Huntington’s chorea or Huntington’s disease is a nerve disease in which uncontrolled movements of various parts of the body occur in particular. Most often, the disease occurs between the ages of 30 and 40.
What is Huntington’s disease?
Huntington’s disease or Huntington’s disease, formerly known as “hereditary St. Vitus’ dance,” is a nervous disease that has its cause in the mutation of the genetic material. Symptoms include uncontrolled facial expressions, difficulty swallowing and speaking, and excessive movements of the limbs, neck, and trunk. Huntington’s disease was first described at the end of the 19th century. To date, numerous therapeutic options exist that are intended to alleviate the symptoms. However, a cure has not been possible to date.
Causes
Huntington’s disease is a hereditary disease that is passed on to the child in an autosomal dominant manner. This means that the defective gene, is not located on a sex chromosome (the X or Y chromosome) and thus can already appear if only one parent inherits the diseased gene. If one of the parents carries the mutated gene, each child has a 50 percent risk of also developing the disease. The mutated gene, which is located at the end of chromosome 4, is responsible for producing the protein huntingtin in healthy people. The mutation causes the affected gene to make huntingtin, but the protein has additional properties. These additional pathogenic properties ensure that nerve cells in the cerebral cortex are not formed or cannot regenerate. In healthy humans, these large clusters of cells control the coordinated sequence of movements.
Symptoms, complaints, and signs
Involuntary and uncontrollable movements are often the first signs of Huntington’s disease. In the early stages, the disease is noticeable through barely perceptible muscle twitches that affected individuals can often still incorporate into their natural movements. As the disease progresses, these exaggerated and unmotivated muscle contractions become unmistakable all over the body. Walking and performing everyday activities thus become increasingly difficult. The haphazard motor activity increases during excitement, and the so-called choreatic movements rarely occur during sleep. In the advanced stage, patients lose control of the tongue and pharyngeal muscles: speech becomes increasingly incomprehensible, and when eating, swallowing problems can cause choking. Huntington’s disease also affects a person’s psyche and behavior. The progressive death of brain cells often leads to a change in character, and it is not uncommon for sufferers to be aggressive or hurtful to those around them. Since people with Huntington’s disease also lose control of their facial muscles, they are unable to express their feelings through facial expressions. This often leads to misunderstandings with people around them. Social withdrawal and dwindling mental abilities result in many cases in depression, anxiety, psychosis and suicidal thoughts, even actual suicide. The final stage of the disease is usually accompanied by complete dementia and bedriddenness.
Diagnosis and progression
Huntington’s disease has a wide variety of symptoms that only become more prominent as the disease progresses. This makes a clear diagnosis difficult, especially in the early stages. Diagnosis based on symptoms proves difficult because they could often indicate other diseases. If Huntington’s disease is suspected, the diagnosis can be made years before the onset of the disease by a variety of means such as computer tomography, magnetic resonance imaging and brain wave measurements. DNA analysis is also performed as part of a blood test. At the onset of the disease, affected individuals are usually between 35 and 45 years old. If the disease appears later, the development of symptoms is also less rapid. A characteristic feature of Huntington’s disease is the death of nerve cells, which progresses more and more rapidly in the course of the disease. Huntington’s disease progresses over several years and decades, during which the symptoms worsen. Some affected individuals live with the disease for up to 40 years. Premature death usually occurs due to breathing or swallowing problems.
Complications
Because Huntington’s disease cannot be treated, there is a worsening of symptoms such as limited mobility, loss of the ability to speak, or further cognitive impairment. Affected patients can no longer cope with everyday life and require extensive care. There is evidence that speech therapies or physiotherapies slow down the progression of the disease. However, this needs to be tested and verified with a higher number of patients in the future. From the onset of the first symptoms to death occurs in about 20 years despite drug treatment of the symptoms. The greatest risk to patients is the development of pneumonia. This comes from worsened coordination in breathing as well as difficulty clearing mucus from the lungs. Some patients may also develop heart disease, which then leads to death. In addition to these causes of death, suicide may also occur. Suicide may be triggered by Huntington’s disease and the brain damage it causes, or the patient may wish to avoid living through the deterioration of the disease. Furthermore, the patient may easily swallow food. Because of this, a caring person must also be available to assist the patient with food intake.
When should one go to the doctor?
Huntington’s disease or Huntington’s disease used to be called St. Vitus’ dance because of the involuntary movements that affected individuals perform. Because the symptoms of this hereditary disorder usually do not appear until later in life, it makes sense to see a doctor when movement disorders occur. Only a genetic test can prove that it is actually the hereditary disease Huntington’s disease. Alternatively, the symptoms could also be caused by a brain tumor, a stroke, thyroid disorders or similar. The problem is that without a timely visit to the doctor, it is not possible to determine whether it is actually Huntington’s disease. There could also be choreatoform genetic disorders such as Huntington’s disease-like disorders, Wilson’s disease of copper storage, Friedrich ataxia, spino-cerebellar ataxia types 1, 2, 3, 17, or neuroacanthocytosis. Medical evaluation is essential in unexplained movement disorders to weigh treatment options. Currently, medical treatment for Huntington’s disease can only be symptom relief. This involves compensating for movement disorders, depression, aggressiveness or psychosis. Nerve cells in the brain are increasingly lost. In the future, gene therapy could result in a breakthrough in treatment. Currently, modern medicine offers innovative treatment approaches through stem cell transplantation or the implantation of a brain pacemaker. The extent to which these measures are helpful has yet to be clinically verified.
Treatment and therapy
According to the current state of research, a cure for Huntington’s disease is not possible. Accordingly, treatment can only aim to alleviate the numerous symptoms as much as possible. Various medications with the active ingredients tiapride and tetrabenazine are used to limit the uncontrolled movements. In addition, those affected often receive physical and occupational therapy as well as speech therapy. In this way, the speech and swallowing difficulties typical of the disease can be alleviated and an independent life is possible for the time being, even in the further course of the disease. Patients suffering from Huntington’s disease also receive psychotherapeutic care to help them cope better with the stresses of the disease. In the further course of Huntington’s disease, there is often a severe loss of weight, which is to be mitigated by a particularly high-calorie diet of the affected person. Some therapies to alleviate or even cure Huntington’s disease are still in the experimental stage. For example, the administration of enzymes can slightly slow down the deterioration of the nerve cells. However, a drug therapy that can completely prevent the neurons from breaking down is not yet known.
Outlook and prognosis
Huntington’s disease has a poor prognostic outlook. In addition, the disease is not curable with current medical and legal options.The genetic disease has a progressive course that cannot be stopped despite all efforts. The measures taken by physicians focus on achieving a slow progression of the disease and maintaining the existing quality of life for as long as possible. According to the calculated values, on average, the patient’s demise occurs about 19 years after the disease is diagnosed. Thanks to medical progress and medical research, in recent years it has been possible to maintain the individual phases of Huntington’s disease longer and to postpone the onset of death. In addition, there are more therapeutic options within individual phases to be able to stabilize the patient and improve the general well-being. The available therapeutic options are recommended and used on a completely individual basis depending on the current symptoms. In order for the patient to receive optimal care, regular check-ups should be used. In addition, specialists in specially established centers for the treatment of Huntington’s disease can better ensure adaptation to the course of the disease. Since not all recommended therapies are financed by health insurance companies, the course of the disease is significantly influenced by the patient’s financial means.
Prevention
Huntington’s disease cannot be prevented. An affected person who carries the mutated gene will become ill in any case. Children of affected individuals carry a 50% risk of also developing Huntington’s disease. There is no way to prevent this risk. The only options are not to have children in the flesh, prenatal testing of the genetic material of the unborn child, and – if Huntington’s disease is confirmed – possible abortion. However, this is ethically highly controversial.
Follow-up
Huntington’s disease is not yet curable. This makes it all the more important to avail oneself of constant and continuous therapy and treatment. Treatment aims to relieve symptoms and improve quality of life. Movement disorders can be treated with the help of neuroleptics. Depression can be treated with antidepressants. In addition to medication, physiotherapy and occupational therapy can be helpful for patients. In this way, an attempt can be made to improve the coordination of movements. The use of a speech therapist to counteract and reduce speech and swallowing disorders is also advisable. Despite treatment with neuroleptics and antidepressants, psychotherapy and psychiatric help should also be considered. This can be a relief not only for the patient himself, but also for the relatives. Often, patients also benefit from participating in a support group of other affected persons. Since patients with Huntington’s disease often quickly run the risk of losing weight due to the difficulty of eating, high-calorie and easy-to-absorb food should be provided. Foods that are easy to swallow, such as porridge, pudding, cottage cheese and liquids, are suitable here. Finally, experimental approaches should not be categorically excluded. New therapies and treatment methods should be considered. There is definitely a chance that more symptom freedom can be achieved as a result.
Here’s what you can do yourself
Self-help options are limited in Huntington’s disease. Through the course of the disease, there are no options that lead to symptom relief or cure, according to current scientific knowledge. The course of the disease is progressive, so that sufferers should pay attention to maintaining their well-being in everyday life despite the increasing symptoms. To avoid surprises or unpleasant situations, it is helpful if the person affected is fully informed about the development of the disease. At the same time, the close social environment should be informed. By informing them, situations of excessive demands can be prevented or minimized. Since it is a hereditary disease, an exchange of experience among sufferers is helpful. Participation in social life is important for mental health. Leisure activities and sufficient exercise improve well-being.In addition, with a healthy lifestyle, the organism and the immune system can be sufficiently strengthened. Harmful substances such as alcohol and nicotine are to be avoided. With a balanced and vitamin-rich diet, sufficient sleep and the observance of rest periods, the body is given new strength. At the same time, it can defend itself against invading pathogens. For mental strengthening, various relaxation methods such as meditation or yoga can be used. This helps with the emotional handling of the disease.