Huntington's disease is a genetically inherited neurological disorder characterized by gradual damage to nerve cells in the brain. In addition to negatively affecting the physical mobility of the person, it also causes emotional and cognitive problems. In Huntington's disease, which is currently not fully cured, various methods are used to control the emerging complaints. You can follow the rest of the article for other topics you are wondering about this disease.
What is Huntington's Disease?
Huntington's disease is a rare disease characterized by progressive degeneration (loss) of nerve cells. With the development of Huntington's disease, most of the abilities necessary for life are negatively affected. In the presence of Huntington's disease, which presents various complaints before the age of 20, this condition is defined as juvenile Huntington's disease. In these early-onset cases, various differences can be observed in the complaints of the patients, and it is very important that people be kept under close surveillance, as the disease may follow a more serious course. Complaints caused by Huntington's disease are tried to be controlled by using various drugs. However, it is not possible to prevent the progression of the disease with these treatment interventions.
What are the Symptoms of Huntington's Disease?
Symptoms associated with Huntington's disease may vary depending on whether the disease has an early or adult onset. Adult-onset Huntington's disease is more common than early-onset Huntington's disease. The complaints that occur in these people usually occur between the 30s and 40s of life. Some of the complaints that may occur initially with the development of the disease are as follows:
- The appearance of mild involuntary movements,
- Loss of coordination.
- Restlessness,
- Hallucination vision,
- Psychosis,
- Depression,
- Involuntary muscle movements called chorea,
- Difficulty walking,
- Personality changes,
- Problems with swallowing and speech,
- Changes in speech,
- Confusion,
- Memory loss,
- Decreased cognitive functions.
The symptoms of Huntington's disease are mainly mobility, cognitive functions and occur on changes in psychiatric status. It should be noted that the severity and frequency of the symptoms may vary from person to person.
What Causes Huntington's Disease?
Huntington's disease is a genetic disorder and is caused by various mutations in genes. A mutation in the gene called HTT, which is considered responsible for this disease, causes the production of a faulty mutant protein. In line with this faulty protein and the pathological processes it triggers, losses occur in the brain cells of the person. Almost all cases of Huntington's disease are familial cases. Due to the dominant character of the transferred faulty gene, the disease occurs in a person who inherits a single faulty gene from his family. When examined in terms of probability, if one of the parents of the person has Huntington's disease, the risk of developing this disease is expressed as 50%. In a different way, the disease is most likely to occur in an individual who inherits the faulty gene copy from his family. However, it should be kept in mind that Huntington's disease may occur with subsequent mutations in a person who does not have a faulty gene in his family very rarely. and family history as a whole. It is very important to perform a neurological examination of the patient during the physical examination. In addition to the examination of motor abilities such as muscle strength, reflex and balance in the neurological examination, it is also possible to examine the condition of the patient in terms of sensory and psychiatric aspects. r.
After physical examination and history taking, various radiological imaging methods can be used to reveal structural changes in the brain. Investigations such as magnetic resonance imaging (MRI) and computed tomography (CT) provide detailed images of brain structures. Radiological imaging methods are also important to rule out other possible conditions. As a result of these examinations, it is possible to detect the brain regions affected by Huntington's disease in the person. It should be noted that changes in the affected brain regions may not be present in the early period of the disease. Thanks to this genetic test, the diagnosis of Huntington's disease is confirmed.
What is the Treatment for Huntington's Disease?
There is no treatment method that provides full control of Huntington's disease yet. Prescription of various drugs can be applied to relieve the complaints, especially those on mobility and psychiatric conditions. Thanks to the treatment interventions, it can be ensured that the patients adapt to the decrease in their functions faster and their functionality is preserved to a certain extent. The dosage and variety of the drugs applied vary according to the course of the disease. At the same time, it should be kept in mind that some worsening may occur in other complaints of the disease due to the side effects of the drugs used. These drugs do not have any effect on the progression of the disease. At the same time, side effects such as drowsiness and restlessness may occur with the use of these drugs, and there is a possibility that psychiatric conditions such as depression may be triggered. among the agents. However, even if choreic-like movements are suppressed after the use of these drugs, care should be taken as some worsening may occur in other involuntary contractions due to the disease. Many psychiatric problems may also occur in Huntington's patients. In order to control these conditions, various antidepressants, antipsychotics and mood stabilizers may be beneficial when necessary. In addition to drug therapy, some patients may also benefit from psychotherapy.
Speaking therapies form an important part of Huntington's disease treatment planning. Problems that occur in the speech centers of the brain during the course of the disease or in the parts of the brain that control the speech-related muscles in the mouth; It can cause various complaints such as eating and swallowing problems, especially speaking. In such cases, speech therapists perform therapy on how the person can adapt to an extra speech device, if any, and how the person can perform their current speech in a more understandable way if such a device is not considered necessary. In addition to speech therapy, physical therapy therapies can also be beneficial for problems related to muscle functions. It is not possible to stop the progression of Huntington's disease. The rate of progression also varies from person to person. Estimated life expectancy in cases of adult-onset Huntington's disease is approximately 15-20 years from the first occurrence of complaints. In early-onset forms, the disease tends to worsen more rapidly.
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