Becker's Dystrophy

The disease has a genetic character and is inherited from one of the parents of the patient by a recessive trait that is attached to the X chromosome. Becker's dystrophy is a genetic disease that was first described by Becker in 1955.

Sources say that Becker's dystrophy occurs in three or four boys out of a hundred thousand born.

This type of dystrophy is a purely male disease, leading to disability at a young age. Due to its genetic nature, the disease is incurable and in some cases ends in a lethal outcome for a man.

Sometimes Becker's dystrophy is confused with a similar disease - Duchenne's dystrophy. This disease, of course, is similar to the latter, but is less severe in symptoms and its consequences. The appearance of the first symptoms of the disease refers to the age of ten. At the same time, only some of the sick by the age of sixteen are forced to use the wheelchair as a means of transportation. At the same time, more than ninety percent of people with this type of dystrophy can live more than 20 years of age. Duchenne's dystrophy is characterized by a more severe picture of symptoms, so it is important to distinguish these diseases and correctly diagnose the patient.

The disease is characterized by the appearance of muscle weakness in the muscles, which are located at the closest distance to the trunk.

The disease is characterized by the appearance of the first symptoms at the age of ten to fifteen years. In some children Becker's muscular dystrophy appears earlier.

Symptoms that characterize the initial stage of the disease are characterized by the appearance of muscle weakness, as well as pathological muscle fatigue at the existing physical exertion and pseudohypertrophic manifestations in the gastrocnemius muscles.

Atrophic manifestations are symmetrically developed. First of all, the pathological signs of the disease feel the proximal muscle groups located in the lower extremities. These groups include the muscles of the pelvic department and thighs. Then the changes begin to touch the proximal muscle groups of the upper limbs.

Atrophic processes lead to the fact that there are violations of the gait, which begins to resemble a "duck". Also, when a person stands up from the sitting position, the appearance of compensatory myopathic techniques can be observed.

As for the muscle tone, then in the proximal muscle groups, its moderate decrease is noticeable. If you check the deep reflexes of most of the muscles, then they persist for a long time. But this fact does not apply to knee reflexes, which decrease in the early stages of the disease.

With this body problem, there are some cardiovascular disorders that are expressed in moderate dysfunction. Some patients experience pain in the cardiac region. Also sometimes there are manifestations of blockade of the legs of the bundle of His. Among the endocrine disorders that accompany the disease, there may be signs of gynecomastia, as well as a decrease in sexual desire and impotence. Disturbances and pathological changes do not concern the patient's intelligence, which remains normal.

The disease Becker's progressive muscular dystrophy received this name because of a certain circumstance. The disease does not "stand still", but slowly but steadily progresses within ten to twenty years after the discovery of the first symptoms of the disease.

The rate of atrophic manifestation in the muscles is quite low. Therefore, patients can for a long time feel normal and maintain a certain capacity for work.

This type of dystrophy is caused by genetic problems of the nervous system of the male representative, which are caused by hereditary causes. At the same time, degenerative changes begin to appear in the muscle fibers, which proceed against the background of the absence of the primary pathology of the peripheral motoneuron.

[1], [2], [3], [4], [5], [6], [7]

The causes of Becker's dystrophy

Each disease has its own prerequisites for occurrence. The causes of Becker's dystrophy lie in the peculiarities of human genetics.

The recessive gene, which is located on the X chromosome (in the twenty-first locus and in the short arm), becomes the "culprit" of this severe body dysfunction. He undergoes a mutation, and then the above-described genetic disease appears. This is possible because the gene is responsible for the coding of the dystrophin protein necessary for the normal development and functioning of the human muscles. It should be noted that Becker's dystrophy and a more severe type of dystrophy - Duchenne's dystrophy are characterized by problems in different parts of the same gene, but differ in degrees of severity and some manifestations.

Female representatives who have this injured recessive gene can not complain about the development of the disease. Because their genetics are compensatory processes: a healthy gene, which is located on another X-chromosome, can neutralize the activity of the damaged gene. But in representatives of the male part of the population who have given genetic damage, Becker's dystrophy will develop and progress.

Such hereditary anomalies lead to a change in the biochemical processes of the male body. In this case, there is an error in the production of dystrophin, an important muscle protein that is involved in maintaining the structure of muscle cells. This protein is produced by the body, but in an increased size and therefore does not function properly in the body.

Symptoms of Becker dystrophy

With this disease, there are manifestations that occur in a hundred percent of cases, but there are also such signs, which are observed only in a part of patients.

Symptoms of Becker's dystrophy are expressed in the following characteristics of the condition of a teenager or a young man, such as:

• The presence of general weakness - fatigue, fatigue, weakness of the body.
• Slowly, but gradually increasing weakness in the muscles of the legs or the appearance of so-called weakness in the legs.
• Difficulties arise when using the ladder when climbing up.
• Having difficulty getting out of a sitting position.
• Observed problems with gait - the emergence of dysbasia and walking disorders.
• An abnormal rhythm of the functioning of the heart muscle - arrhythmias, which are characterized by malfunctions in the heart rate, as well as interruptions in its work.
• The appearance of pain in the muscles - the muscle tissue of the limbs (legs of the hands), as well as just the pain in the muscles of the body.
• The presence of pain in the legs, which becomes more intense during walking.
• There are twitchings that appear in the leg muscles.
• Frequent stumbling and falling when moving.
• The emergence of shortness of breath during exercise.
• Appearance and sensations of muscle swelling after exercise.

The first two signs are found in all patients, the third symptom is observed in ninety percent of patients, symptom number four and symptom number five are characteristic for eighty percent of adolescents or young men, the sixth sign overcomes forty percent of patients, symptom number seven and symptom number eight is observed in thirty five percent of patients, ninth and tenth signs are characteristic for thirty percent of young men or adolescents, signs number eleven and twelve appear in twenty percent of patients.

Diagnosis of Becker's dystrophy

Like any other disease, this pathology needs a correct and accurate diagnosis.

Diagnosis of Becker's dystrophy occurs as follows:

• In the first place, it is necessary to do genetic research - to undergo DNA diagnostics. Confirm the presence of the disease in genetic analysis is possible if there are manifestations of a recessive X-linked chromosome type of inheritance.
• In biochemical studies, to which serum is exposed, an increased activity of CK is detected from five to twenty times and LGD.
• During the passage of electroneuromyography, the appearance of a primary-muscle type of changes is noted.
• The same changes in tissues are also observed with a biopsy of the muscles of the skeleton, which is also included in the mandatory list of examinations. During the passage of this procedure, primary muscular dystrophy and denervation are documented.
• When an electrocardiogram (ECG) or EchoCG passes, there are violations of artioventicular, and in some cases, intraventricular conduction. In addition, there are manifestations of myocardial hypertrophy, as well as dilation of the ventricles of the heart. Characteristic features of congestive heart failure and cardiomyopathy are characteristic.
• Externally manifested symptoms of the disease are also important, which become visually noticeable from the age of ten to fifteen years of the patient.
• Atrophy is observed initially in the proximal muscle groups.
• For ten to twenty years after the onset of visual symptoms of the disease, a slow but steady progression of dystrophy is observed.
• The disease spreads in the direction of the vertical.
• The lower extremities in the gastrocnemius have strong hypertrophic manifestations, when the calf muscles begin to look very massive.
• Also, the disease is characterized by manifestations of psychosomatic disorders in the moderate stage.

In differential diagnosis, the disease must be distinguished from Duchenne's progressing muscular dystrophy and Erba-Rot's muscular dystrophy. It is also important to distinguish this disease from the spinal amyotrophy of Kugelberg-Welander, as well as from polymyositis, dermatomyositis, metabolic myopathy and hereditary polyneuropathies.

[8], [9], [10], [11], [12]

Treatment of Becker's dystrophy

This kind of dystrophy, like other diseases of a genetic nature, is incurable. Therefore, the treatment of Becker's dystrophy helps to maintain the patient's condition in a more or less viable quality and help the person to keep working, as well as self-reliance for a longer period of life.

It should be noted that the treatment procedures are appointed only by a specialist and after passing the examination procedures and confirming the diagnosis.

As supportive procedures, some types of physical therapy are useful for the use of certain physical exercises, metered taking into account the individuality of the patient. This is necessary to get the ability to prevent shortening of muscles. Also popular is the appointment of symptomatic therapy, in which the patient receives help, based on the bothersome dysfunction in the body.

In some cases, experts advise to resort to surgery to avoid contractures and allow the tendons to lengthen. And, the tendons of those muscles that bring painful sensations are involved.

The main medicines that are used as maintenance therapy include the following:

• Prednisolone - refers to the systemic glucocorticosteroids. Its use makes it possible to delay the onset of muscle weakness. The dosage of the drug is as follows: it is administered within twenty to eighty milligrams per day, which are divided into three or four doses. For maintenance doses, the recommended intake is five to ten milligrams per day.
• Methylandrostenediol - refers to anabolic steroid drugs. It is taken in sublingual form (under the tongue until the drug dissolves in the oral cavity). For adults, the dosage is twenty-five to fifty milligrams per day, and for children, from one or one and a half milligrams per kilogram of the patient's weight per day. All these doses of the drug are divided into three or four receptions.
• ATP is a drug that can lead to improved muscle trophism. It is used intramuscularly and its dosage is an injection of one milliliter of a 1% solution of the drug from one to two times a day. The usual course of treatment with the drug ATP is from thirty to forty injections. Repeated therapy must be completed in one or two months.

Also, modern researchers and practitioners are actively trying to find a way in gene therapy that would help the muscles to start producing dystrophin again. That will restore their normal state and functioning.

Prophylaxis of Becker's dystrophy

The prevention of Becker's dystrophy, basically, is to prevent the appearance of a person with such a serious and incurable disease as much as possible.

Specialists strongly recommend the passage of genetic tests for members of those families where there were cases of Becker disease. Such studies are conducted in genetic counseling, while assessing the degree of risk of the disease in future children.

Parents who already have children should contact specialists if they notice the following manifestations of dysfunction in their sons:

• Lag in the first year of life in motor development.
• Presence of fast fatigability of the boy, which is constant and does not pass with the child's growing up.
• With the emerging difficulties with the rise of the ladder in boys from three to five years.
• If a boy from three to five years of age does not want or can not run.
• At often observed falls at boys of the same age.
• If a teenager's male pod at the age of ten to fifteen years has a permanent and rapid muscle fatigue.
• When observed in adolescents of the age described above, the increase in gastrocnemius muscles.

With the available signs, you need to turn to neurologists or neurologists and geneticists. • A person who already has a progressive history of Becker's dystrophy should resort to all supporting procedures from the moment of her appearance in order to stave off the appearance of muscle weakness and dystrophy. These include feasible exercises in physiotherapy, physical therapy, and the intake of recommended medications. This was discussed in more detail in the section dealing with the treatment of the disease.

Forecast of Becker's dystrophy

The prognosis of the development of the disease with Becker's dystrophy is as follows:

• A number of young men (but a small percentage) need to use a wheelchair by the age of sixteen.
• Twenty-year-old line passes more than ninety percent of young men and avoid a fatal outcome.
• With the use of supporting procedures, which were mentioned above, you can delay the appearance of muscle atrophy and the acquisition of disability.

Becker's dystrophy is a serious hereditary disease, which has nothing to do with improper care of a child. Therefore, the parents of such a child should take the situation as it is. And also to look for adequate methods that support the health of your child.

[13], [14]