Huntington's disease (also known as Huntington's disease or chorea major) is a hereditary brain disease that only occurs rarely. It is caused by a faulty gene. In Germany, around 10,000 people suffer from Huntington's disease. It is incurable and in most cases breaks out between the ages of 35 and 45.
The course of the disease varies from patient to patient.
Typical symptoms are
- Neurological and mental disorders
- Changes in movement sequences
- Changes in behavior
In later stages, intellectual abilities are also reduced as the nerve cells in the brain are slowly destroyed. In the final stage, those affected suffer from dementia.
On average, the disease leads to death 15-20 years after onset.
The causes of the disease
Huntington's disease is caused by the destruction of nerve cells in certain regions of the brain. The disease occurs equally frequently in women and men.
The gene that causes the disease is not located on the X and Y chromosomes (which determine gender), but on the autosomes. The body is equipped with two of these chromosomes: one from the father and one from the mother. If one parent carries the genetic mutation, the child has a 50% chance of developing Huntington's disease.
In rare cases (2 to 5 percent) of those affected, there is no known disease in the family of origin. In these cases, it may be a matter of newly developed mutations. The changes are not in the genetic material.
Areas of the brain of people with Huntington's disease gradually deteriorate @ Dr_Microbe /AdobeStock
The changes manifest themselves as follows:
- Affect and drive disorders, impulsive behavior and disinhibition.
- Patients are irritable and aggressive. Some develop depression or increasing anxiety. A progressive loss of mental abilities becomes noticeable.
- The movement disorders are usually sudden, uncontrollable and excessive. At first, they look like exaggerated gestures.
- The muscles of the tongue and throat are also affected.
- Speech seems unintelligible and choppy.
- Difficulty swallowing occurs. Eating becomes more difficult and food can enter the windpipe. There is a risk of pneumonia.
- Later stages of the disease are characterized by muscle stiffness and severe loss of mobility. The loss of muscle control is also noticeable in the face (sudden grimacing).
- Patients usually react to the reactions of those around them with depression, resignation or suicide.
- The brain's ability to process information decreases and it becomes increasingly difficult to interpret the facial expressions of others. Patients increasingly lose their cognitive abilities and some develop delusions.
After 15 years, almost all patients develop dementia. In the final phase. Those affected are usually bedridden and dependent on care.
The diagnosis
If family members already have the disease, Huntington's disease is also an obvious diagnosis for patients with symptoms. However, psychiatric and neurological examinations are required to confirm this diagnosis and determine the extent of the nerve damage.
Other diseases can also cause these symptoms. As Huntington's disease is very rare, GPs and practicing neurologists often have little or no experience.
It is therefore advisable to consult experienced specialists at one of the existing Huntington's disease centers. A molecular genetic test provides evidence of the altered gene.
A CT (computer tomography) or MRI (magnetic resonance imaging) shows how severely individual regions of the brain are affected. ENG (electrophysiological diagnostics) methods can be used to check the functionality of nerve cells and the nervous system.
Even healthy people who have an increased risk due to their family background can be tested using genetic testing. In this way, those affected can clearly determine whether they will develop Huntington's disease in the future.
Knowing that you are a carrier of this genetic mutation is often problematic. The actual proof often has a negative effect on the mental state. This is why people with a genetic risk usually do not want proof.
This is why genetic testing is subject to strict legal guidelines.
These include
- The patient needs to be carefully informed in advance about the psychological consequences of an abnormal test
- Minors are not permitted to undergo such tests.
- Tests may not be carried out at the request of third parties (employers, insurance companies or adoption agencies)
The first signs of the disease usually appear between the ages of 35 and 45. Very rarely, symptoms appear as early as childhood.
An early onset of the disease often results in a severe course of the disease.
The psychological symptoms often begin several years before the movement disorders. In most cases, hyperkinesia (involuntary movements) is noticed first, followed later by a lack of movement.
Swallowing disorders often lead to loss of appetite and loss of strength. Sufferers become increasingly dependent on care.
Stress can acceleratethe development of the disease. Balanced living conditions, on the other hand, have a positive effect on the course of the disease.
Huntington's disease cannot be cured or treated, as the deterioration of the brain cells cannot be halted.
Various forms of therapy are available to treat and alleviate individual symptoms. Doctors adapt them individually to the patient's needs, as the disease progresses differently:
- Drug therapy: There are drugs that alleviate and mitigate certain symptoms. For example, neuroleptics can be used for severely uncontrolled movements. Doctors use antidepressants for depressive moods.
- Physiotherapy, occupational therapy, speech therapy and special diets help to maintain independence and mobility in the long term.
- Swallowing therapy is also important and can be life-sustaining.
- Huntington's disease centers: As Huntington's disease is a rare disorder, therapy and treatment is a challenge for most doctors. Specialized Huntington's disease centers, on the other hand, have the necessary experience. As a patient and family member, you are in the best hands there.
