Becker's dystrophy

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

Sources claim that Becker's dystrophy occurs in three to four boys out of one 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 fatally 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 patients by the age of sixteen are forced to use a wheelchair as a means of transportation. At the same time, more than ninety percent of those sick with this type of dystrophy can live more than twenty years. Duchenne's dystrophy is characterized by a more severe picture of the manifestation 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 that are located closest to the body.

The disease typically begins to show symptoms between the ages of ten and fifteen. In some children, Becker muscular dystrophy appears earlier.

The symptoms that characterize the initial stage of the disease are characterized by the appearance of muscle weakness, as well as pathological muscle fatigue during physical exertion and pseudo-hypertrophic manifestations in the calf muscles.

Atrophic manifestations develop symmetrically. First of all, the pathological signs of the disease are felt by the proximal muscle groups located in the lower extremities. These groups include the muscles of the pelvic region and thighs. Then the changes begin to affect the proximal muscle groups of the upper extremities.

Atrophic processes lead to gait disturbances, which begin to resemble a "duck". Also, when a person gets up from a sitting position, one can observe the appearance of compensatory myopathic techniques.

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

With this problem of the body, 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 the blockade of the legs of the bundle of His. Among the endocrine disorders that accompany the disease, signs of gynecomastia are possible, as well as decreased sexual desire and impotence. Disorders and pathological changes do not affect the patient's intelligence, which remains normal.

The disease progressive muscular dystrophy Becker received this name due to a certain circumstance. The disease does not "stand still", but slowly but steadily progresses over ten to twenty years after the first symptoms of the disease are detected.

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

This type of dystrophy is caused by genetic problems of the nervous system of a male representative, which are due to hereditary reasons. In this case, degenerative changes begin to appear in muscle fibers, which occur against the background of the absence of primary pathology of the peripheral motor neuron.

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Causes of Becker's dystrophy

Each disease has its own prerequisites for its occurrence. The causes of Becker's dystrophy are hidden 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 dysfunction of the body. It undergoes mutation, and then the above-described genetic disease appears. This becomes possible because this gene is responsible for encoding the dystrophin protein, which is necessary for the normal development and functioning of human muscles. It should be noted that Becker's dystrophy and a more severe type of dystrophy - Duchenne dystrophy are characterized by problems in different areas of the same gene, but differ in severity and some manifestations.

Females who have this damaged recessive gene cannot complain about the development of the disease. Since compensatory processes occur in their genetics: a healthy gene, which is located on another X chromosome, allows neutralizing the activity of the damaged gene. But in males who have these genetic damages, Becker's dystrophy will develop and progress.

Such hereditary anomalies lead to changes in the biochemical processes of the male body. In this case, errors are observed 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 correctly in the body.

Symptoms of Becker's dystrophy

This disease has manifestations that occur in one hundred percent of cases, but there are also signs that are observed only in some patients.

Symptoms of Becker's dystrophy include the following characteristics of the adolescent or young male's condition, such as:

• The presence of general weakness - fatigue, tiredness, weakness of the body.
• Slowly but gradually increasing weakness in the leg muscles or the appearance of so-called leg weakness.
• Difficulties encountered when using stairs when climbing up.
• Having difficulty getting up from a sitting position.
• Observed gait problems include the development of dysbasia and gait disorders.
• Disturbed rhythm of the functioning of the heart muscle - arrhythmia, which is characterized by disruptions in the heart rhythm, as well as interruptions in its work.
• The appearance of pain in the muscles - muscle tissue of the limbs (legs, arms), as well as just pain in the muscles of the body.
• The presence of pain in the legs, which becomes more intense as you walk.
• Existing twitching that manifests itself in the leg muscles.
• Frequent trips and falls that occur when moving.
• The occurrence of shortness of breath during physical exertion.
• The appearance and sensation of muscle swelling after physical activity.

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

Diagnosis of Becker's dystrophy

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

Diagnosis of Becker dystrophy occurs as follows:

• First of all, it is necessary to do genetic research - undergo DNA diagnostics. The presence of the disease can be confirmed by genetic analysis if manifestations of the recessive X-linked type of inheritance are detected.
• Biochemical studies of blood serum reveal increased activity of CPK from five to twenty times and LHD.
• When undergoing electroneuromyography, the appearance of primary muscular type changes is noted.
• The same changes in tissues are observed during a biopsy of skeletal muscles, which is also included in the mandatory list of examinations. During this procedure, primary muscular dystrophy and denervation are diagnosed.
• When performing an electrocardiogram (ECG) or echocardiography, disturbances of artioventricular conduction are observed, and in some cases, intraventricular conduction. In addition, there are manifestations of myocardial hypertrophy, as well as dilation of the ventricles of the heart. In this case, signs of congestive heart failure and cardiomyopathy are characteristic.
• Also important are the externally manifested symptoms of the disease, which become visually noticeable from the age of ten to fifteen years.
• Atrophy is initially observed specifically in the proximal muscle groups.
• Over the course of ten to twenty years from the onset of visual symptoms of the disease, a slow but steady progression of dystrophy is observed.
• In this case, the disease spreads in a vertical direction.
• The lower limbs in the calf region have strong hypertrophic manifestations, when the calf muscles begin to look very massive.
• The disease is also characterized by manifestations of psychosomatic disorders at a moderate stage.

In differential diagnostics, the disease must be distinguished from progressive Duchenne muscular dystrophy and Erb-Roth muscular dystrophy. It is also important to distinguish this disease from Kugelberg-Welander spinal muscular atrophy, as well as from polymyositis, dermatomyositis, metabolic myopathy and hereditary polyneuropathies.

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Treatment of Becker's dystrophy

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

It should be noted that treatment procedures are prescribed only by a specialist and after examination procedures and confirmation of the diagnosis.

As supportive procedures, some types of physiotherapy are useful - the use of certain physical exercises, dosed taking into account the individuality of the patient. This is necessary to be able to prevent muscle shortening. Also popular is the appointment of symptomatic therapy, in which the patient receives help based on the dysfunctions in the body that bother him.

In some cases, specialists recommend resorting to surgical intervention to avoid contractures and allow the tendons to lengthen. Moreover, the tendons of precisely those muscles that cause pain are involved.

The main medications used as maintenance therapy include the following:

• Prednisolone is a systemic glucocorticosteroid. Its use allows to delay the appearance of muscle weakness for a while. The dosage of the drug is as follows: it is taken orally from twenty to eighty milligrams per day, which are divided into three or four doses. For maintenance doses, it is recommended to take from five to ten milligrams per day.
• Methylandrostenediol is an anabolic steroid. It is taken sublingually (under the tongue until the drug is completely absorbed in the oral cavity). For adults, the dosage is twenty-five to fifty milligrams per day, and for pediatric patients - from one or one and a half milligrams per kilogram of the patient's weight per day. All indicated doses of the drug are divided into three or four doses.
• ATP is a drug that can improve muscle trophism. It is administered intramuscularly and its dosage is an injection of one milliliter of a one percent solution of the drug one to two times a day. The usual course of treatment with ATP is thirty to forty injections. The therapy must be repeated after one or two months.

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

Prevention of Becker's dystrophy

Prevention of Becker's dystrophy mainly consists of preventing, as much as possible, the birth of a person with such a serious and incurable disease.

Experts strongly recommend genetic testing for members of families with a history of Becker's dystrophy. Such studies are conducted in genetic consultations, and the degree of risk of the disease in future children is assessed.

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

• Delay in motor development in the first year of life.
• The presence of rapid fatigue in a boy, which is constant and does not go away as the child grows older.
• When boys aged three to five years experience difficulty climbing stairs.
• If a boy between three and five years of age does not want or cannot run.
• In cases of frequent falls observed in boys of the same age.
• If a male teenager between the ages of ten and fifteen experiences constant and rapid muscle fatigue.
• When observing an increase in the calf muscles in a teenager of the above-described age.

If there are signs, it is necessary to contact neurologists or neuropathologists and geneticists. • A person who already has a history of progressive Becker's dystrophy should, from the moment it appears, resort to all supportive procedures to delay the onset of muscle weakness and dystrophy. These include feasible exercise therapy, physiotherapy, and taking recommended medications. This was discussed in more detail in the section on the treatment of the disease.

Becker dystrophy prognosis

The prognosis for the development of the disease in Becker dystrophy is as follows:

• A number of young men (but only a small percentage) require the use of a wheelchair by the age of sixteen.
• More than ninety percent of young men pass the twenty-year mark and avoid death.
• By using the supportive procedures mentioned above, the onset of muscle atrophy and disability can be delayed.

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

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