremities and lower back are affected. The child begins to walk poorly: he rolls from side to side. Afterwards, the ability to move is completely lost; usually by the age of 10, children with Duchenne disease are confined to a wheelchair, as muscle tissue is replaced by fatty tissue. Afterwards, dystrophy of the remaining muscles begins. Often by the age of 15, teenagers are not able to raise their arms above their heads. Patients with Duchenne muscular dystrophy often do not live more than 20 years.

There are no preventive measures, since this disease is caused by a disorder and mutation of genes.

  • Steinert's disease. This disease affects people at an older age (from 25 years), but cases have also been recorded in childhood. Steinert muscular dystrophy progresses rather slowly. The peculiarities of this disease are that not only skeletal muscles are affected, but also facial and internal organs. You can live with this disease for quite a long time (up to 50-60 years), as it progresses very slowly.
  • Becker's dystrophy the symptoms are very similar to Duchenne dystrophy, but progresses much more slowly. People live with this disease for a long time. Patients suffer mainly from concomitant injuries and diseases, because Becker’s disease itself progresses slowly. It is quite rare.
  • Erb-Roth disease occurs in adolescence. The muscles begin to atrophy from the shoulders, arms, and then move to the lower back and legs. It becomes difficult for the patient to walk. The disease progresses slowly.
  • Treatment of scapulofacial dystrophy can appear at any age. The disease affects the muscles of the face and shoulders: it is impossible to close the lips and curl them into a tube, it is impossible to completely close the eyelids. The disease progresses slowly, which does not impair ability to work and normal life activities for many years. But after 20-25 years of development of the disease, the muscles of the limbs begin to atrophy, which affects normal movement, making it difficult.

Causes and symptoms

Causes of muscular dystrophy:

  • Muscular dystrophy is a genetic disease.
  • The causes of this disease are mutations of certain genes that are responsible for proper protein synthesis in the body.
  • Each type of dystrophy is caused by mutation of individual genes.

Symptoms of muscular dystrophy

Depending on the type of muscular dystrophy, the symptoms may differ, but they are still general:

  • Weak arms and legs.
  • Change in gait or loss of the ability to walk altogether.
  • Frequent injuries and falls.
  • No pain.
  • Constant fatigue.
  • Loss of many acquired skills: walking, sitting, raising arms, etc.

Treatment of muscular dystrophy

General information:

  • This disease is incurable, so today there are no drugs that can cure dystrophy.
  • Progressive. The main goal is to slow down progressive dystrophy, which is achieved through special physiotherapeutic procedures.
  • Patients are prescribed therapeutic massages and, if possible, physical exercise.
  • All these appointments are individual; they depend on the degree of development and severity of the existing dystrophy.
  • Patients are prescribed intramuscular injections of drugs such as vitamin B1 and corticosteroids.
  • These are substances that are necessary for proper operation and muscle development.
  • They help preserve muscle tissue.
  • There is no cure for the disease, but the right approach can make it easier and increase efficiency and normal functioning.

Possible complications

People with muscular dystrophy often experience complications, here are some of them:

  • Problems with the spine: deformation, pain.
  • Disability.
  • Diseases of the heart and respiratory system.
  • Impaired intellectual abilities, etc.

Patients with muscular dystrophy are prescribed medications to relieve symptoms. These medications cannot cure the disease, but they do stimulate the growth of muscle tissue. Some of them:


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. In addition to 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. So-called muscle pseudohypertrophy develops. Most often this process is noticeable in the calf, gluteal and deltoid muscles, tongue muscles. 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 occurs 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. Children gradually develop increased lumbar curve (lordosis), curvature thoracic the spine to the side (scoliosis) and stoop (kyphosis), 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 heart rhythm disturbances and 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 maladjustment 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 (of the 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 dystrophin protein in the muscle. However, due to improvements in genetic diagnostics in last decades this traumatic procedure 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 repeated pregnancies occur, parents are offered prenatal diagnosis, that is, a study of the genotype of the unborn child in order to exclude hereditary diseases, including Duchenne muscular dystrophy.

For the study, you will need fetal cells that are obtained using various procedures at different stages of pregnancy (for example, chorionic villus sampling, 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 an 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 legs (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) in 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 pathologies of a chronic hereditary nature, which are characterized by a progressive course, as well as permanent histological disorders.

Modern research methods in molecular genetics are actively expanding the understanding and understanding of a large number of types of dystrophy. The most significant of them are the muscular dystrophy of Becker and Duchenne, as well as conditions that are inherited in an autosomal dominant manner, the progressive ophthalmological form of muscular dystrophy.

Until now, no means have been invented that would help completely get rid of muscle dystrophy.

There are four forms of this pathology. The most common diagnosis is Duchenne muscular dystrophy - in half of all cases of pathology. As a rule. The course of the disease begins in childhood and causes death by the age of twenty. Becker muscular dystrophy progresses somewhat more slowly, with patients living up to forty years. Other forms of the disease usually have no effect on human life expectancy.

Etiological factors causing muscle dystrophy

The formation of dystrophy in muscles is due to the influence of different genes. Duchenne and Becker pathologies are caused by genes located on the sex chromosomes. These forms are typical only for males. Other lesions do not correlate with sex chromosomes, so they can affect both men and women.

Main manifestations and signs of disease progression

All types of muscle dystrophy provoke the active development of muscle atrophy, but may vary depending on the severity of the pathology and the time of its formation.

  • Duchenne dystrophy manifests itself already in early childhood - approximately between three and five years. In this case, patients walk with a waddle, have difficulty climbing stairs, often walk out of the blue and cannot run. When a child with this diagnosis raises his arms, his shoulder blades seem to move away from his body. A child with this type of dystrophy is already confined to a wheelchair by the age of 10-12, and the constantly progressive weakening of the muscles provokes death from sudden development of heart failure, insufficiency respiratory processes or infectious lesions.
  • Becker's dystrophy has a large number common features with the previous type of pathology, but it progresses much more slowly. Symptoms of muscular dystrophy begin to appear only at the age of five, and after fifteen years, patients can still retain the ability to walk independently, sometimes even much longer.
  • The scapulohumeral-facial form of muscle dystrophy progresses very slowly, and its course is relatively benign. Basically, the disease makes itself felt at the age of 10 years, but can also manifest itself at the beginning of adolescence. Children with this diagnosis already in infancy suck poorly, and at an older age they are unable to form their lips into a tube or raise their arms above their heads. The face has poor facial expressions when crying or laughing, but facial expressions are still present at times, despite this, they are very different from normal.

In the centers medical care, which are equipped with the most modern technology to carry out immunological and molecular examinations, specialists can accurately determine whether the child will suffer from muscle dystrophy in the future. In such institutions, examinations are also organized for parents and relatives of the child and the presence of genes that determine the formation of Becker or Duchenne muscular dystrophy is revealed.

How is the healing process carried out?

Modern medicine has not yet developed methods for preventing or progressing active development of this pathology. Treatment of muscular dystrophy involves organizing resistance to complications, for example, spinal deformities due to weak back muscles, the body’s tendency to contract pneumonia due to weakened respiratory muscles.

Patients with additional development of heart block may undergo pacemaker implantation. For the treatment of cardiac lesions, it is recommended to take the drug phenigidine. The use of various orthotics allows you to strengthen sagging feet, restore the functioning of the ankle joints, and also reduce the incidence of falls.

Correctly selected training also has a positive effect on the course of the pathology. When atrophy develops, anabolic steroids are used for treatment, as well as general restorative therapy. If the myotonic symptoms of the lesion are severe, a course of treatment with diphenin lasting two to three weeks is prescribed. It is diphenin that presumably inhibits the pathological effect on synaptic conduction and also reduces post-tetanic muscle activity. The drug selegin gives positive results when taken to correct sleep patterns and eliminate high drowsiness.

Effective therapy can only be achieved through gene therapy, which is currently being actively developed. Large quantity Experimental work indicates an improvement in the condition of muscle fibers during the treatment of certain forms of the disease. With the development of Becker and Duchenne dystrophy, there is insufficient production of muscle protein - dystrophin. The gene that is responsible for the formation of this protein is the largest gene known in medicine, and therefore, scientists have recreated a mini version of this gene, and adenoviruses have become the best conductors of the gene into the muscles.