Muscular dystrophy, or, as doctors call it, 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?
In the process of this disease, the muscles gradually lose their ability to contract. There is a gradual decay. Muscle tissue is slowly but inevitably replaced by adipose tissue and connective cells.
For the progressive stage, the following symptoms of muscular dystrophy are characteristic:
- reduced pain threshold, and in some cases, practical complete immunity to pain;
- muscle tissue has lost its ability to contract and grow;
- in some varieties of the disease - pain in the muscle area;
- skeletal muscle atrophy;
- improper gait due to underdevelopment of the leg muscles, degenerative changes in the feet due to inability to withstand the load when walking;
- the patient often wants to sit down and lie down, as he simply does not have the strength to be on his feet - this symptom is characteristic of female patients;
- persistent chronic fatigue;
- in children - the inability to study normally and absorb new information;
- muscle change in size - a decrease in one degree or another;
- gradual loss of skills in children, degenerative processes in the psyche of adolescents.
Reasons for its appearance
Medicine still cannot name all the mechanisms of triggering muscle dystrophy. One thing can be absolutely confidently stated: 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 assimilation, there will be no normal growth and functioning of muscles and bone tissue.
The course of the disease and its form depends on the type of chromosomes that have undergone mutations:
- Mutation of the X chromosome is a common cause of Duchenne muscular dystrophy. When a woman-mother carries such damaged genetic material, it can be said that with a 70% probability she will transmit the disease to her children. However, it often does not suffer from pathologies of muscle and bone tissue.
- Myotonic muscular dystrophy is manifested due to a defective gene belonging to the nineteenth chromosome.
- Sex chromosomes do not affect the localization of muscle underdevelopment: the lower back, limbs, and also the shoulder-scapula-face.
Diagnosis of the disease
Diagnostic measures are diverse. There are many ailments, reminiscent of one or another indirect sign of manifestation of myopathy. Heredity is the most common cause of muscle dystrophy. Treatment is possible, but it will be long and complicated. Be sure to collect information about the regimen of the patient's day, about the lifestyle. How does he eat, does he eat meat and dairy products, does he use alcohol or drugs. This information is especially important in the diagnosis of muscle dystrophy in adolescents.
Such data is necessary to draw up a plan for the implementation of diagnostic measures:
- electromyography;
- MRI, computed tomography;
- muscle biopsy;
- additional consultation of an orthopedist, surgeon, cardiologist;
- blood test (biochemistry, general) and urine;
- muscle tissue scraping for analysis;
- genetic testing to identify the patient’s heredity.
Types of disease
Investigating for centuries the development of progressive muscular dystrophy, doctors have revealed the following types of ailment:
- Becker Dystrophy.
- Shoulder-scapular-facial muscular dystrophy.
- Duchenne dystrophy.
- Congenital muscular dystrophy.
- Limb belt.
- Autosomal dominant.
These are the most common forms of the disease. Some of them are successfully overcome today thanks to the development of modern medicine. Some have hereditary causes, chromosome mutations and therapies are not amenable.
The consequences of the disease
The result of the occurrence and progress of myopathies of various genesis and etiology is disability. Serious deformation of the skeletal muscles and spine leads to a partial or complete loss of 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 mental abilities, stunting, dwarfism, memory impairment and loss of learning ability.
Duchenne Dystrophy
This is one of the most difficult forms. Alas, modern medicine has not been able to help patients with progressive Duchenne muscular dystrophy adapt to life. Most patients with this diagnosis have a disability since childhood and do not live longer than thirty years.
Clinically, Duchenne muscular dystrophy appears at the age of two to three years. Children cannot play outdoor games with their peers, they tire 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 completely obvious. The gait looks strange - the weak muscles of the legs 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. Make as soon as possible a series of genetic tests that will help to establish a diagnosis with accuracy. 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 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-Keener.
The primary symptoms are the same as those of the Duchenne disease form. The reasons for the development also lie in the violation of the gene code. But unlike Duchenne dystrophy, the form of the disease according to Becker is benign. Patients with this type of disease can lead almost full-fledged life activities and live to an advanced age. The sooner you diagnose the disease and begin treatment, the greater the likelihood for the patient of a normal human life.
There is also no slowdown in the development of human mental functions, characteristic of malignant muscular dystrophy in the form of Duchenne. With the disease in question, cardiomyopathy and other abnormalities in the work of the cardiovascular system are very rare.
Shoulder-shoulder-facial dystrophy
This form of the disease progresses rather slowly, has a benign type of 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 in any way until thirty or forty years. 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 lagging of the shoulder blade 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 dentate, trapezoid and rhomboid muscles. Over time, the biceps muscles, the posterior deltoid, are included in the process.
When looking at a patient, an experienced doctor may have a deceptive impression of having exophthalmos. At the same time, thyroid function remains normal, and metabolism is most often not affected. The intellectual abilities of the patient are also usually preserved. The patient has all the opportunities to lead a full, healthy lifestyle. Visually smooth out the manifestations of the shoulder-scapular-facial muscle dystrophy will help modern drugs and physiotherapy.
Myotonic dystrophy
Inherited in 90% of cases by an autosomal dominant type. It affects muscle and bone tissue. Myotonic dystrophy is a very rare phenomenon, the frequency of its appearance is 1 in 10,000, but these statistics are underestimated, since often this form of the disease remains undiagnosed.
Children born to mothers with myotonic dystrophy often suffer from the so-called congenital myotonic dystrophy. It is manifested by weakness of the facial muscles. In parallel, neonatal respiratory failure, interruptions in the cardiovascular system are often observed. Often you can notice a lag in mental development, a delay in psycho-speech development in young patients.
Congenital muscular dystrophy
In classical cases, hypotension is already noticeable from infancy. A decrease in muscle and bone tissue in volume along with contractures of the joints of the arms and legs is characteristic. In the analyzes, the activity of serum QC is 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 a congenital form of muscular dystrophy cannot move independently. Respiratory failure may be added later. Computed tomography sometimes helps to detect hypomyelination of the layers of the white matter 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
Refusal of many adolescents from eating carries an irreversible dysfunction of muscle tissue. If amino acids do not enter the body within forty days, protein synthesis processes do not occur - muscle tissue dies by 87%. Therefore, parents should monitor the nutrition of children so that they do not follow the trendy anorexic diets. In the diet of a teenager, meat, dairy products and vegetable sources of protein should be present daily.
In cases of advanced eating disorders, complete atrophy of some muscle areas can be observed, and renal failure, first in acute and then in chronic form, often appears as a complication.
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 ailment in order to make patients' lives as comfortable as possible.
List of drugs necessary for patients to treat muscular dystrophy:
- Prednisone An anabolic steroid that maintains high protein synthesis. With dystrophy, it allows you to save and even build muscle corset. It is a hormonal agent.
- "Diphenin" 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 anabolic effect. It has a minimum of side effects, is actively used for therapy in childhood and adolescence.
- Injectable growth hormone is one of the newest remedies for muscle atrophy and stunting. A very effective tool 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.