Chorea huntington
Ingrid Müller is a chemist and medical journalist. She was editor-in-chief of for twelve years. Since March 2014 she has been working as a freelance journalist and author for, among others, Focus Gesundheit, the health portal ellviva.de, the publishing house living crossmedia and the health channel of rtv.de.
More about the experts All content is checked by medical journalists.Huntington's disease (Huntington's disease, obsolete: St. Vitus's Dance) is a disease of the brain that is inherited. In people with Huntington's disease, areas of the brain that are important for muscle control and psychological function are gradually destroyed. The nerve cells slowly perish. The cause is a faulty gene. Read more about Huntington's disease.
ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. G10
Huntington's disease: description
Huntington's disease is a very rare hereditary disease of the brain, affecting around seven to ten in 100,000 people in western Europe and North America. In Germany, around 8,000 people suffer from Huntington's disease.
Huntington's disease can break out at any age. The first symptoms of Huntington's disease often show up between the ages of 35 and 45, but they can also appear in early childhood or old age. This also depends on where exactly the disease-causing change (mutation) lies in the genetic make-up. Typical symptoms are movement disorders and changes in personality through to dementia.
The possibilities for influencing the course of Huntington's chorea are limited. A large number of substances were tested that protect the nerve cells and stop the progressive neuronal destruction. So far, however, none of these substances has had a significant effect on the course of the disease. However, there are some medications available that can help reduce symptoms of Huntington's disease.
There are support groups that help people with Huntington's disease and their loved ones.
Where the name "Huntington's Disease" comes from
Huntington's chorea goes back to the US doctor George Huntington, who first described the disease in 1872. He also realized that Huntington's disease is inherited. The name comes from the Greek - "choreia" = "dance". Huntington's disease has several names: Huntington's disease, Huntington's disease or, in the past, St. The reason is that patients gradually lose control of their movements - which can be faintly reminiscent of a dance.
Huntington's disease: symptoms
Huntington's disease: early stages
Huntington's disease often begins with unspecific symptoms, such as mental health problems, that progress. Many patients are more irritable, aggressive, depressed or disinhibited; others feel a loss of spontaneity or an increasing anxiety.
The movement disorders in Huntington's disease usually consist of sudden, involuntary movements of the head, hands, arms, legs or trunk. In extreme cases this can lead to a prancing gait typical of the disease. This is why Huntington's disease was also called "St. Vitus's Dance" in the past.
People with Huntington's disease can often incorporate these exaggerated and unwanted movements into their movements initially. For the observer, this creates the impression of exaggerated gestures. In many cases, those affected do not initially notice their movement disorders as such.
Huntington's Disease: Later Stages
As Huntington's disease progresses, the tongue and throat muscles are also increasingly affected. The language seems choppy, sounds are uttered explosively. Swallowing disorders are also possible - then there is a risk that those affected swallow food components and develop pneumonia.
As Huntington's disease progresses, patients often inexorably lose their mental faculties. After about 15 years, dementia can be detected in almost all those affected.
In the final stages of Huntington's disease, patients are mostly bedridden and completely dependent on the help of others.
Huntington's disease - like diseases
Symptoms similar to those of Huntington's disease can also be triggered by other, non-hereditary causes. Examples are the consequences of infectious diseases or a hormonal change during pregnancy (chorea gravidarum). Medications and hormonal contraceptives (like the pill) are less common triggers. This also applies to strokes that affect certain regions of the brain. Due to circulatory disorders in the brain, a form of chorea can occur even in old age. It is believed that diseases such as hyperthyroidism can also lead to chorea. The course is not progressive here, however, and the movement disorders usually recede again. Severe psychological symptoms are atypical in such cases.
Huntington's disease: causes and risk factors
Huntington's disease is caused by the genetic death of nerve cells in certain areas of the brain. The disease can affect both men and women because the gene responsible is not inherited in a sex-linked manner - i.e. not on the sex chromosomes X and Y, but on the autosomes. These are those chromosomes that do not determine the sex and that exist in two copies (one from the mother, one from the father).
Any child of a parent who carries the defective gene has a 50 percent risk of getting the defective gene and developing Huntington's disease. Experts speak of an autosomal dominant inheritance. Dominant means that the disease breaks out even if the corresponding gene is changed on only one of the two paired chromosomes.
Inheritance - error on chromosome four
The molecular alphabet of the genetic material (deoxyribonucleic acid, short DNA or DNA) consists of four nucleic acids: adenine, thymine, guanine and cytosine. New combinations of these four letters form the entire genetic information, which is stored in the form of thread-like structures, the so-called chromosomes.
In Huntington's disease, one gene on chromosome four is changed (also called the Huntington's gene). It was identified in 1993. The protein that is encoded by this gene doesn't work properly, which eventually leads to symptoms of Huntington's disease.
In healthy people, the three nucleic acids cytosine-adenine-guanine repeat 10 to 30 times in this area on chromosome four. With more than 36 cytosine-adenine-guanine repeats (CAG repeats or CAG triplets), Huntington's disease breaks out. 30 to 35 CAG repetitions are considered the gray area.
No blood relative with Huntington's disease can be found in around one to three percent of those with Huntington's disease. Either it is a completely new gene change, a so-called new mutation. Or a parent of the HD sufferer had 30 to 35 repetitions and they didn't get the disease. In the next generation, the number of repeats often increases. More than 36 children will develop Huntington's disease.
The more CAG repeats counted on chromosome four, the earlier Huntington's disease breaks out and the faster the disease progresses.
The death of nerve cells in Huntington's disease affects the cerebral cortex and above all the so-called basal ganglia. These are large groups of nerve cells inside the two halves of the brain, which, among other things, play a role in the coordinated sequence of movements.
Huntington's disease: examinations and diagnosis
If Huntington's disease is suspected, it is best to see a specialized Huntington's disease center with appropriately experienced neurologists. Because family doctors and sometimes “normal” neurologists have never seen a patient with this disease.
At the beginning of the diagnosis of Huntington's disease there is a detailed survey, including family history (anamnesis). It is interesting for the doctor whether close relatives (parents, grandparents) have Huntington's disease. Also important for the diagnosis are the symptoms of Huntington's disease (in the early stages they can also indicate other diseases), the course of the disease and abnormalities in the neurological examination.
The diagnosis is confirmed by a blood test. The excessive number of repetitions of the same base pairs (CAG) in a certain gene on chromosome four can be detected by means of molecular genetic testing.
If no genetic change can be found, blood is drawn again to rule out diseases that may initially show symptoms similar to Huntington's disease. Among other things, thyroid values and the concentration of certain autoantibodies (antibodies that are directed against the body's own substances) in the blood are determined.
Determine nerve damage
To determine the extent of nerve damage, people with Huntington's disease are also examined neurologically, neuropsychologically, and psychiatrically. These examinations are carried out either by experienced doctors or specially trained neuropsychologists.
Imaging examinations such as computed tomography (CT) or magnetic resonance imaging (MRI) of the brain can show the breakdown of individual areas of the brain (for example the so-called tail nucleus and the cerebral cortex). Electrophysiological diagnostics can also provide important information about Huntington's disease in individual cases.
Genetic testing for Huntington's disease
Even healthy people at increased risk of Huntington's disease can get a genetic test. Doctors speak of predictive diagnostics or predictive diagnostics. This test is a clear way of determining whether or not someone will develop Huntington's disease.
This knowledge of being the carrier of this genetic change can, however, have a massive impact on the psyche of those affected. Therefore, there are guidelines in place on how to get a genetic test for Huntington's disease. The persons concerned must, among other things, be informed about the risks beforehand. No genetic testing may be carried out on minors. Not even in the case of persons at the request of third parties, for example doctors, insurance companies, adoption agencies or employers.
Huntington's disease: treatment
Huntington's Disease Drugs
Huntington's disease cannot be treated causally and is not curable. However, certain medications will relieve symptoms. The active ingredients tiapride and tetrabenazine can restrict excessive and uncontrolled movement by counteracting the body's own messenger substance dopamine. In depressive moods, antidepressants from the group of selective serotonin reuptake inhibitors (SSRI) or sulpiride can reduce the symptoms.
There is no official therapy recommendation against the development of dementia in Huntington's disease. In some studies, the active ingredient memantine was able to slow down mental decline.
In addition to drug-based Huntington's disease therapy, supportive measures such as physiotherapy, occupational therapy and speech therapy can also help alleviate the symptoms. For example, speech or swallowing disorders can be improved through special exercises. In addition, occupational therapy can be used to train the activities of everyday life. This enables people with Huntington's disease to remain independent for longer. Psychotherapy helps many sufferers to cope better with the disease. Self-help groups are also a great support for many.
Because many people with Huntington's disease lose weight significantly over the course of their illness, a high-calorie diet makes sense. In some cases, being slightly overweight improves symptoms of Huntington's disease.
Huntington's Disease Research
Therapies that could halt the underlying breakdown process in Huntington's disease are not yet known. Various new approaches are being pursued in drug-based Huntington's disease therapy, but these are still in the experimental stage. Studies have shown that high doses of CoEnzyme Q10 have slightly positive effects, but overall they do not influence the course of the disease. CoEnzyme Q10 is a protein that occurs naturally in the body and protects the cells from damage.
Another active ingredient used to treat Huntington's disease is ethyl icosapent, a drug specially developed for Huntington's disease that is made from the fish oil component eicosapentaenoic acid. Ethyl-Icosapent is intended to prevent damage to certain cell components that play a role in cell death and to increase the efficiency of the diseased nerve cells. This drug was also unable to bring about any improvement in the movement disorders.
Huntington's disease: disease course and prognosis
Huntington's disease has no cure. Those affected die an average of 19 years after Huntington's disease onset. This is only an average value, which means that individual people can also die much later or earlier from the consequences of Huntington's disease.
The symptoms that those affected develop and how well they respond to the various medications varies greatly. Only specialists who deal with Huntington's disease on a daily basis are sufficiently familiar with the many peculiarities of the disease. It is therefore advisable for HD patients to have themselves checked regularly at one of the HD centers in Germany in order to adapt the individual therapy to the current course of the disease.
For relatives and life partners of people with Huntington's disease, the disease is emotionally, sometimes also financially, very stressful. Deutsche Huntington Hilfe e.V. is available to families of those affected by providing valuable advice and important addresses if necessary.
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