The Pull -Oppenheim Syndrome is a dystonia that appears generalized. Thus, the disease is accompanied by disturbances in mobility. The hyperkinetic movement is primarily affected. Pull-Oppenheim syndrome occurs with a very low frequency. The disease is referred to by the synonymous terms Schwalbe-Ziehen-Oppenheim syndrome or dystonia musculorum deformans.
What is Pull-Oppenheim Syndrome?
In principle, the Zügen-Oppenheim syndrome is a rare disease. A so-called torsional dystonia develops as part of the disease . Pull-Oppenheim syndrome usually begins in childhood or during puberty. For meanings of lyell syndrome, please visit polyhobbies.com.
It is basically an idiopathic and primary disease. This means that no underlying diseases are present or known. The disease was first described by Oppenheim in 1911. The common name of the disease is derived from him.
The frequency of the Zügen-Oppenheim syndrome is between 1:100,000 and 1:300,000 in Europe. Due to a so-called founder mutation several hundred years ago, the Zügen-Oppenheim syndrome occurs more frequently in certain ethnic groups than in others, for example among Ashkenazi Jews.
Causes
The Zug-Oppenheim syndrome is a hereditary disease that is passed on to the children in the majority of cases in an autosomal dominant way. X-linked or autosomal recessive inheritance is much less common. The cause of the development of the Zügen-Oppenheim syndrome is found in a special genetic mutation.
The penetrance is between 30 and 40 percent. The affected gene is responsible for coding a specific protein. This protein is torsin A, which is found in all neurons of the central nervous system. Torsin A primarily functions as a so-called chaperone.
These are special proteins that are responsible for the allocation of newly formed proteins. Torsin A is also associated with the transport of the neurological messenger substance dopamine.
In the context of dystonia, including the Pull-Oppenheim syndrome, there are disorders of the involuntary and, to a certain extent, also voluntary motor functions. The basal ganglia are particularly affected by the damage. The processes related to dopamine are also disturbed. The disturbances in movement are primarily of a hyperkinetic nature.
Symptoms, Ailments & Signs
When a person has Pulling Oppenheim Syndrome, different symptoms appear. Disorders of the motor function or hyperkinesis are typical. The muscles contract involuntarily and often in the same way over and over again. Different parts of the body are affected by these contractions.
In addition, muscle contractions in different parts of the body are possible at the same time. The contractions are usually repeated. As a result, the affected persons move conspicuously. Sometimes there is twisting of the body or unusual postures. In many cases, the Pull-Oppenheim Syndrome begins in childhood.
The first complaints often appear in the limbs. Over the course of about five years, the symptoms of Zug-Oppenheim syndrome become generalized in most patients. The motor system becomes more active (medical term “action dystonia”). This is particularly evident in tense situations where the individuals involved are subjected to physical or psychological pressure.
In the context of the Pull-Oppenheim syndrome, for example, a flexion of the hand, twisting of the spine and a dromedary gait are possible. Patients suffering from the Zügen-Oppenheim syndrome are not impaired in terms of their cognitive abilities.
Diagnosis & course of disease
If there are typical signs of the Zügen-Oppenheim syndrome, a suitable specialist should be consulted immediately, who will help the patient to make the diagnosis. The first element on the way is usually the anamnesis. The person concerned describes to the doctor all their complaints as well as characteristic features of their way of life.
In view of the fact that the Zügen-Oppenheim syndrome is a hereditary disease, the family history is of great importance. After the anamnesis has been carried out, clinical examinations are used. The doctor observes the movements and any contractions of the muscles.
In addition, magnetic resonance imaging and positron emission tomography are often performed. This shows typical deviations in the use of glucose. An EEG examination is also important for the diagnosis of the Zügen-Oppenheim syndrome.
Blood analyzes and urine samples are used as standard. A thorough differential diagnosis must also be carried out. In particular, various diseases of the metabolism must be observed, for example Wilson’s disease and other types of dystonia.
Complications
In most cases, the Pull-Oppenheim Syndrome has a negative effect on the affected person’s motor skills. Most patients suffer from motor and cognitive disorders and thus from significant limitations in everyday life. The patient’s quality of life is also significantly restricted and reduced by the syndrome, so that involuntary contact with different regions of the body occurs again and again.
As a rule, the contractions repeat themselves, so that the affected person can no longer go about his or her everyday life and work as usual. In many cases, the patients are dependent on the help of other people in their everyday life and can no longer easily cope with everyday life on their own. Self-healing does not occur in this disease.
Various psychological complaints can also occur as a result of the Zügen-Oppenheim syndrome, and the parents or relatives of the patient can also suffer from depression. The treatment of the Zügen-Oppenheim syndrome is usually carried out with the help of medication. These can be associated with various side effects.
Various therapies are also necessary for this syndrome so that the disease can be completely curtailed. As a rule, the patient’s life expectancy is not negatively reduced or restricted by the disease.
When should you go to the doctor?
The rarely occurring Zügen-Oppenheim syndrome is a generalized disease. This is also known as dystonia musculorum deformans. The problem is that the cause of the disease is not yet known. However, the condition is hereditary.
The first symptoms of dystonia musculorum deformans appear in childhood or in adolescents. A doctor should be consulted in the case of unclear motor disorders or conspicuous hyperkinetic movement patterns with always the same muscle contractions. It could be Pull-Oppenheim Syndrome.
Increased muscle contractions appear about five years after the first symptoms. These increase especially under strain or stress. However, the cognitive abilities are often not impaired by the Zügen-Oppenheim syndrome. Unfortunately, nowadays only the symptoms of the Zug-Oppenheim syndrome can be alleviated somewhat.
The cause of the uncontrolled movement patterns is verified by means of EEG and various other examinations. The family history is also interesting in the anamnesis. It is important to rule out other diseases as the cause of the involuntary muscle contractions.
Since the quality of life can be significantly restricted by the disease, depression or the impossibility of an unrestricted working life as a result cannot be ruled out. This is another reason why it is important to give those affected clarity about their illness.
With an interdisciplinary combination of different medical applications, the quality of life of those affected can be improved. Physiotherapy and psychotherapy can also be added.
Treatment & Therapy
The pull Oppenheim syndrome cannot be treated causally because the disease is genetic. Instead, the focus is on treating the symptoms. Various medicines are used to relieve the symptoms and improve the quality of life. For example, injections of botulinum toxin are possible to locally paralyze the muscles.
In general, benzodiazepines or anticholinergics are also used. Sometimes a so-called deep brain stimulation is used. In addition, physiotherapy plays an important role. Psychotherapy and speech therapy may also be indicated. In principle, modern therapy methods make it possible to maintain a relatively high quality of life with the Zügen-Oppenheim syndrome.
Prevention
The Zug-Oppenheim syndrome cannot be prevented because it is a hereditary disease. Individually tailored treatment methods are all the more important.
Aftercare
In most cases, those affected have only limited and only a few direct follow-up care options available to those affected by the Zug-Oppenheim syndrome, so that those affected should ideally see a doctor as soon as the first signs and symptoms of this disease appear.
Even if you want to have children, you should first have a genetic examination and counseling to prevent a recurrence of the Zug-Oppenheim syndrome. A complete cure of the disease cannot be achieved because it is a genetic disease. In the treatment of the Zügen-Oppenheim syndrome, most of those affected rely on the measures of physiotherapy and physiotherapy to relieve the symptoms.
Some of the exercises can be repeated at home, which speeds up healing. In addition, it is not uncommon for various medications to be taken. The person concerned should always ensure that the dosage is correct and that it is taken regularly. In most cases, the syndrome does not reduce the life expectancy of the person affected, although a general prediction cannot be made.
You can do that yourself
In most cases, those affected by the Pull-Oppenheim Syndrome are confronted with sometimes considerable limitations in their everyday lives. Your quality of life is significantly reduced by the disease. Involuntary contractions in different parts of the body often occur. In addition to the motor disorders, many of those affected also experience cognitive limitations, which can also make everyday life more difficult.
Some patients can still pursue a regular professional life or everyday school life. However, you always need help. In many cases it is necessary for parents or relatives to support the patient. Various side effects can occur as a result of the drug treatment of the Zügen-Oppenheim syndrome. In principle, however, a healthy lifestyle can help to cope with such complaints. The basis for this is a balanced diet. Slight movement also has a positive effect on the well-being of the patient. Those affected should not drink alcohol and refrain from smoking.
Often times, people with Zug-Oppenheim Syndrome develop mental health problems. The disease is often a great burden for the entire family. For this reason, it is advisable to visit a self-help group for those affected by the Zug-Oppenheim syndrome. There are also various Internet forums for exchange among those affected.
