Symptoms of muscular dystrophy in different forms of the disease. Muscular dystrophy: types, features, symptoms, diagnosis, treatment

There are a number of forms muscular dystrophy. They differ in characteristics such as the age at which the disease begins, the location of the affected muscles, the severity of muscle weakness, the rate of progression of dystrophy and the type of its inheritance. The two most common forms are Duchenne muscular dystrophy and myotonic muscular dystrophy.

Duchenne muscular dystrophy

(pseudohypertrophic muscular dystrophy) is the most common form of this disease in children. The cause of the disease is a genetic defect localized on the X chromosome (one of the two chromosomes that determine a person’s sex). Women with a defective gene pass it on to their children, but they themselves usually have no symptoms of dystrophy. Boys who receive the defective gene inevitably develop muscle weakness between the ages of two and five.

The large muscles of the lower extremities and pelvic girdle are primarily affected. Degeneration then spreads to the muscles of the upper half of the body, and then gradually to all major muscle groups. A characteristic manifestation of the disease is pseudohypertrophy of the calf muscles, i.e. their increase due to fat deposition and proliferation of connective tissue. In contrast, with true muscle hypertrophy, the volume of muscle tissue itself increases.

Duchenne muscular dystrophy is one of the most severe and rapidly progressing forms. By the age of 12, patients usually lose the ability to move, and by the age of 20, most of them die.

Myotonic muscular dystrophy

(Steinert's disease) is the most common form of muscular dystrophy in adults. It is caused by a defective gene on chromosome 19. Men and women are affected equally and can pass the genetic defect on to their children. The disease manifests itself at any age, including infancy, but most often between 20 and 40 years. The first symptoms are myotonia (slow muscle relaxation after contraction) and weakness of facial muscles; Damage to the muscles of the limbs and other parts of the body is also possible. The progression of the disease occurs slowly in most cases, and complete disability may occur no earlier than after 15 years.

The peculiarity of this disease is that in addition to voluntary muscles, it also affects smooth muscles and cardiac muscle.

Pathomorphology.

All forms of muscular dystrophy are characterized by degeneration of the muscles, but not the associated nerves. The affected muscle tissue shows various changes, including significant variations in the thickness (diameter) of muscle fibers. Gradually, these fibers lose their ability to contract, disintegrate and are replaced by fatty and connective tissue.

Diagnosis.

In terms of their clinical manifestations, muscular dystrophies are similar to spinal amyotrophies - hereditary diseases affecting motor neurons spinal cord. These diseases also lead to severe muscle weakness, sometimes life-threatening. To confirm the diagnosis of muscular dystrophy, electromyography and sometimes a muscle biopsy with microscopic examination may be required to identify characteristic dystrophic changes.

Causes.

Experts believe that each form of muscular dystrophy is caused by a separate point genetic defect that impairs the ability of muscle cells to synthesize the necessary proteins. Research efforts are focused on finding the defects that underlie diseases and the abnormalities in protein composition that these defects lead to. The gene for Duchenne muscular dystrophy has now been identified.

Treatment.

There is no way to prevent or slow the progression of muscle weakness in muscular dystrophy. Therapy is mainly aimed at combating complications, such as spinal deformity, which develops due to weakness of the back muscles, or a predisposition to pneumonia due to weakness of the respiratory muscles. Some progress has been made in this direction, and the quality of life of patients with muscular dystrophy has improved. Now many patients, despite their illness, can lead full and productive lives.

Muscular dystrophy is part of a group of diseases that cause degeneration of skeletal muscles and joints. There are no drugs to treat it yet, although there are effective medical treatments that can slow the progression of the disease. Symptoms may be mild, but in severe cases the disease impairs reflexes and leaves the patient unable to walk.

Types of muscular dystrophy

More than 30 types of muscular dystrophy have been identified, of which 9 are the most common:

• Duchenne muscular dystrophy is the most common form, developing mainly in young men;
• Becker's dystrophy - by the age of forty the patient loses the ability to move independently;
• myotonia – symptoms appear more often in adults (or in children during late childhood);
• congenital dystrophy - diagnosed immediately after birth or in the first months of life;
• limbo-cingulate – typical for teenagers and young people (20-25 years old), affects the muscles of the hips and shoulders;
• humeroscapulofacial – causes weakening of the facial muscles, shoulder muscles, loss of the ability to raise arms, problems with speech, tachycardia;
• distal – the disease is characterized by weakness of the arms and lower extremities;
• Emery-Dreyfus dystrophy - for women it is dangerous due to cardiac paralysis; in children (mainly boys), in addition to the heart, the calf muscles and the upper shoulder girdle are affected;
• Charcot's disease (and other degenerative diseases) can also cause symptoms similar to muscular dystrophy.

Of these 9 forms of muscular dystrophy, the most commonly diagnosed are:

1. Duchenne dystrophy. Symptoms appear in early childhood(up to 5 years). The disease is diagnosed in one in 3,500 newborn boys. It is the most common fatal genetic disorder. Women can be carriers of a gene that has undergone a mutation, but do not themselves suffer from this disorder. Degenerative changes block a protein (dystrophin) that maintains structural elements muscle tissue and cell membranes. Without dystrophin, muscle weakness progresses, causing immobility and death.
2. Becker's dystrophy. Although dystrophin production is maintained in this disease, the level of rod protein is significantly lower than normal. Muscular dystrophy develops by 12 years of age. The disease develops more slowly, but the damage is significant: curvature of the spine, difficulty breathing, constant fatigue, weakness, heart disease, cognitive problems.

Main symptoms of dystrophy

Although all disorders are related, each type of dystrophy is caused by a unique gene mutation, so the symptoms and time of onset of the disease vary:

• a loss muscle mass(the problem gets worse with age);
• damage to the lower extremities (further weakness spreads to the muscles of the neck, shoulders, back, chest);
• progressive exhaustion;
• enlargement of the calf and deltoid muscles;
• decreased flexibility, endurance, fatigue;
• impaired coordination and synchronization of movements;
• falls (due to loss of coordination and muscle weakness);
• joint stiffness, pain when moving;
• replacement of fibrous tissue with muscle tissue;
• difficulty squatting, bending, climbing stairs;
• abnormal skeletal development (curvature of the spine, poor posture);
• range of motion decreases (to the point of complete paralysis);
• pneumonia develops, other problems with work respiratory system, cardiac activity is impaired, which can lead to death (with Duchenne dystrophy).

Dystrophy is inherited. However, in 35% of cases, the disease is provoked by spontaneous gene mutation due to impaired protein production. Men are at greater risk due to having one X chromosome. The Y chromosome (another sex chromosome found in men) does not have a copy of the dystrophin gene and has no effect on the development of muscular dystrophy.

In women, the risk of dystrophy is reduced due to the presence of two X chromosomes. Even if one of the chromosomes is abnormal, the healthy gene can produce enough dystrophin. The probability of inheriting a defective gene is 50%.

Diagnosis of muscular dystrophy

When diagnosing dystrophy, the following is carried out:

• physical exam – flexibility is tested, muscle strength, range of motion and other characteristics of the patient are tested;
• electromyography – studies electrical activity within muscles;
• electrocardiogram;
• muscle biopsy - allows you to determine what type of dystrophy is developing;
• magnetic resonance imaging - shows which organs and tissues are affected.

Women can take a test when planning a pregnancy to know whether the defective gene is present or not. A blood test can determine the presence of enzymes associated with abnormal muscle development.

Treatment of muscular dystrophy

Treatment depends on the type of dystrophy. Becker and Duchenne dystrophy are incurable, but there are remedies to manage the symptoms of the disease. The more techniques are combined (including diet, emotional and physical therapy, drug support), the better the result.

Therapy may include:

• taking steroids (to combat muscle weakness and relieve pain symptoms), albuterol (if you have asthma), medications that improve heart function (angiotensin, beta blockers), proton pump inhibitors, dietary supplements to maintain energy and muscle mass;
• use of orthopedic products (braces, wheelchairs);
• treatment of speech pathology (if the face and tongue are affected).

Natural Methods for Managing Muscular Dystrophy

Physical activity

It is important to try to maintain muscle flexibility and strength. Passive mode and lack of basic exercise aggravate the symptoms of the disease and contribute to the development of complications and emotional distress. Physical therapy is helpful to maintain flexibility and coordination of the body. Mobility can be increased using orthopedic inserts, a corset, a cane, an electric scooter, a stroller, or you can move with the support of an assistant.

For joint pain, to improve balance, reduce anxiety, and maintain range of motion, swimming, yoga, and stretching exercises are useful (special practices have been developed for those suffering from muscular dystrophy; you can find them on the Internet or from a doctor).

Psychological support

Healthy diet

Some food chemical substances affect the human genome and change the structure of genes, provoking the occurrence or progression of chronic diseases, development of complications. Inflammatory processes are supported by depleted useful substances(or overloaded with processed foods) diet, lack physical activity, stress. These factors reduce the body's ability to protect cells from degeneration, accelerate aging, and lead to loss of bone density.

Although an anti-inflammatory diet cannot cure muscular dystrophy, it will significantly slow down the progression of the disease. This diet reduces inflammation, alkalizes the body, lowers glucose levels, helps remove toxins, and provides nutrients.

Nutrition principles:

• replacing “bad” fats with “good” ones – giving up hydrogenated oil (soybean, canola), trans fats, introducing healthy saturated and unsaturated fats (olive, sunflower, coconut, flaxseed, sesame oil, avocado, omega-3 fats);
• selection of organic meat products (without antibiotics, hormones);
• eliminating refined sugar and gluten.

The best anti-inflammatory foods are leafy vegetables, bok choy, celery, beets, broccoli, blueberries, pineapple, salmon (wild), bone broth, walnuts, turmeric, ginger, chia seeds.

Except clean water, useful herbal teas, freshly squeezed juices, natural lemonade, fruit drinks, kvass. As for dairy products, it is permissible to leave goat milk (cheese, yogurt made from it) and sheep cheese on the menu.

It is important to eliminate the possibility of toxins entering the body not only from food, but also from household chemicals and cosmetics, choosing natural products.

Muscle Support Supplements

As prescribed by a doctor, the following dietary supplements can be used for muscular dystrophy:

• amino acids (carnitine, coenzyme Q10, creatinine) – contribute to the production of protein necessary for muscle support;
• glucosamine and chondroitin – fight joint pain;
• antioxidants (vitamins C, E, A) – good for the heart, joints and muscles;
• green, matcha tea (extracts) – support energy levels;
• omega-3 acids, fish oil – resist inflammation;
• prebiotics – improve digestion.

Essential oils

Peppermint, frankincense, ginger, turmeric, and myrrh oils help reduce swelling, relieve pain and other symptoms caused by degeneration of muscles, tissues and joints. Effective in the treatment of depression, lavender, chamomile, grapefruit, and sandalwood oils to relieve anxiety. You can add the oil drop by drop to a humidifier diffuser, take baths with it, and use it for massage.

If any alarming signs are detected (numbness of the face, impaired speech, gait, sudden weakness, decreased flexibility), it is necessary to undergo an examination. Early intervention will slow down the progression of the disease and reduce Negative influence symptoms of muscular dystrophy on quality of life.

The fact is that I looked into the electron microscope and saw(shown in white in the image) between muscle fibers(Red color).

On the picture: muscle fiber biopsy for mild (A), moderate (B) and severe myopathy (C):

On the picture: normal muscle fibers healthy person:

Using the example of my patient who suffered. Emine's diagnosis: severe muscular dystrophy, confirmed by biopsy. Next, I will describe my approach to eliminating muscle weakness. I recommend watching a video on the topic of treatment of progressive Duchenne muscular dystrophy.

Muscular dystrophy is a disease of disruption of the creation of the protein that creates the framework of the muscle cell.

1. Holes form in the cell frame. Vital compounds and trace elements leak out of these holes. To patch up holes, the cell is forced to produce substances that are larger than these holes. The cell “swells” from the inside, i.e. swelling.
2. Increasing swelling puts pressure on muscle cells from the outside, pushing cell nuclei and mitochondria to the periphery.
3. The level of creatine phosphokinase in the cell increases and the muscle loses its ability to bind and retain creatine.
4. Creatine is needed by mitochondria to produce energy in the muscle cell.
5. Mitochondria reduce ATP production. ATP is the energy needed to operate the motor proteins actin and myosin. No energy - no movement.
6. Inside the muscle fiber, which is without movement, its own nutrition processes slow down.
7. The fiber membrane begins to secrete enzymes and amino acids that it does not need without the function of movement. Therefore, the theory of “defective membranes” arose.
8. During muscle movement, these enzymes and amino acids are needed. Their synthesis requires energy, which is not available. Therefore, muscle weakness occurs.
9. Muscle fiber atrophy begins.

Symptoms

The disease muscular dystrophy begins with the development of weakness and atrophy certain group muscles. Over the years, the dystrophic process captures more and more new muscle groups. This happens until complete immobility. The main symptom of myodystrophy is damage to the muscles of the pelvic, shoulder girdle and torso of the patient. The thigh muscles and shoulder muscles are affected in severe cases, which is what happened to the patient Emine: she could not stand up without support and walk, even short distances.

Muscular dystrophies bilateral

IN initial period Myodystrophy may predominate on one side, but as the disease develops, the degree of damage becomes the same in the patient’s symmetrical muscles. As the disease progresses, muscle strength decreases in almost all muscles. Areas of hypertrophic muscles appear on the body of a patient suffering from muscular dystrophy. This is pseudohypertrophy, which is not associated with an increase in muscle fibers. Pseudohypertrophy of muscles is associated with swelling in the muscles of the legs or arms. Such muscles are dense, but weak.

Forms of muscular dystrophy in adults

All figurative forms of the disease in question in adults differ:

• types of inheritance;
• the speed and nature of its flow;
• the presence or absence of tendon retractions and pseudohypertrophies;
• timing of the start of the process;
• the unique topography of muscle pain;
• other signs of progressive muscular dystrophy.

Issues of classification of myopathy (chronic and progressive hereditary muscle diseases) are being developed in different directions. Muscular dystrophy in adults is classified according to the type of inheritance:

1. Autosomal dominant.
2. Autosomal recessive.
3. Dominant and recessive.
4. Linked to the X chromosome.

Examination for myopathy

Clinical signs characteristic of muscular dystrophy are symptoms of flaccid paralysis in different groups muscles of a sick person without signs of damage to motor neurons and peripheral nerves. Neurologists the whole world cannot explain this.

Doctor Nikonov

My opinion: protein swelling between muscle fibers makes muscle movement impossible.

Not knowing this phenomenon bewilders doctors all over the world: “How is this possible? The muscle fiber is intact and undamaged. “Are motor neurons and peripheral nerves intact, in their proper places, and perfectly transmitting impulses from the brain to the muscles and from the muscles to the brain, but movements are difficult?”

Neurologists An electromyography is ordered. And again it’s a mystery to them: there are no changes in the structure of the muscle fiber. A decrease in the amplitude of the M-response, increased interference and polyphasic potential indicates difficulty in muscle movement without any pathology!

Pathological picture of the disease

Let's see what happens inside muscle cells in patients suffering from Duchenne muscular dystrophy. To do this, we will make an incision in the skin, expand it with an expander and take a small piece of muscle fiber.

A typical sign of muscular dystrophy is primarily a different diameter of muscle fibers. In a healthy person, the diameter of the muscle fibers is the same.

Characteristic signs of muscular dystrophy are atrophied and hypertrophied fibers, multiple internal nuclei and edema.

Examining stained sections of skeletal muscle, I observed denervation of myofibers, significant variation in myofibril size, and significant edema.

Explanation for the first photo:

• The pale purple color is muscle fibers in cross-section.
• Light spots both inside and outside the fibers are swelling.
• Dark dots are nuclei that the edema has shifted to the periphery.

In the second photo normal muscle fiber of a healthy person is shown.

Severity of muscular dystrophy according to electron microscopy data, it is guided by the following indicators:

• at mild degree the difference in the size of muscle fibers is moderate, initial signs of edema (white color).

On the picture: muscle fiber biopsy for mild (A), moderate (B) and severe dystrophy (C).

• average degree severity corresponds to the movement of nuclei to the center of muscle fibers, expansion of the interfibrillar space due to increased edema between the cells.

On the picture: muscle fibers in progressive muscular dystrophy of moderate severity:

a) light purple muscle fibers;

b) light spots inside the muscle fibers - swelling, which has pushed the nuclei from the center of the cell to the periphery;

c) dark dots - muscle cell nuclei;

d) the arrow shows a muscle cell that cannot move due to a decrease in metabolic processes - darkens towards purple.

• severe characterized by extensive foci of destruction of myofibrils, their fragmentation and disorganization, the appearance of hyaline-like substance and edema between muscle cells. Functionally, such tissue has weak strength, fatigue sets in quickly and signs of muscle fatigue develop. The photo will be presented a little lower.

This is the state of Emine’s muscles before contacting me:

Explanation of the photo“severe muscular dystrophy”:

1. Muscle fibers in section are colored blue.
2. The red dots are the nuclei of muscle cells.
3. The swelling is uncolored white.

Clinical picture of muscular dystrophy

Emine's first sign of Duchenne myopathy was weakness. She began to get tired during normal physical activity. Emine's earliest complaints were:

1. Fatigue when running, long walking.
2. Emine began to fall often.
3. Myalgia began to appear in the legs (pain in the muscle area), sometimes in combination with painful spasms.
4. Gradually walking began to become difficult.

Emine could not get up from the low chair without using her hands. When getting up, the woman resorted to using auxiliary techniques: “standing up with a ladder”, “climbing on one’s own” - Govers’ technique. A few years later, Emine could not get up from her haunches without help. The patient could not climb stairs.

After my influence on Emine’s muscles, she rises to the 17th floor without using her hands, immediately takes the elevator down and rises again to the 17th floor without getting tired!

Muscle atrophy develops mainly in the pelvic girdle and thighs (therefore, the emendic effect on Emine’s muscles was aimed at these areas).

The muscles of the upper limbs begin to atrophy later. Emine said that she could not pour herself tea or comb her hair. See the results of treatment for muscular dystrophy in the video below:

Muscular dystrophy in children is a hereditary disease. Fiber function is impaired. This pathology can be inherited. Only supportive therapy can significantly improve the child's condition. Therapy consists of prescribing physiotherapeutic procedures.

If you study all types of dystrophy, there are a huge number of them. But all of them are quite rare. There are four types of dystrophies:

• Myopathy of pseudohypertrophic origin;
• Becker's disease;
• Myotonia of congenital origin;
• Dystrophy of the shoulder muscles and degeneration of the gas area.

The most common among all dystrophies is myopathy of pseudohypertrophic origin. Often found in boys, this pathology is not diagnosed in girls. According to statistics, it occurs in every three thousand children. The first signs of the disease appear in early childhood. Next, the decline in muscle fiber function progresses, which leads to a decrease in activity.

As for Becker's disease, it is less common than the previous pathology. Clinical manifestations are more sparse and even difficult to diagnose at first. But, one way or another, the child becomes disabled.

If myotonia of dystrophic or congenital origin is diagnosed, then first of all the child has difficulty breathing - this is a fundamental symptom. After which, all muscle groups of the patient immediately begin to weaken. Both girls and boys get sick equally.

Among all dystrophies, the most rare type is damage to the muscles of the shoulder and gastrointestinal tract. A very severe pathology, the quality of life of the baby worsens.

Causes

If a boy develops muscular dystrophy, the outcome is extremely unfavorable. Such patients live up to a maximum of 22 years. If a child is diagnosed with Becker's disease, the outcome is disability. If 20 years pass from the onset of the disease, then the person’s activity sharply deteriorates, even to the point of being confined to a chair.

As for myotonia of congenital origin, such children do not live long. But there were cases when newborns survived the first day, then they could live for another 15 years, but no more.

Absolutely all types of pathology arise due to some failures in the genetic chain. If you go into detail, the structure on the X chromosome is disrupted. This unit is responsible for the production of a protein such as dystrophin. It is necessary for the formation of normal muscle tissue function. If there is a malfunction in this protein, then dysfunction of the fibers and the entire ligamentous apparatus of the body occurs.

In this disease, the female sex is the “carrier” of the pathological gene. Girls very rarely get sick. This is due to the fact that the female sex has two X chromosomes. Based on this, compensation occurs from the second X chromosome.

Once the defective gene is passed on to the fetus male, then the boy begins to get sick. This is because males have one X chromosome. Therefore, compensation from the second chromosome will never be possible.

If the sons are direct carriers of the pathological gene, then the chances of passing it on become about 50%. And about 50% of all girls are carriers of muscular dystrophy. There have been occasional cases where a child fell ill, but this pathology was not observed in the family.

Diagnostics

Identify in children early age the disease is not difficult. It is enough to study the medical history of the sick child and conduct a clinical examination. For accuracy, the doctor takes the patient’s blood and studies it in the laboratory. If observed increased amount in the blood of creatine phosphokinase, then one can suspect that the child is sick. IN in good condition this enzyme is found in the patient's muscle fibers.

Also used for diagnostics:

• Electromyography (accurately detects the activity of the electrical potential of muscle tissue);
• Echocardiogram (to exclude cardiac pathology, because the heart is a muscle);
• Muscle fiber biopsy.

A biopsy is taken from the child in order to study structural changes in the fibers. This may be a decrease in collagen or the presence of excess tissue deposition of fatty origin.

Treatment

IN present time It is impossible to completely stop the disease. There aren't any medicines or other procedures to restore the affected areas of the fibers.

Therapeutic therapy for this pathological process is aimed at stopping the progression of destruction. For this purpose it is prescribed:

• ATP preparations;
• Corticosteroids;
• Physiotherapy;
• Prevention of the development of scoliosis, as well as leg contractures.

If you follow these steps, you can slow down the development of the disease. Treatment should be carried out only after the recommendation of a doctor. If you do not follow all the specialist’s insistence or do not treat the child at all, it may result in death.

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Prevention

In order to prevent this disease in future offspring, there are some recommendations. These include:

• If the mother plans to become pregnant, then it is necessary to conduct a laboratory test to determine the presence of genes of pathological origin in the body. You also need to carefully study family tree to rule out muscular dystrophy.
• Examine the father for the presence of pathological genes. After all, this also plays important role to prevent the birth of a sick child.
• Strict adherence to all preventive measures in case of complications in the patient.

If you follow the preventive points, you can exclude the appearance of children with this disease.

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

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

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

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

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

For example:

The frequency and type of diseases varies by country:

Causes of the disease and treatment

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

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

For example:

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

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

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

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

Symptoms of the disease

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

Characteristics of the most common pathologies

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

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

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

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

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

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

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

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

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

Research and progress

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

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

Possible progress

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

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

Disease families

There are generally two main families of MDs:

Evolution of dystrophy

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

Possible complications

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

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

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

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