Becker-Kiener Type Muscular Dystrophy: Causes, Symptoms & Treatment

Becker-Kiener type muscular dystrophy is a genetic disease of the muscles. The disease progresses at a slow rate and is gradually associated with increasing weakness of the muscles. Basically, muscular dystrophy type Becker-Kiener occurs relatively rarely. The incidence is about 1:17,000, and the disease occurs primarily in male patients. The initial manifestation of the disease usually occurs between the ages of 5 and 15.

What is muscular dystrophy Becker-Kiener type?

Becker-Kiener type muscular dystrophy is sometimes referred to by the synonymous term Becker muscular dystrophy. The name of the disease originated in honor of the person who first described the condition. In principle, Becker-Kiener type muscular dystrophy is a hereditary disease that belongs to the category of muscular dystrophies. The disease is inherited X-linked. For this reason, most patients are male. However, approximately 30 percent of all cases of the disease are new mutations. Similar to the so-called muscular dystrophy Duchenne, a gene defect is present on the X chromosome. The corresponding gene is responsible for the coding of a structural protein 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 insufficiently. In principle, Becker-Kiener muscular dystrophy is milder than Duchenne muscular dystrophy. Patients usually develop Becker-Kiener type muscular dystrophy between childhood and early adulthood. Usually, the pelvic girdle is affected first by the disease. As the disease progresses, Becker-Kiener muscular dystrophy often extends to the muscles of the shoulder girdle. In addition, the muscles of the skeleton transform into connective and fatty tissue. Therefore, the muscles do not make an atrophic impression, although they have already been affected by the disease. Becker-Kiener type muscular dystrophy varies greatly from patient to patient. However, the majority of affected individuals are able to live relatively normal lives despite the disease. If the course of Becker-Kiener type muscular dystrophy is favorable, patients have an average life expectancy. Otherwise, it is reduced by up to 40 years. In some cases, Becker-Kiener type muscular dystrophy causes complications. These are usually a so-called cardiomyopathy.

Causes

Becker-Kiener type muscular dystrophy is inherited. Its cause is due to a genetic defect. The defective gene is located on the X chromosome. The disease is passed on to children in an X-linked recessive manner. As a rule, the gene responsible for the substance dystrophin is affected. Due to the defect, the amount of functioning dystrophin within the cells of the musculature is reduced. Histological findings indicate degeneration and death of the muscle cells. The nuclei of the cells are localized centrally, with fibrosis of the perimysium. Compensation of the shrinking tissue of the musculature by connective and adipose tissue occurs.

Symptoms, complaints and signs

Becker-Kiener type muscular dystrophy manifests itself in various complaints. At the beginning of the disease, the pelvic girdle is usually affected. Cramps occur in the muscles following physical activity. Myalgias are also possible in this context. In addition, patients suffer from weakness of the muscles. If Becker-Kiener type muscular dystrophy progresses for a few years, in some cases it spreads to the shoulder girdle. As connective and adipose tissue proliferates, the calf area of affected individuals makes a hypertrophic impression. Contractures at the joints show up if, then mainly at the ankle joint. In addition, complaints of the heart often develop. Most frequently, a so-called cardiomyopathy occurs here. As a result, disturbances of the heart rhythm occur, for example. However, the muscle weakness is not directly related to the impaired 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, Becker-Kiener type muscular dystrophy is characterized by a progressive course.

Diagnosis and course of the disease

If typical symptoms of Becker-Kiener type muscular dystrophy increase, a physician should be consulted. The first step is to conduct the patient interview or anamnesis. Here, the affected person describes all complaints in detail to the doctor. The family history is particularly important, because Becker-Kiener muscular dystrophy is a hereditary disease. After the anamnesis, various clinical examinations are performed. Blood analyses, for example, show increased levels of creatine kinase. Biopsies of muscle tissue show characteristic processes. Finally, genetic analysis brings certainty about the presence of Becker-Kiener type muscular dystrophy.

Complications

In Becker-Kiener type muscular dystrophy, patients suffer from discomfort and weakness of the muscles. Therefore, the disease is associated with significant limitations in everyday life and in the life of the affected person and thus always leads to a reduced quality of life. Especially in children, Becker-Kiener type muscular dystrophy can therefore lead to developmental disorders. Patients suffer from severe cramps and pain in the muscles and are often unable to move them. This can lead to restricted movement and further limitations in everyday life. The heart muscle is also affected by this disease, which can lead to sudden cardiac death. Those affected not infrequently suffer from fatigue or exhaustion and also from circulatory problems. As a rule, this disease does not heal itself. Unfortunately, it is not possible to treat or limit 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 symptoms can be completely limited. Possibly, the life expectancy of the affected person is also reduced by Becker-Kiener type muscular dystrophy.

When should you see a doctor?

A muscle strength disorder can be triggered due to overuse or heavy physical exertion. If there is significant relief of the symptoms or spontaneous healing after a longer break or a restful night’s sleep, no doctor is needed. The self-healing mechanism of the organism has taken over the regeneration of the discomfort, so that no action is required. If the discomfort continues for a longer period of time or increases in intensity, a doctor is needed. In case of pain or cramps, a visit to the doctor is recommended. If the usual physical performance decreases or internal weakness occurs, the affected person needs help. In case of disturbances of the heart rhythm, irregularities of the heartbeat, an inner restlessness or irritability, a visit to the doctor is recommended. 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 discomfort, a visit to the doctor is necessary. An inconsistency in locomotion, a sudden loss of strength as well as an impairment of the ability to grasp are indications of a disease. They should be presented to a doctor as soon as possible so that early treatment can provide rapid relief from the symptoms. Deformities of the joints or bones should be immediately evaluated by a physician.

Treatment and therapy

A cure for Becker-Kiener type muscular dystrophy is not possible. For this reason, only the symptoms of the disease are treated. What is significant here is physiotherapy. If ankle contracture occurs, the Achilles tendon may be lengthened in a surgical procedure. Cardiac rhythm disorders should be treated with appropriate medications.

Outlook and prognosis

The disease course of Becker-Kiener type muscular dystrophy is considered unfavorable. There is a progressive development of the disease, the cause of which may not be corrected. The patients suffer from a genetic mutation, which for legal reasons cannot be treated. Human genetics may not be altered according to the current state of legislation.Therefore, treating physicians focus on alleviating existing symptoms as well as halting the progression of the disease. Preventive measures are often taken to minimize an increase in adverse health effects. 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 functioning of the heart. Without medical care or regular checkups, the likelihood of a decreased life expectancy increases. The outlook is also worsened if the symptoms develop acutely and if there are persistent disturbances in the heart rhythm. 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 complaints, remedy disturbances of the heart rhythm and thus bring about an improvement in the quality of life.

Prevention

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

Aftercare

In Becker-Kiener type muscular dystrophy, direct aftercare measures are usually severely limited. For this reason, the affected person ideally needs to see a doctor early to avoid other complications and symptoms. The earlier a doctor is consulted, the better the further course of the disease usually is. Self-cure is usually not possible in Becker-Kiener muscular dystrophy. The disease can be treated by taking various medications, whereby those affected should pay attention to taking them regularly and also to the correct dosage in order to alleviate the symptoms properly and permanently. In some cases, surgical interventions are also necessary to alleviate the symptoms. In the case of such an intervention, it is recommended to spare the body from excessive efforts or from stressful activities. In this regard, Becker-Kiener type muscular dystrophy does not usually reduce the life expectancy of the affected person.

What you can do yourself

Since the course and symptoms of Becker-Kiener type muscular dystrophy vary greatly, both medical and alternative therapy methods must be tailored to the individual patient. However, even if the damage to the functioning of the musculature is severe, individual self-help measures can improve the patient’s quality of life. Physical exercises play an important role in this. These can be learned under the guidance of medical professionals such as physiotherapists and occupational therapists. However, continuous independent 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. However, self-care measures can and should be taken not only in the physical, but also in the psychological and social areas. For example, achieving an independent lifestyle is often an important goal for affected patients. A regulated daily routine can help to integrate social interactions in a targeted manner. In this way, an intact environment can be established and maintained. Such an environment offers support in dealing with the disease and distraction from symptoms. A coordinated interplay 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 affected patients.