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-cingulate 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 various 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 genetic disease, that is, 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

Diagnosis of muscular dystrophy involves a thorough examination medical history patient and a thorough medical examination. Family history may provide important clues since all types of muscular dystrophy are genetic.

Laboratory diagnostic tests for muscle dystrophy 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 of 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 exercise, as a rule, are 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.

They are distinguished by the selective distribution of weakness and the specific nature of genetic abnormalities.

Becker's dystrophy, although closely related, has a later onset and causes milder symptoms. Other forms include Emery-Dreyfuss dystrophy, myotonic dystrophy, limb girdle dystrophy, facioscapulohumeral dystrophy, and congenital dystrophies.

Duchenne muscular dystrophy and Becker muscular dystrophy

Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. Becker's dystrophy has a later onset and causes milder symptoms. Treatment is aimed at maintaining function through physical therapy, braces, and orthotics; Prednisolone is prescribed to some patients with severe functional impairment.

In Duchenne dystrophy, this mutation leads to a severe absence of (<5%) дистрофина, белка мембраны мышечных клеток. При дистрофии Беккера мутация приводит к образованию ненормального дистрофина или малому его количеству. Дистрофия Дюшенна поражает 1/3000 родившихся мужчин. Дистрофию Беккера выявляют у 1/30 000 родившихся мужчин. У женщин-носителей может быть выражено бессимптомное повышение уровня креатинкиназы и, возможно, гипертрофия задней части голени.

Symptoms and signs

Duchenne dystrophy. This disorder usually appears between 2 and 3 years of age. Weakness affects the proximal muscles, usually first in the lower extremities. Children often walk on their toes, have a waddling gait and lordosis. The progression of weakness is steady, and flexion contractures of the limbs and scoliosis develop. Reliable pseudohypertrophy develops. Most children become wheelchair bound before the age of 12. Cardiac involvement is usually asymptomatic, although 90% of patients have ECG abnormalities. One third of them have mild, non-progressive intellectual impairment, which affects verbal abilities more than productivity.

Becker's dystrophy. This disorder usually manifests symptoms much later and is milder. The ability to walk usually lasts until at least 15 years of age, and many children remain mobile into adulthood. Most victims live into their 30s and 40s.

Diagnostics

• Dystrophin immunostaining. i DNA analysis for mutations.

The diagnosis is suspected based on characteristic clinical features, age of onset, and family history suggesting X-linked recessive inheritance. Myopathic changes are visible on electromyography (motor unit potentials rise rapidly, have short duration and low amplitude) and on muscle biopsy (necrosis and marked changes in the size of muscle fibers not separated from the motor units). Creatine kinase levels are 100 times higher than normal.

The diagnosis is confirmed by dystrophin analysis with immunostaining of biopsy specimens. Dystrophy is not found in patients with Duchenne dystrophy. Analysis of DNA mutations in peripheral blood leukocytes can also confirm the diagnosis by detecting disorders in the dystrophin gene (about 65% of patients have deletions or duplications and about 25% have point mutations).

Treatment

• Supportive measures.
• Sometimes prednisolone.
• Sometimes corrective surgery.

There is no specific treatment. Moderate exercise is recommended for as long as possible. An ankle brace will help prevent flexion while you sleep. Leg orthotics may temporarily help maintain your ability to stand and walk. Obesity should be avoided; caloric needs will likely be lower than usual. Genetic counseling is indicated.

Daily prednisone does not produce significant long-term clinical improvement but may slow the progression of the disease. There is no consensus on long-term effectiveness. Gene therapy has not yet been developed. Corrective surgery is sometimes necessary. Respiratory failure can sometimes be treated with non-invasive respiratory support (via a nasal mask). Elective tracheotomy is becoming increasingly accepted, allowing children with Duchenne dystrophy to live into their 20s.

Other forms of muscular dystrophy

Emery-Dreyfus dystrophy. This disease can be inherited in an autosomal dominant, autosomal recessive (the rarest) or X-linked manner. The overall frequency is unknown. Women can be carriers, but only men have clinically apparent disease in X-linked inheritance. Genes associated with Emery-Dreyfuss dystrophy encode the nuclear membrane proteins lamin A/C (autosomal) and emerin (X-linked).

Signs of muscle weakness and wasting can appear any time before the age of 20 and usually affect the biceps, triceps and, less commonly, the distal leg muscles. The heart is often involved with atrial fibrillation, conduction disturbances (atrioventricular block), cardiomyopathy and a high likelihood of sudden death.

Diagnosis is indicated by clinical findings, age of onset, and family history. As well as mildly increased serum levels of creatine kinase and myopathic signs on electromyography and muscle biopsy. The diagnosis is confirmed by DNA testing.

Treatment includes therapy aimed at preventing contractures. Pacemakers are sometimes vital in patients with abnormal conduction.

Myotonic dystrophy. Myotonic dystrophy is the most common form of muscular dystrophy in the white population. It occurs with a frequency of about 30/100,000 live male and female births. Inheritance is autosomal dominant with variable penetrance. Two genetic loci - DM 1 and DM 2 - cause abnormalities. Symptoms and signs begin in adolescence or young adulthood and include myotonia (delayed relaxation after muscle contraction), weakness and wasting of distal limb (especially arm) and facial muscles (ptosis is especially common), and cardiomyopathy. Mental retardation, cataracts and endocrine disorders may also develop.

The diagnosis is indicated by characteristic clinical findings, age of onset, and family history; The diagnosis is confirmed by DNA testing. Treatment includes the use of an orthopedic device for foot drop and drug therapy for myotonia (for example, mexiletine 75-150 mg orally 2-3 times a day).

Limb girdle dystrophy. Currently, there are 21 known subtypes of limb girdle dystrophy: 15 autosomal recessive and 6 autosomal dominant. The overall frequency is unknown. Several chromosomal loci have been identified for autosomal dominant (5q [gene product unknown)) and recessive (2q, 4q [, 13q [γ-sarcoglycan], 15Q [calpain, Ca-activated proteases], and 17q [α-sarcoglycan or adgalin] ) forms. Structural (eg, dystrophin-associated glycoproteins) or nonstructural (eg, proteases) proteins may be affected.

Symptoms include weakness in the girdles and proximal limbs. The onset of the disease ranges from early childhood to adulthood; Onset for autosomal recessive types is usually in childhood, and these types are mainly associated with pelvic girdle lesions.

The diagnosis is indicated by characteristic clinical findings, age of onset, and family history; diagnosis also requires determining the histological picture of the muscles, immunocytochemistry, Western blotting and genetic testing for the presence of specific proteins.

Treatment is aimed at preventing contractures.

Facioscapulohumeral dystrophy. The onset of the disease in adolescence or young adulthood is characterized by slow progression: the child has difficulty whistling, closing his eyes and raising his arms (due to weakness of the muscles that stabilize the shoulder blades). Life expectancy is normal. Infantile variations, characterized by weakness of the face, shoulders and hip girdle, progress rapidly.

The diagnosis is indicated by characteristic clinical findings, age of onset, and family history; The diagnosis is confirmed by DNA analysis.

Treatment consists of physical therapy.

Congenital muscular dystrophy. It is not a distinct disorder, but is a congenital disorder classified as one of several rare forms of muscular dystrophy. The diagnosis is suspected in any floppy newborn, but must be differentiated from congenital myopathy by muscle biopsy.

Treatment is physical therapy, which can help preserve muscle function.

Muscular dystrophy (myopathy) is a genetic pathological chronic hereditary neuromuscular disease, which is characterized by the progression of muscle weakness and muscle degeneration (often a decrease in the diameter (thickness) of skeletal muscle fibers, and in some cases, muscle fibers of internal organs). In the process of muscular dystrophy, the affected muscles systematically begin to lose their ability to contract and begin to disintegrate, leaving room for connective and fatty tissues.

The result of the onset and progression of this type of disease is disability, which manifests itself in severe deformation of the spine and loss of its motor ability. This type of disease also affects other body systems - it leads to the development of cardiac and respiratory failure, impairment of intellectual and thinking abilities, memory impairment and loss of learning ability.

Forms of muscular dystrophy

Forms of muscular dystrophy include:

• Duchenne muscular dystrophy. It begins to appear in early childhood from 2 to 5 years. For the most part, the disease affects the male race of humanity. Primary manifestations of weakness include groups of muscle mass of the lower extremities and the pelvic girdle. After a certain amount of time, the disease begins to affect the entire body. Degenerative processes that occur in muscle tissue lead to a significant increase in the volume of the calf muscles. There is a rapid proliferation of adipose and connective tissue. The disease is quite rapid - by the age of 12 a person loses the ability to move normally;
• Becker muscular dystrophy (or benign pseudohypertrophic myopathy, or progressive muscular dystrophy) is a fairly rare form of the disease that mainly affects short people. It does not have very rapid development. For a long period of time, the patient is characterized by a satisfactory state of health. The occurrence of disability occurs solely against the background of other injuries or diseases;
• Erb's muscular dystrophy. Begins to develop between the ages of ten and twenty years. It is characterized by damage to the muscles from top to bottom - from the appearance of destructive processes in the muscles of the shoulder girdle, pelvic muscles, to the muscles of the lower extremities. The patient is identified by his characteristic gait and posture - when walking, the patient waddles, has a protruding stomach and a sternum pushed back. Does not have very rapid development;
• myotonic form of muscle dystrophy. It often affects males and females aged 20 to 40 years. Some cases of this form of the disease can occur in infancy. The myotonic form of muscle dystrophy is caused by a slowdown in the process of muscle relaxation after the act of contraction and softening of facial muscles. Characteristic of this form of muscle dystrophy is damage to both skeletal and internal muscles (especially the heart, lower and upper extremities). Has a sluggish flow;
• scapulohumeral-facial form of Landouzy-Dejerine muscle dystrophy. It often affects males and females aged 6-52 years. The main risk group includes adolescents 10-15 years old. It is characterized by the process of degeneration of the facial muscles, and then the body and limbs. The first symptoms include incomplete closure of the lips and eyelids, deterioration of diction. The patient's ability to work remains for a long time. But after 15-25 years, atrophy of the muscles of the pelvic girdle occurs, which leads to impaired motor function.

Causes of muscular dystrophy

The causes of muscular dystrophy are not yet fully understood. Among the main reasons, they talk about a mutation in a gene that is responsible for the ability of muscle cells to produce special proteins.

As of today, scientists have discovered the gene that causes Duchenne pathology. It is located on the X chromosome. The defective gene is passed on from a mother to her son, in whom the development of the disease begins between the ages of two and five years.

The reasons for the development of this type of disease in women also include changes in hormonal levels that occur due to pregnancy, the onset of the menstrual cycle and menopause.

Symptoms of muscular dystrophy

The very first symptoms of this type of disease begin to appear in early childhood (from about 2 years old). The first symptoms appear are that the child often falls, gets tired quite quickly even with minimal physical exertion, and is clumsy in his movements. The first symptoms are especially noticeable against the background of peers and peers.

The manifestation of muscular dystrophy in children of the first year of life is accompanied by the appearance of a sharp degradation in development in comparison with the initial vital activity and growth. The child loses previously acquired skills - loss of the ability to hold his head and roll over on his own. Often the life expectancy of such babies does not exceed three years.

The development of this disease in adults is accompanied by a decrease in muscle tone, which leads to impaired gait, atrophy of skeletal muscles, a constant feeling of fatigue, and absence of muscle pain. At the same time, muscular dystrophy leads to the growth and enlargement of the calf muscles.

Diagnosis of muscular dystrophy

During the diagnostic process, the doctor collects a family history, which includes identifying the presence of this type of pathology in loved ones and relatives, identifying the nature of dystrophy. Data collection contributes to the development of a further prognosis for the patient.

The doctor prescribes electromyography, with the help of which the electrical activity of muscle tissue is examined (primary muscular dystrophy is detected, a tissue sample is taken for testing for the presence of degenerative changes in tissue and fat deposits).

Modern equipment makes it possible to conduct immunological and molecular biological tests, which help determine the likelihood of developing this type of disease in children.

Treatment of muscular dystrophy

Muscular dystrophy is an incurable disease. All therapeutic measures should be aimed at curbing destructive processes that occur in the human muscular system. For this purpose, the patient is prescribed B vitamins, corticosteroids and adenosine triphosphates.

Drugs developed on the basis of fetal stem cells help to inhibit (slightly stop) the degeneration process.

An effective method for muscle dystrophy is the use of physiotherapy (a set of specialized physical exercises), which helps to minimize the development of deformities and contractures.

Effective methods include the use of therapeutic massage.

If there is a risk of damage to the muscles of the respiratory system, breathing exercises are performed.

Prevention of muscular dystrophy

Examining a woman for the presence of pathological genes (especially if one of her relatives has the disease) is an integral part of the pregnancy planning process. Detection of a defective gene is possible even in the fetus during its intrauterine development. For these purposes, anatomical fluid, fetal cells and blood are studied.

Every person's muscles perform many important functions. Thanks to them, we carry out a variety of activities, move around, and have the opportunity to walk. However, in some cases their activity is disrupted. There are a number of chronic muscle diseases that lead to the development of increasing muscle weakness and degeneration of muscle fibers. Doctors characterize this condition with the term “muscle dystrophy.” Let’s talk about how this disease is treated, what symptoms are characteristic of this pathology, and what are the known causes of its development.

Why does muscle dystrophy begin, what are the reasons for this process?

There are a number of different factors that can provoke the development of muscular dystrophy in humans, but not all of them are known to doctors. In some cases, the occurrence of such a pathology is the result of a mutation in a gene that is responsible for the ability of muscle cells to synthesize the necessary proteins. This is how scientists discovered the Duchenne dystrophy gene; it is located on the sex X chromosome. From women, this gene is passed on to their children, but mothers most often do not suffer from this pathology. Boys, having received such a gene from their mother, experience the first manifestations of muscular dystrophy between the ages of two and nine years. Some varieties of this condition have nothing to do with sex chromosomes and occur equally in women and men.

In some cases, muscular dystrophy develops in people when it is necessary to give up movement - with prolonged immobilization of a limb, following bed rest, etc.

What indicates the disease “muscle dystrophy”, what are its symptoms?

Muscular dystrophy can present with many symptoms. So such a pathological condition leads to a significant decrease in muscle tone. Patients experience a change in gait, which is explained by weakness of the leg muscles. Over time, a child affected by dystrophy gradually loses all the physical skills that he managed to acquire before the onset of the disease. For example, first the child loses the ability to walk, then to sit, then to hold his head, etc.

With muscular dystrophy, there is a complete absence of muscle pain, skeletal muscles gradually atrophy, but this does not affect sensitivity in any way.
The development of pathological processes is accompanied by frequent falls, in addition, patients complain of constant fatigue.

As the disease progresses, there is a gradual and continuous increase in muscle size, especially the calf muscles. This is explained by the proliferation of connective tissue in places of dead muscle fibers.

How is muscle dystrophy corrected, what treatment will help?

As practice shows, doctors are unable to completely cope with muscular dystrophy, however, all therapeutic measures during such treatment are aimed at maximizing alleviation of the manifestations of the disease and preventing complications.

Treatment of such a pathological condition should be comprehensive. So, to stimulate muscle activity, the doctor prescribes corticosteroids to the patient. Prednisone is often the drug of choice. In the acute course of the disease, this composition must be taken at a dose of 0.02-0.08 g. Afterwards, the dosage can be reduced to 0.005-0.01 per day.

The duration of therapy is selected individually. With this treatment, patients need to adhere to a dietary diet, including more protein and calcium salts in their diet. If particularly long-term treatment is necessary, patients are also advised to take anabolic hormones, for example, methylandrostenediol. This composition is available in the form of tablets that need to be dissolved under the tongue. Adults should take it at 0.025-0.05 g per day, children's dosage is selected individually. The duration of therapy with methylandrostenediol should be three to four weeks, then you need to take a break for two to three weeks and repeat the course again.

For muscular dystrophy, treatment also involves taking medications designed to eliminate spasms of muscle tissue. These may be compounds such as diphenin or carbamazepine.

Adults need to take 0.02-0.8 g of diphenine per day, and for children the dosage is selected depending on age. Reception is carried out during a meal or immediately after it.

Carbamazepine is consumed without reference to meal times, washed down with water. Adults are usually prescribed 100-200 mg of the drug, after which the dosage is gradually increased to approximately 400 mg per day. Children are usually prescribed 20-60 mg of the composition per day at first, after which the dosage can be increased.

In many cases, treatment of muscular dystrophy also involves the use of a variety of dietary supplements. So, taking Creatine has a good effect, which helps increase muscle volume and helps them cope with stress. Doctors often advise consuming coenzyme Q10, which improves overall muscle endurance.

Treatment of muscular dystrophy also includes exercise therapy; stretching exercises are especially useful. Patients are shown massages and breathing exercises. If the disease is advanced, surgical intervention may be performed.

Unfortunately, today there is no way to treat muscular dystrophy. However, timely diagnosis of this pathological condition and adequate treatment in most cases can slow down the course of the disease.

Ekaterina, www.site

P.S. The text uses some forms characteristic of oral speech.

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 in especially severe cases, muscle fibers of 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 study normally and assimilate 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 the mechanisms that trigger 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 growth and functioning of muscles 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 cause of 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 drink alcohol or use 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

Studying the development of progressive muscular dystrophy over the centuries, doctors have identified the following types of disease:

• 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 treatment methods 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 sooner 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, which is characteristic of Duchenne malignant muscular dystrophy. 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 limbs 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.

An experienced doctor, when looking at a patient, 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 lifestyle. Modern medications and physical therapy will help to visually smooth out the manifestations of scapulohumeral-facial muscular dystrophy.

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 mental retardation and 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 fitness 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 the nutrition of their children 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." A steroidal anabolic agent that supports protein synthesis at a high level. 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. It 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. A very effective remedy that allows patients to not 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.