The Myotonia congenita Becker belongs to the general group of so-called myopathies (muscle diseases). It is characterized by delayed production of resting membrane potential after muscle contraction. That is, the muscle tone decreases only slowly.

What is Myotonia congenita Becker?

The Myotonia congenita Becker is a muscle disease (myopathy), which belongs to the special group of myotonia. Myotonia is characterized by a long-lasting increased muscle tone. So the muscle relaxes slowly after a muscle contraction. Myotonia is a disorder of the sodium ion channel.

The resting potential between potassium ions in the interior of the cell and the sodium ions outside the cell is only gradually restored during an excitation. In terms of muscle tension (muscle tone), this means prolonged maintenance of a specific muscle-induced change. For example, when the patient clenches his fist, it takes a while for the patient to open his fist again. The myotonia are usually genetically determined.

This leads to defects in enzymes, which are responsible for the chloride ion transport in the sodium channel. The Myotonia congenita Becker is also characterized by identical symptoms as the Myotonia congenita Thomsen, since both diseases affect the chloride ion transport. With a prevalence of 1 to 25, 000, the Myotonia congenita Becker is a very rare muscle disease. The prognosis is very good. A limitation of the life expectancy is not observed.

causes

The cause of Myotonia congenita Becker is described as a genetic defect in the CLCN1 gene on chromosome 7. This gene is responsible for the formation of an enzyme that regulates the transport of chloride ions through the sodium channel. Due to this enzyme defect, the chloride ions can no longer be transported so well, whereby the resting potential of the cell membrane is slow to adjust.

The resting membrane potential is an actively generated cell potential that forms between the interior of the cell and the intercellular space. Through the so-called sodium-potassium ion pump potassium ions are constantly pumped into the cell and sodium ions from the cell. Thus, the potassium ion concentration is increased within the cell and decreased outside. Conversely, this of course also applies to the sodium ions.

The resulting potential is actively maintained in order to forward electrical impulses via potential changes. When the potential is reversed by this pulse, the initial state is usually restored quickly. However, this process is delayed in Myotonia congenita Becker due to the disturbed Chloridionenentransportes.

The same applies to the myotonia congenita Thomsen. Both diseases are caused by defects of the same gene. However, there are different mutations here. While Myotonia congenita Thomsen is inherited autosomal dominant, Myotonia congenita Becker follows an autosomal recessive inheritance.

Symptoms, complaints & signs

The main symptom of Myotonia congenita Becker is a long-lasting muscle tension (muscle tone). The muscle does not relax immediately, as is usual for a normal muscle reaction, but retards it. Posture triggered by voluntary muscle contraction is retained longer. Already mentioned was the delayed opening of the fist at the patient's turgor.

Furthermore, after prolonged physical rest getting up and walking initially only possible with difficulty. After a so-called warm-up phase, the movements normalize again. Muscle stiffness is especially pronounced in cold outdoor temperatures or when staying in cold water. Tapping the skeletal muscles causes a tonic contraction, which is also called percussion myotonia.

The patients fall more often and seem awkward when gripping objects. However, muscle development is normal. Even athletic physique is possible because myotonia is not associated with muscle weakness. However, it can come with prolonged physical rest to a muscle weakness.

Diagnosis & disease course

In the diagnosis of Myotonia congenita Becker, a medical history is first performed. Physical examinations, such as the tapping of skeletal muscle to produce a percussion myotonia and an electromyography follow. Electromyography shows discharge series that suggest myotonia. The differential diagnosis for Myotonia congenita Thomsen now takes place.

Both diseases are very difficult to distinguish. When taking an anamnesis, the inheritance of myotonia can be investigated. Should an autosomal recessive inheritance suggest, a Myotonia congenita Becker can be concluded. An accurate digestion, however, only brings a genetic examination.

complications

Due to the Myotonia congenita Becker the patient experiences considerable limitations and complications, which occur especially in everyday life. In most cases, the muscles can not relax immediately, so certain activities can not be performed by the patient. Likewise, getting up may become a difficulty if the person has previously rested and the muscles were not active.

The Myotonia congenita Becker significantly reduces the quality of life. Likewise sufferers suffer from a strong stiffness of the muscles, which also has a negative effect on the posture of the patient. Not infrequently, those affected seem awkward and can not grab or lift objects properly.

This leads to severe restrictions in everyday life and in children to an extremely developmental delay. Likewise, a muscle weakness can occur, so that the resilience of the affected drops significantly. Direct treatment of Myotonia congenita Becker is not possible.

Those affected, however, depend on various therapies that can significantly relieve the symptoms. As a rule, no complications occur. In some cases, however, the heart muscle is also affected, so patients may need medication to prevent heart disease.

When should you go to the doctor?

If the muscle tension can not be resolved despite a deliberately initiated relaxation, a doctor is needed. A delayed reaction of the muscles is considered unusual and should be presented to a doctor. A stiff posture, problems with the gripping function as well as disturbances of the general movements are to be discussed with a doctor. If there are more accidents or accidents due to the complaints, a medical clarification of the cause is needed. A treatment plan must be prepared so that a relief of the complaints can be initiated.

With a general severity after a rest period, limitations of locomotion after a break or gait uncertainties the person concerned needs help and support. To determine the present disorders, a doctor is needed. A decrease in physical performance, difficulties in fulfilling the day-to-day responsibilities, and inability to perform habitual physical activity must be discussed with a physician. There is a condition that needs to be treated.

If the symptoms persist unabated for several days or there is an increase in the disturbances, a doctor should be consulted. Does the person affected awkwardly in everyday life, he shows behavioral problems or it comes to emotional problems, the consultation with a doctor should take place. Physical impairment increases the risk of mental sequelae.

Therapy & Treatment

Patients with Myotonia congenita Becker require no treatment in most cases. With some training, they can learn to perfect their movements to compensate for the symptoms. In severe cases, however, sometimes a drug treatment is necessary. It is given mexiletine, which is known as an antiarrhythmic agent for cardiac arrhythmias.

This drug blocks the sodium channel. Acetazolamide, carbamazepine or diazepam can also be used. However, drug treatment should be short-lived as it may have several side effects. Especially if a muscle stiffening has occurred as a result of a cold influence, but the drug treatment may be useful.

Outlook & Forecast

The Myotonia congenita Becker brings a differentiated prognosis with itself. A cure is excluded because it is a hereditary disease. Doctors can only alleviate the symptoms. Often, no lengthy treatment is necessary because the symptoms are minimal. In such a course, the patients receive information on how to compensate for the signs in everyday life.

Training sessions are usually led by physiotherapists. These measures are sufficient to prevent quality of life limitations. In case of a severe course, a medication is indicated. The available drugs cause a temporary relief of the disease. However, side effects sometimes occur during use. In everyday life very often appear stiff muscles. Awkwardness and an unfavorable posture are also characteristic. The resilience in the professional and private life is significantly reduced. The Myotonia congenita Becker leads to no shortening of the lifetime.

According to statistical surveys, the disease affects one patient in 25, 000 people. Many sufferers receive the Myotonia congenita Becker via their parents by inheritance. The complaint status usually remains at a similar level. Changes are very rare and occur slowly.

prevention

The Myotonia congenita Becker is a genetic disease, so there is no possibility of prophylaxis. However, the onset of symptoms can be prevented. It is important to avoid cold. This also applies to bathing in cold water. Because it stiffens the muscles very quickly.

Furthermore, continuous movement is necessary to counteract muscle stiffening. Movement training also makes it possible to compensate for the symptoms of Myotonia congenita Becker.

aftercare

In the case of Myotonia congenita Becker, in most cases, only a few and even limited measures of aftercare are available to those affected. Patients should therefore seek medical attention at an early stage to prevent the onset of other complications or discomforts. It can not come to an independent healing, so that the patients are dependent on the help of a doctor.

For aftercare often includes physiotherapy or physiotherapy to relieve the symptoms permanently and properly. Many of the exercises from such home-based therapies can be repeated to speed healing. Often the help and care of the own family is very important at the Myotonia congenita Becker.

When taking medications is to pay attention to a correct dosage and also on a regular intake to counteract the symptoms. Patients should always consult a doctor first in case of ambiguity or questions. The Myotonia congenita Becker usually does not reduce the life expectancy of the patient. Frequently, contact with other stakeholders is very useful, as it can lead to an exchange of information.

You can do that yourself

The Myotonia congenita Becker can be treated by patients through some self-help measures and various means from the household and nature itself.

Various exercises from the physiotherapy facilitate getting up and walking in the morning. By repeating the movement, it is possible to achieve the so-called "warm-up phenomenon" in which the movements can be carried out with increasing ease and with less pain. In cold outdoor temperatures, the patient should wear warm clothing, as the muscle stiffness under these conditions is particularly pronounced. If medications have been prescribed for the condition, the use of alternative remedies should be discussed in advance with the doctor. The physician can give tips for a customized diet, which can reduce the typical muscle problems often.

Since Myotonia congenita Becker is at an increased risk of accident, the patient should not be left alone. In case of a fall, it is necessary to call the ambulance and to provide the affected person with first aid. If there are repeated accidents, adjustments must be made in the household, such as support handles or handrails. In the advanced stage, the patient relies on a wheelchair.

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