Becker – Kiener muscular dystrophy is a genetic disease of the muscles. The disease progresses at a low rate and is gradually accompanied by increasing weakness in the muscles. Basically, the muscular dystrophy type Becker-Kiener is relatively rare. The frequency is about 1:17,000. The disease occurs primarily in male patients. The first manifestation of the disease usually takes place between the ages of 5 and 15.
What is Becker-Kiener muscular dystrophy?
The muscular dystrophy type Becker-Kiener is sometimes referred to with the synonymous term Becker muscular dystrophy. The name of the disease came about in honor of the person who first described the condition. In principle, the muscular dystrophy of the Becker-Kiener type is a hereditary disease that is included in the category of muscular dystrophies. See electronicsmatter for Chalk Teeth Definition.
The disease is inherited X-linked. For this reason, most of the patients are male. However, around 30 percent of all cases of disease are new mutations. Similar to the so-called Duchenne muscular dystrophy, there is a genetic defect on the X chromosome.
The corresponding gene is responsible for coding a structural protein in muscles. Due to the defect, the formation of the protein is impaired. For this reason, the protein is limited in its function and does not fulfill its task adequately. In principle, Becker-Kiener muscular dystrophy is milder than Duchenne muscular dystrophy.
Patients usually develop Becker-Kiener muscular dystrophy between childhood and early adulthood. The pelvic girdle is usually the first to be affected by the disease. In the further course, the muscular dystrophy type Becker-Kiener often extends to the muscles of the shoulder girdle.
In addition, the muscles of the skeleton are converted into connective and fatty tissue. Therefore, the muscles do not appear atrophic even though they have already been affected by the disease. The course of Becker-Kiener muscular dystrophy varies greatly from patient to patient. However, the majority of those affected are able to lead relatively normal lives despite the disease.
If the muscular dystrophy type Becker-Kiener proceeds favourably, the patients have an average long life expectancy. Otherwise it is reduced by up to 40 years. In some cases, Becker-Kiener muscular dystrophy causes complications. This is usually a so-called cardiomyopathy.
Causes
Becker-Kiener muscular dystrophy is inherited. Its cause lies in a genetic defect. The defective gene is on the X chromosome. The disease is passed to children via an X-linked recessive pathway. The gene that is responsible for the substance dystrophin is usually affected. Due to the defect, the proportion of functioning dystrophin within the muscle cells is reduced.
Histological findings indicate degeneration and death of the muscle cells. The nuclei of the cells are located centrally, with the substance perimysium fibrosing. The shrinking muscle tissue is compensated for by connective and fatty tissue.
Symptoms, Ailments & Signs
The muscular dystrophy type Becker-Kiener manifests itself in various symptoms. At the beginning of the disease, the pelvic girdle is usually affected. Muscle cramps occur after physical activity. Myalgias are also possible in this context. In addition, patients suffer from muscle weakness.
If the muscular dystrophy of the Becker-Kiener type progresses for a few years, in some cases it spreads to the shoulder girdle. Since the connective and fatty tissue proliferates, the calf area of the affected person gives the impression of being hypertrophied. Contractures in the joints show up mainly in the ankle.
In addition, heart problems often develop. A so-called cardiomyopathy occurs most frequently here. As a result, cardiac arrhythmias, for example, occur. However, muscle weakness is not directly related to the affected myocardium.
Sometimes scoliosis also 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 & course of disease
If the typical symptoms of Becker-Kiener muscular dystrophy increase, a doctor should be consulted. The first step is to conduct the patient interview or the anamnesis. Here the affected person describes all the symptoms to the doctor in detail. The family history is particularly important because Becker-Kiener muscular dystrophy is a hereditary disease.
After the anamnesis, various clinical examinations are carried out. Blood analyzes show, for example, increased levels of creatine kinase. Characteristic processes can be observed in the biopsy of muscle tissue. A genetic analysis finally provides certainty about the presence of Becker-Kiener muscular dystrophy.
Complications
In the case of muscular dystrophy of the Becker-Kiener type, patients suffer from symptoms and muscle weakness. Therefore, the disease is associated with significant limitations in everyday life and in the life of those affected and thus always leads to a reduced quality of life. Becker-Kiener muscular dystrophy can lead to developmental disorders, especially in children.
The patients suffer from severe cramps and pain in the muscles and are often no longer able to move them. This can lead to restricted movement and other limitations in everyday life. The heart muscle is also affected by this disease, which can lead to sudden cardiac death. Those affected often suffer from tiredness or exhaustion and also from circulatory problems. This disease usually does not heal itself.
Unfortunately, it is not possible to causally treat or limit the muscular dystrophy type Becker-Kiener. 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 symptoms can be completely restricted. The life expectancy of those affected may also be reduced by Becker-Kiener muscular dystrophy.
When should you go to the doctor?
Muscle strength disorders can be triggered by overuse or heavy physical exertion. If after a longer break or a restful night’s sleep there is a significant alleviation of the symptoms or a spontaneous healing, no doctor is needed. The self-healing mechanism of the organism has taken over the regeneration of the complaints, so that there is no need for action. If the discomfort persists for a long time or increases in intensity, a doctor is needed. In case of pain or cramps, a doctor’s visit is recommended. If the usual physical performance drops or if there is an inner weakness, the person concerned needs help. In the case of cardiac arrhythmias, irregular heartbeats, inner restlessness or irritability, a doctor’s visit is advisable.
A general feeling of illness or a decrease in well-being should be discussed with a doctor. If there are restrictions in mobility, irregularities in everyday movements or an inability to operate the joints without symptoms, a doctor’s visit is necessary. A discrepancy in locomotion, a sudden loss of strength and an impairment of the ability to grip are indications of an illness. You should be presented to a doctor as soon as possible so that early treatment can result in rapid relief of the symptoms. Deformations of the joints or bones should be evaluated immediately by a doctor.
Treatment & Therapy
Becker-Kiener muscular dystrophy cannot be cured. For this reason, only the symptoms of the disease are treated. Physiotherapy is important here. If an ankle contracture occurs, surgery may be needed to lengthen the Achilles tendon. The disturbances of the heart rhythm are to be treated with appropriate medicines.
Outlook & Forecast
The course of the Becker-Kiener muscular dystrophy is classified as unfavorable. There is a progressive development of the disease, the cause of which must not be eliminated. The patients suffer from a genetic mutation that cannot be treated for legal reasons. According to current legislation, human genetics must not be modified. Therefore, treating physicians focus on alleviating the existing symptoms and curbing the progression of the disease. Preventive measures are often taken to minimize an increase in health impairments.
If left untreated, an increase in symptoms can be expected. The patient’s entire musculature is impaired due to the disorder. Therefore, there is an increased risk of dying from heart failure. The activity of the heart muscle is of immense importance for the functionality of the heart. Without medical care or regular check-ups, the likelihood of a reduced life expectancy increases.
There is also a worsening of the prospects if the symptoms develop acutely or if there are persistent cardiac arrhythmias. If other diseases are present, this has a significant impact on the functional activity of the organism. Many patients undergo surgical interventions in the course of their lives. These are intended to alleviate existing symptoms, correct cardiac arrhythmia and thus improve the quality of life.
Prevention
Becker-Kiener muscular dystrophy is an inherited disease, so there are no preventive measures.
Aftercare
In the case of muscular dystrophy of the Becker-Kiener type, direct aftercare measures are usually severely limited. For this reason, the person affected should ideally see a doctor early on so that other complications and symptoms do not arise. The sooner a doctor is consulted, the better the further course of the disease.
As a rule, self-healing cannot occur in the muscular dystrophy type Becker-Kiener. The disease can be treated by taking various medications, whereby those affected should ensure that they are taken regularly and that the dosage is correct in order to relieve the symptoms properly and permanently.
In some cases, surgical interventions are necessary to alleviate the symptoms. During such a procedure, it is advisable to spare the body from excessive exertion or from stressful activities. The muscular dystrophy type Becker-Kiener usually 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 therapy methods must be individually tailored to the patient. But even if the damage to the functioning of the muscles is severe, the patient’s quality of life can be improved through individual self-help measures.
Physical exercises play an important part in this. These can be learned under the guidance of medical professionals such as physiotherapists and occupational therapists. However, independent continuous training at home is essential for long-term success and improvement through such therapy methods. This is the only way to maintain and improve mobility.
But not only in the physical, but also in the psychological and social area, self-care measures can and should be taken. Achieving an independent lifestyle is often an important goal for the affected patients. A regulated everyday life can help to integrate social interactions in a targeted manner. In this way, an intact environment can be created and maintained. Such offers support in dealing with the disease and distraction from symptoms.
A coordinated interaction of medical treatment, individual physical exercises and the maintenance of an intact social network can thus contribute significantly to improving the quality of life of the affected patients.
