Muscular dystrophy, or, as it is also called by doctors, myopathy is a disease of a genetic nature. In rare cases, it develops for 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 adipose tissue and connective cells.
The following symptoms of muscular dystrophy are characteristic of the progressive stage:
- reduced pain threshold, and in some cases, almost complete immunity to pain;
- muscle tissue has lost its ability to contract and grow;
- with some varietiesdiseases - pain in the muscles;
- skeletal muscle atrophy;
- incorrect gait due to underdevelopment of the muscles of the legs, 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, because he simply does not have the strength to be on his feet - this symptom is typical for female patients;
- constant chronic fatigue;
- in children - inability to study normally and assimilate new information;
- change in muscle size - decrease in varying degrees;
- gradual loss of skills in children, degenerative processes in the psyche of adolescents.
The reasons for its appearance
Medicine still cannot name all the mechanisms for triggering muscular dystrophy. One thing can be stated with absolute certainty: all the reasons lie in a change in the set of dominant chromosomes that are responsible in our body for protein and amino acid metabolism. 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 a mutation:
- X-chromosome mutation is a common cause of Duchenne muscular dystrophy. When a mother carries such damaged gene material, we can say that with a probability of 70% she will pass the disease on to her children. At the same time, 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 muscular underdevelopment: lower back-limbs, as well as shoulder-blade-face.
Diagnosis of disease
Diagnostic measures are varied. There are many ailments that resemble the manifestations of myopathy in one way or another. Heredity is the most common cause of muscular dystrophy. Treatment is possible, but it will be long and difficult. Be sure to collect information about the patient's daily routine, about the lifestyle. How he eats, whether he eats meat and dairy products, whether he uses alcoholic beverages or drugs. This information is especially important in the diagnosis of muscular dystrophy in adolescents.
Such data is needed 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;
- muscle scraping for analysis;
- genetic testing to determine the patient's heredity.
Disease types
Exploring the development of progressive muscular dystrophy over the centuries, doctors have identified the following types of illness:
- Becker's Dystrophy.
- Shoulo-scapulo-facial muscular dystrophy.
- Duchenne Dystrophy.
- Congenital muscular dystrophy.
- Limb-lumbar.
- Autosomal dominant.
These are the most common forms of the disease. Some of them can be successfully overcome today thanks to the development of modern medicine. Some have hereditary causes, chromosome mutation and therapy are not amenable.
Consequences of illness
The result of the emergence and progress of myopathies of various genesis and etiology is disability. Severe deformity of the skeletal muscles and spine leads to a partial or complete loss of the ability to move.
Progressive muscular dystrophy often leads to kidney, heart and respiratory failure as it progresses. In children - to mental and physical developmental delay. In adolescents - to impaired intellectual and mental abilities, stunting, dwarfism, memory impairment and loss of learning ability.
Duchenne
This is one of the hardest forms. Alas, modern medicine has not been able to help patients with progressive Duchenne muscular dystrophy to adapt to life. Most patients with this diagnosis are disabled since childhood and do not live beyond the age of thirty.
Clinically, Duchenne muscular dystrophy appears as early as two to three years of age. Children cannot play outdoor games with their peers, they get tired quickly. Often there is a lag in growth, in the development of speech and cognitive functions. By the age of five, muscle weakness and underdevelopment of the skeleton in a child become completelyobvious. The gait looks strange - weak leg muscles do not allow the patient to walk smoothly, without staggering from side to side.
Parents need to start sounding the alarm as soon as possible. Make as soon as possible a series of genetic tests that will help to accurately establish the diagnosis. Modern methods of treatment will help the patient lead an acceptable lifestyle, although they will not fully restore the growth and function of muscle tissue.
Becker's Dystrophy
This form of muscular dystrophy was investigated by Becker and Keener back in 1955. In the world of medicine, it is referred to as Becker muscular dystrophy, or Becker-Kener.
Primary symptoms are the same as the Duchenne form of the disease. The reasons for development also lie in the violation of the gene code. But unlike Duchenne dystrophy, Becker's form of the disease is benign. Patients with this type of disease can lead almost full-fledged life and live to an advanced age. The sooner the disease is diagnosed and treatment is started, the more likely it is for the patient to live a normal human life.
There is no slowdown in the development of human mental functions, characteristic of malignant muscular dystrophy in the form of Duchenne. With the disease under consideration, cardiomyopathy and other abnormalities in the functioning of the cardiovascular system are very rare.
Shoulo-scapulo-facial dystrophy
This form of the disease progresses quite slowly, has a benign type of course. Most often, the first manifestations of the diseasenoticeable at the age of six or seven years. But sometimes (about 15% of cases) the disease does not manifest itself until thirty or forty years. In some cases (10%), the dystrophy gene does not awaken at all during the entire life of the patient.
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, the curved shoulder arch - all this indicates weakness or complete dysfunction of the anterior serratus, trapezius and rhomboid muscles. Over time, the process includes the biceps, posterior deltoid.
An experienced doctor, when looking at a patient, may get a misleading impression that he has exophthalmos. The function of the thyroid gland at the same time remains normal, the metabolism is most often not affected. The intellectual capabilities of the patient are also, as a rule, preserved. The patient has every opportunity to lead a full, he althy lifestyle. Modern medicines and physiotherapy will help to visually smooth out the manifestations of shoulder-blade-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 occurrence, with an incidence of 1 in 10,000, but this statistic is underestimated as this form of the disease often goes undiagnosed.
Children born to mothers with myotonic dystrophy often suffer from what is known as congenital myotonic dystrophy. She manifestsweakness of the facial muscles. In parallel, neonatal respiratory failure, interruptions in the work of the cardiovascular system are often observed. Often you can notice a mental retardation, a delay in psycho-speech development in young patients.
Congenital muscular dystrophy
In classic cases, hypotension is noticeable from infancy. Characterized by a decrease in muscle and bone tissue in volume along with contractures of the joints of the arms and legs. In the analyzes, the activity of serum CK is increased. A biopsy of affected muscles reveals a pattern that is standard for muscular dystrophy.
This form is not progressive, the patient's intelligence almost always remains intact. But, alas, many patients with a congenital form of muscular dystrophy cannot move independently. Respiratory failure may develop later. Computed tomography sometimes reveals hypomyelination of the white matter layers of the brain. This has no known clinical manifestations and most often does not affect the adequacy and mental viability of the patient.
Anorexia and mental disorders as precursors of muscle disease
The refusal of many adolescents to eat causes irreversible dysfunction of muscle tissue. If amino acids do not enter the body within forty days, the processes of synthesis of protein compounds do not occur - muscle tissue dies by 87%. Therefore, parents should monitor the nutrition of children so that they do not follow the newfangled anorexic diets. ATA teenager's diet should include meat, dairy, and plant-based protein sources daily.
In cases of advanced eating disorders, complete atrophy of some muscle areas can be observed, and kidney failure often appears as a complication, first in acute and then in chronic form.
Treatment and drugs
Dystrophy is a serious chronic hereditary disease. 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 to treat muscular dystrophy:
- "Prednisone". Anabolic steroid that supports a high level of protein synthesis. With dystrophy, it allows you to save and even build up the muscle corset. It is a hormonal remedy.
- "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. Has a minimum of side effects, is actively used for therapy in childhood and adolescence.
- Growth hormone injectable is one of the newest remedies for muscle atrophy and stunting. A very effective remedy that allows patients to stand out in no way outwardly. For the best effect, it must be taken inchildhood.
- "Creatine" is a natural and practically safe drug. Suitable for children and adults. Promotes muscle growth and prevents their atrophy, strengthens bone tissue.
