Under the name Myotonia congenita Thomsen the physician describes the disorder of the muscle functions - a myopathy. Myotonia congenita Thomsen is a very rare disease (1 to 400, 000), which is inherited as an autosomal dominant. Within the framework of the Myotonia congenita Thomsen the so-called myotonia occurs. Muscle stiffness is characteristic of Myotonia congenita Thomsen.
The formation of Myotonia congenita Thomsen is based on a gene defect on chromosome 7, which encodes the chloride channels of the muscle fiber membrane. Due to the reduced chloride permeability, an easier depolarization of the muscle fibers results.
The reason why such a mutation or change of the gene occurs is not yet known. This further complicates treatment; In Myotonia congenita Thomsen, care is taken primarily to alleviate the symptoms. A cause treatment is not given according to the current state of knowledge.
Affected complain mainly about problems with the muscles. The first symptoms occur in childhood. However, the symptoms do not develop until adulthood, so that in many cases Myotonia congenita Thomsen can only be diagnosed after the age of 18 years. The person complains about special movement restrictions, so that he has problems walking or certain movements.
Characteristic is also the muscle stiffness. The so-called myotonia can sometimes last several minutes. A classic example is the handle to the door handle. The affected person opens the door, but then can not release the latch for several minutes, because the muscles remain tense. Self-restraint or counteraction is not possible. Of course, the muscle suffers from slight cramps due to the cramping. It can take several minutes, but even hours or days, for the muscle to recover completely.
The physician begins, as part of the diagnosis, to study the history of the patient. Due to the dominant inheritance of Myotonia congenita Thomsen, symptoms can be considered early on. For this reason, it is advisable that relatives who are affected by Myotonia congenita Thomsen be there as part of the diagnosis, so that even those people can answer any questions about the clinical picture.
Especially with genetic diseases and hereditary diseases, it is important that the family members are always involved, who have sometimes passed on the genetic defect. However, if there is a spontaneous mutation, which means that there is no family background, the diagnosis turns out to be extremely difficult.
The problem is further that Myotonia congenita Thomsen can not be easily diagnosed. Finally, there are no particular abnormalities; neither organs nor the chloride channel are affected by the defect. However, experienced physicians recognize that even a gentle tapping on a muscle is enough for the person to immediately contract and develop a myotonic reaction. While imaging or ultrasound may not provide the desired information, electromyography can help diagnose.
By means of electromyography it is possible that an ion channel disturbance becomes visible. For the absolute certainty that it is actually Myotonia congenita Thomsen, genetic tests are carried out. By means of such tests, the mutation can be detected. It is important that Myotonia congenita Becker can be excluded.
The prognosis for those affected by Myotonia congenita Thomsen is good. In almost all cases there is no restriction of the quality of life of the person concerned. However, it only becomes problematic in the context of accidents at work when muscle stiffness occurs during active activities; due to those situations, the accident frequency is increased.
Due to the Myotonia congenita Thomsen sufferers suffer from significant restrictions and impairments in quality of life. It comes to strong disturbances of movement and coordination, so that ordinary activities of everyday life usually can not be carried out easily. Above all, walking and standing is usually no longer possible for the patient, so that the patients are dependent on the help of other people in their everyday lives.
The muscles are stiff in the Myotonia congenita Thomsen and can not be moved quickly. It can also lead to uncontrolled movements of the patient. The muscles can also cramp, which can lead to very severe pain. It can also take a few days for the muscles to recover from the strain. A self-healing of Myotonia congenita Thomsen does not occur.
A causal treatment of this disease is not possible. The symptoms can be reduced and reduced by physiotherapy, although it does not lead to a completely positive course of the disease. In many cases, those affected must avoid high levels of stress and stress, so it does not come to the discomfort of the muscles.
If children and adolescents repeatedly complain about muscular disorders, they should be monitored. Frequently, the natural growth process causes confusion and the first signs of myotonia congenita thomsen are not sufficiently recognized. If the children complain more frequently about complaints of the muscles or bones compared to their peers and experience them more intensively, the observations should be discussed with a doctor.
Low muscle strength, tensing of the muscles, even though they have been loosened up, as well as restrictions on the possibilities of movement are to be examined and treated. Disturbances of gripping function, gait uncertainties, the formation of bruises or bruising without any external influence are signs of an existing illness.
If existing complaints persist over a longer period of time or increase in size and intensity, a doctor's visit is recommended. If the locomotion can not be done on its own, Myotonia congenita Thomsen is already in an advanced stage and must be examined immediately by a doctor.
If behavioral problems occur, the child becomes very tearful, or if participation in social life is denied, these are indications of an existing irregularity. If school sports lessons are no longer available or there are restrictions on recreational activities, a doctor is needed.
Due to the fact that Myotonia congenita Thomsen has a genetic background or the cause of the mutation is not clear, only symptoms can be alleviated within the therapy. A cause treatment is completely eliminated.
Due to the fact that myotonia is not a life-threatening disease and also has no corresponding symptoms, any ordinary physiotherapy can help if the patient complains of increasing muscle stiffness. It is important that physiotherapeutic measures are regularly performed. This allows the patient to train or relax his muscles and, subsequently, to combat muscle stiffness.
It is advisable that the patient is informed about possible positive factors that can cause myotonia. So cold, fatigue and stress should be avoided. Those factors can trigger an increased impact. However, warmth can help relieve symptoms that have already appeared. In many cases, sufferers also receive medication, whereby the active ingredient mainly supports the ion channels of the patient.
The physicians mainly prescribe the active ingredients phenytoin or mexiletine. If the person complains about only very weak symptoms, the medication can also be omitted; in the case of very minor ailments, in the end the physiotherapy is sufficient. There are no surgical or other treatment options that can alleviate the symptoms or even fight the disease.
The prospects for the Myotonia congenita Thomsen are favorable. It rarely occurs. Statistically, one out of 400, 000 people is affected. Remarkable are familial accumulations. This is because the Myotonia congenita Thomsen is passed on through the genes. The causes can not be solved at present. It remains to be seen whether scientific research will develop suitable therapeutic approaches in the future. However, doctors can relieve the symptoms, so that a quality of life is maintained. The lifespan is not affected by the muscle disease.
Many patients learn in training sessions how they spend their everyday lives with the Myotonia congenita Thomsen. This results in many occupations no significant disadvantages. Even the private life can be mastered without outside help. Usually even no drug treatment is required. Mexiletine is administered rarely and in severe cases.
The intensity of the complaints is usually greater in men than in females. External factors such as temperature and time of day can cause Myotonia congenita Thomsen as well as physical and psychological conditions that are difficult to associate with the condition.
Due to the fact that no cause is known for which reason there is a myotonia congenita thomsen or it is a hereditary disease, no preventive measures are possible or known.
In most cases, the measures and the options for follow-up in Myotonia congenita Thomsen are clearly limited. In the foreground of this disease is therefore an early detection and treatment, so there may be no further complications or other restrictions more. The person concerned should therefore seek medical attention in good time and initiate treatment for the disease, since no self-healing can occur.
In most cases, taking Myotonia congenita Thomsen requires the use of various medications to relieve the symptoms permanently and properly. Affected persons should pay attention to the regular intake and also the prescribed dosage in order to limit the symptoms. In many cases, physiotherapy and physical therapy are also very important, and the patient can also repeat and perform many of the exercises in these home therapies.
The help and care of one's own family has a very positive effect on the further course of the disease. This can also be used to prevent depression and other mental upsets. The disease itself does not usually reduce the life expectancy of the person affected.
The Myotonia congenita Thomsen is a hereditary disease that is primarily to be treated by a doctor. Accompanying the medical treatment, the patients may begin various measures to accompany the therapy.
For example, activities such as exercising and changing the daily diet are effective. It is also important to have a strict body hygiene to relieve the typically occurring atrophies. Furthermore, no unhealthy foods and drinks such as fast food or alcohol may be eaten and drunk. The diet should be prepared in consultation with a nutritionist and the family doctor to achieve the highest possible effectiveness. In addition, solar radiation must be avoided. Especially in summer, the eyes must be protected to prevent further damage.
The disabilities of the musculoskeletal system can be alleviated by exercises from yoga and physiotherapy, in addition to physiotherapy prescribed by physicians. Patients should also organize a disability-friendly facility or acquire early walkers and Co. to compensate for falls and the resulting physical consequences. Which measures make sense in detail can be answered by the responsible doctor.Tags: