Muscular dystrophy type Becker-Kiener is a genetic disorder of the musculature. The disease progresses at a slower pace and gradually becomes associated with increasing weakness of the muscles. Basically, the muscular dystrophy type Becker-Kiener is relatively rare. The frequency is around 1: 17, 000. The disease occurs primarily in male patients. The first manifestation of the disease usually takes place between the age of 5 and 15 years.

What is muscular dystrophy type Becker-Kiener?

The muscular dystrophy type Becker-Kiener is sometimes referred to by the synonymous term muscular dystrophy Becker. The name of the disease originated in honor of the person who described the disease for the first time. In principle, the muscular dystrophy type Becker-Kiener is a hereditary disease, which is considered a category of muscular dystrophy.

The disease is inherited as an X-linked disease. Because of this, most patients are male. However, about 30 percent of all illnesses are new mutations. Similar to the so-called Duchenne muscular dystrophy, there is a gene defect on the X chromosome.

The corresponding gene is responsible for coding a protein structure of muscles. Due to the defect, the formation of the protein is impaired. For this reason, the protein is limited in its function and fulfills its task only inadequate. In principle, Becker-Kiener muscular dystrophy is milder than Duchenne muscular dystrophy.

Patients usually develop muscular dystrophy type Becker-Kiener between childhood and early adulthood. As a rule, the pelvic girdle is first affected by the disease. In the further course, the muscular dystrophy type Becker-Kiener often expands on the muscles of the shoulder girdle.

In addition, the musculature of the skeleton transforms into connective and fatty tissue. Therefore, the muscles do not make an atrophic impression, even though they have already been affected by the disease. The muscular dystrophy type Becker-Kiener varies considerably from patient to patient. However, the vast majority of affected individuals are able to live relatively normally, despite the disease.

If Becker-Kiener muscular dystrophy is favorable, the patients have an average life expectancy. Otherwise, it is reduced by up to 40 years. In some cases, the muscular dystrophy type Becker-Kiener causes complications. This is usually a so-called cardiomyopathy.

causes

The muscular dystrophy type Becker-Kiener is inherited. Their cause is due to a genetic defect. The defective gene is located on the X chromosome. The disease is transmitted to the children in an X-linked recessive way. As a rule, the gene responsible for the substance dystrophin is affected. Due to the defect, the proportion of functioning dystrophin within the cells of the musculature is reduced.

Histological findings indicate degeneration and muscle cell death. The nuclei of the cells are located in the middle, with the substance fibrous perimysium. In this case, the shrinking tissue of the musculature is compensated by connective and fatty tissue.

Symptoms, complaints & signs

The muscular dystrophy type Becker-Kiener manifests itself in various complaints. At the beginning of the disease, the pelvic girdle is usually affected. This causes cramping in the muscles following physical activity. Myalgia is also possible in this context. In addition, the patients suffer from a weakness of the muscles.

If the Becker-Kiener muscular dystrophy progresses for several years, in some cases it spreads to the shoulder girdle. Since the connective and adipose tissue proliferates, the calf area of ​​the affected persons makes a hypertrophic impression. Contractures on the joints show up when, then mainly at the ankle.

In addition, often complaints of the heart develop. The most common case is cardiomyopathy. As a result, for example, disorders of the heart rhythm occur. However, muscle weakness is not directly related to the impaired myocardium.

Sometimes also a scoliosis develops. However, this symptom usually develops only after the affected person has used a wheelchair for a long period of time. Basically, the muscular dystrophy type Becker-Kiener is characterized by a progressive course.

Diagnosis & disease course

If typical symptoms of muscular dystrophy type Becker-Kiener multiply, consult a doctor. The first step is to conduct the patient interview or the anamnesis. Here the person concerned describes the doctor in detail all complaints. Especially important is the family history, because the muscular dystrophy type Becker-Kiener is a hereditary disease.

After the anamnesis, various clinical examinations are carried out. Blood analyzes, for example, show increased levels of creatine kinase. In the biopsy of muscle tissue characteristic processes are observed. Finally, a genetic analysis provides certainty about the presence of Becker-Kiener muscular dystrophy.

complications

In Becker-Kiener muscular dystrophy, patients suffer from discomfort and weakness of the musculature. Therefore, the disease is associated with significant limitations in everyday life and in the life of the person affected and thus always leads to a reduced quality of life. Especially in children, the Becker-Kiener muscular dystrophy can therefore lead to developmental disorders.

The patients suffer from strong cramps and pain in the muscles and often can not move them. This can lead to restricted mobility and further restrictions in everyday life. Also, the heart muscle is affected by this disease, so it can come to a sudden cardiac death. Patients often suffer from tiredness or fatigue and also from circulatory problems. A self-healing of this disease usually does not occur.

Unfortunately, it is not possible to treat or restrict the muscular dystrophy type Becker-Kiener causally. For this reason, only the symptoms are treated with the help of various therapies. This results in a positive course of the disease, although not all complaints can be completely restricted. Perhaps the life expectancy of the person affected by the muscular dystrophy type Becker-Kiener is reduced.

When should you go to the doctor?

A disturbance of muscle strength can be triggered due to overload or heavy physical stress. If it comes after a long break or a restful night sleep to a significant relief of discomfort or spontaneous healing, no doctor is needed. The self-healing mechanism of the organism has taken over the regeneration of the symptoms, so there is no need for action. If the inconvenience persists for a long time or increases in intensity, a doctor is needed. For pain or cramps, a visit to a doctor is recommended. Decreases the usual physical performance or it comes to an internal weakness, the person needs help. In case of disturbances of the heart rhythm, irregularities of the heartbeat, an internal restlessness or an irritation a doctor visit is advisable.

A general feeling of discomfort or a decrease in well-being should be discussed with a physician. If there are restrictions on mobility, irregularities in everyday movements or an inability to operate the joints without complaint, a visit to the doctor is required. An inconsistency in locomotion, a sudden loss of strength as well as an impairment of gripping ability are indications of a disease. They should be presented to a doctor as soon as possible so that treatment can be quickly relieved by early treatment. Deformation of the joints or bones should be assessed immediately by a physician.

Treatment & Therapy

A cure of the muscular dystrophy type Becker-Kiener is not possible. For this reason, only the symptoms of the disease are treated. Significant here is the physiotherapy. If an ankle contracture occurs, the Achilles tendon may be lengthened as part of a surgical procedure. The disturbances of the heart rhythm are to be treated with appropriate medicines.

Outlook & Forecast

The disease course of the muscular dystrophy type Becker-Kiener is classified as unfavorable. It comes to a progressive development of the disease, the cause of which may not be resolved. Patients suffer from a genetic mutation that can not be treated for legal reasons. Human genetics must not be changed according to the current state of legislation. Therefore, treating physicians focus on alleviating the existing symptoms as well as curbing disease progression. Often, preventative measures are taken to minimize the increase in health problems.

Untreated, an increase in symptoms is expected. The entire musculature of the patient is impaired due to the disorder. Therefore, there is an increased risk of dying of heart failure. The activity of the heart muscle is of immense importance for the functioning of the heart. Without medical care or regular controls, the likelihood of decreased life expectancy increases.

A likewise worsened prospect exists with an acute development of the complaints as well as with lasting disturbances of the Herzrhythmus. If there are other diseases, this has a significant influence on the functioning of the organism. Many patients experience surgery during their lifetime. These are intended to alleviate existing symptoms, resolve disorders of the heart rhythm and thus improve the quality of life.

prevention

The muscular dystrophy type Becker-Kiener represents an inherited disease, so that no preventive measures exist.

aftercare

In Becker-Kiener muscular dystrophy, the measures of direct follow-up are generally severely limited. For this reason, the person concerned must ideally go to a doctor early so that there are no other complications and complaints. The sooner a doctor is visited, the better is usually the further course of the disease.

A self-healing in the muscular dystrophy type Becker-Kiener usually can not be established. The treatment of the disease can be done by taking different medications, and the concerned should pay attention to a regular intake and also to a correct dosage to relieve the symptoms properly and permanently.

In some cases, surgical interventions are necessary to alleviate the symptoms. In such an operation, it is recommended to spare the body from excessive efforts or stressful activities. As a rule, Becker-Kiener muscular dystrophy does not reduce the life expectancy of the affected person.

You can do that yourself

Since the course and symptoms of Becker-Kiener muscular dystrophy are very different, both medical and alternative therapies must be tailored to the individual patient. But even if the damage to the functioning of the muscles are severe, the quality of life of patients can be improved by individual measures of self-help.

An important part to contribute to physical exercises. These can be learned under the guidance of medical professionals such as physiotherapists and occupational therapists. Essential for a long-term success and improvement through such therapy methods, however, is the independent continuous training at home. Only in this way can the preservation and improvement of mobility be achieved.

But not only in the physical, but also in the psychological and social area measures of self-care can and should be taken. Thus, for the affected patients the achievement of an independent way of life is often an important goal. A regular everyday life can help to integrate social interactions. This way, an intact environment can be built up and maintained. Such provides assistance in dealing with the disease and distracting symptoms.

A coordinated interaction of medical treatment, individual physical exercises and maintaining an intact social network can thus contribute significantly to improving the quality of life of the affected patients.

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