Myotonia congenita Thomsen is a so-called hereditary disease; this is a hyperexcitability of the skeletal muscles. Myotonia congenita Thomsen is one of the hereditary diseases. The prognosis and the course of the disease are quite positive; severe restrictions that significantly impair the quality of life are not to be expected.
What is myotonia congenita Thomsen?
Under the name Myotonia congenita Thomsen, the physician describes the disruption of muscle functions – a myopathy.
Myotonia congenita Thomsen is a very rare disease (1 in 400,000) that is inherited in an autosomal dominant manner. See sciencedict for Introduction to Keshan Disease.
The so-called myotonia occurs in the context of myotonia congenita Thomsen. Muscle stiffness is characteristic of myotonia congenita Thomsen.
Causes
The formation of Myotonia congenita Thomsen is based on a genetic defect on chromosome 7, which encodes the chloride channels of the muscle fiber membrane. Due to the reduced chloride permeability, there is an easier depolarization of the muscle fibers.
It is not yet known why such a mutation or change in the gene occurs. As a result, this also makes treatment more difficult; in the case of myotonia congenita Thomsen, attention is mainly paid to alleviating the symptoms. According to the current state of knowledge, there is no treatment of the cause.
Symptoms, Ailments & Signs
Affected people mainly complain about problems with the muscles. The first symptoms already appear in childhood. However, the symptoms do not become apparent until adulthood, so that in many cases myotonia congenita Thomsen can only be diagnosed after the age of 18. The person concerned complains about special movement restrictions, so that he has problems walking or certain movements.
Muscle stiffness is also characteristic. The so-called myotonia can sometimes last for several minutes. A classic example is reaching for the door handle. The person concerned opens the door but cannot let go of the handle for several minutes because the muscles remain tense. Self-control or counteracting is not possible. Of course, the muscle suffers minor injuries due to the cramping. It can take several minutes, but it can also take hours or days for the muscle to fully recover.
Diagnosis & course of disease
As part of the diagnosis, the doctor begins to study the patient’s history. Due to the dominant inheritance of Myotonia congenita Thomsen, symptoms can be observed at an early stage. For this reason, it is advisable that relatives who are affected by Myotonia congenita Thomsen are also present when the diagnosis is made, so that they can also answer any questions about the clinical picture.
In the case of genetic disorders and hereditary diseases in particular, it is important to always include family members who may have passed on the genetic defect. However, if a spontaneous mutation is present, meaning that there is no family background, the diagnosis proves to be extremely difficult.
There is also the problem that Thomsen’s myotonia congenita cannot be easily diagnosed. Ultimately, there are no particular abnormalities; neither organs nor the chloride channel are affected by the defect. However, experienced physicians recognize that tapping a muscle gently is enough to immediately tense it and create a myotonic response. While imaging methods or ultrasound examinations do not bring the desired information, electromyography can help with the diagnosis.
Using electromyography, it is possible for an ion channel disorder to become visible. Genetic tests are carried out to be absolutely sure that it really is Myotonia congenita Thomsen. The mutation can be detected by means of such tests. It is important that Myotonia congenita Becker can be ruled out.
The prognosis for those affected who suffer from Myotonia congenita Thomsen is good. In almost all cases, there is no impairment of the patient’s quality of life. However, it only becomes problematic in the context of any accidents at work, if the muscle stiffness sets in, for example during active activities; due to those situations, the accident frequency is increased.
Complications
As a result of Myotonia congenita Thomsen, those affected suffer from significant limitations and impairments in their quality of life. There are severe disturbances in movement and coordination, so that usual everyday activities can usually no longer be carried out easily. Above all, the patient can no longer walk and stand easily, so that the patients are dependent on the help of other people in their everyday life.
In Thomsen’s myotonia congenita, the muscles are stiff and cannot be moved quickly. Uncontrolled movements of the patient can also occur. The muscles can also spasm, 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 the myotonia congenita Thomsen does not occur.
A causal treatment of this disease is not possible. The symptoms can be limited and reduced by physiotherapy, although the course of the disease is not completely positive. In many cases, those affected must also avoid high loads and stress so that the muscles do not suffer.
When should you go to the doctor?
If children and adolescents repeatedly complain about disorders of the muscles, the symptoms should be observed. The natural growth process often leads to confusion and the first signs of myotonia congenita Thomsen are not sufficiently recognized. If the children complain more often about muscle or bone problems than their peers and experience them more intensely, the observations should be discussed with a doctor.
Low muscle strength, tense muscles even though they have been relaxed, and restricted mobility should be examined and treated. Disorders of the gripping function, unsteady gait, the formation of bruises or bruises without external influence are signs of an existing disease.
If existing symptoms persist for a longer period of time or if they increase in scope and intensity, a doctor’s visit is recommended. If you can no longer move on your own, the myotonia congenita Thomsen is already at an advanced stage and must be examined by a doctor immediately.
If behavioral problems occur, if the child starts crying a lot or if participation in social life is denied, these are indications of an existing irregularity. If you can no longer take part in school sports lessons or if there are restrictions on leisure activities, a doctor is required.
Treatment & Therapy
Due to the fact that myotonia congenita Thomsen has a genetic background or the reason why the mutation occurs has not been clarified, the therapy can only alleviate symptoms. There is no need to treat the cause at all.
Due to the fact that myotonia is not a life-threatening disease and has no associated symptoms, if the patient complains of increasing muscle stiffness, ordinary physical therapy may help. It is important that physiotherapeutic measures are taken regularly. In this way, the patient can train or relax his muscles and subsequently take action against muscle stiffness.
It is advisable that the patient is informed about possible positive factors that can trigger myotonia. Cold, tiredness and stress should be avoided. Those factors can trigger an enhanced effect. However, heat can help relieve symptoms that have already occurred. In many cases, those affected also receive medication, with the active ingredient primarily supporting the patient’s ion channels.
Doctors mainly prescribe the active ingredients phenytoin or mexiletine. However, if the person concerned complains of only very weak symptoms, the medication can also be omitted; in the case of very minor complaints, physiotherapy is sufficient in the end. There are no surgical or other treatment options that can alleviate the symptoms or even combat the disease.
Outlook & Forecast
The prospects for myotonia congenita Thomsen are good. She rarely appears. Statistically, one in 400,000 people is affected. Familial clusters are conspicuous. This is because the myotonia congenita Thomsen is passed on via the genes. The causes cannot be eliminated at present. It remains to be seen whether scientific research will develop suitable therapeutic approaches in the future. However, doctors can alleviate the symptoms so that the quality of life is maintained. The life expectancy is not affected by the muscle disease.
Many patients learn in training sessions how to spend their everyday life with myotonia congenita Thomsen. This does not result in any significant disadvantages in many professions. Private life can also be mastered without outside help. In most cases, no drug treatment is even required. Mexiletine, among other things, is administered only rarely and in severe cases.
The intensity of the symptoms is usually greater in men than in women. 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 disease.
Prevention
Due to the fact that no cause is known, for what reason a myotonia congenita Thomsen exists or it is a hereditary disease, no preventive measures are possible or known.
Aftercare
In most cases, the measures and the options for aftercare are clearly limited in the case of myotonia congenita Thomsen. The focus of this disease is therefore early detection and treatment, so that no further complications or other limitations can occur. The affected person should therefore consult a doctor in good time and initiate treatment of the disease, as self-healing cannot occur.
In most cases, Thomsen’s myotonia congenita requires the use of various medications in order to relieve the symptoms properly and permanently. Those affected should take it regularly and observe the prescribed dosage in order to limit the symptoms. In many cases, measures of physiotherapy and physiotherapy are also very important, whereby the patient can also repeat and carry out many of the exercises from these therapies at home.
The help and care provided by one’s own family also has a very positive effect on the further course of the disease. This can also prevent depression and other mental disorders. The disease itself usually does not reduce the life expectancy of the person affected.
You can do that yourself
Myotonia congenita Thomsen is an inherited disease that primarily requires medical treatment. In addition to the medical treatment, the patient can take various measures to accompany the therapy.
For example, activities such as exercising and changing your daily diet are effective. Strict personal hygiene is also important in order to alleviate the typically occurring atrophies. Furthermore, no unhealthy food and drinks such as fast food or alcohol may be consumed or drunk. The diet should be worked out in consultation with a nutritionist and the family doctor in order to achieve the highest possible effectiveness. In addition, sun exposure must be avoided. Especially in summer, the eyes must be protected to avoid further damage.
The disabilities of the musculoskeletal system can be alleviated with exercises from yoga and physiotherapy, in addition to physiotherapy prescribed by a doctor. Sick people should also organize a facility suitable for the disabled or purchase walking aids and the like at an early stage in order to compensate for falls and the resulting physical consequences. The responsible doctor can answer which measures are useful in detail.
