One of the most well-known hereditary diseases is Huntington’s chorea, a degenerative and incurable disease which causes involuntary movements and other symptoms that affect several areas of a person’s life, gradually turning them off.
In this article we will also describe the causes of Huntington’s disease the most common symptoms and the stages through which they progress. Finally, we will talk about the treatments generally applied to minimize alterations as much as possible.
Huntington’s Korea: definition and symptoms
Huntington’s Korea is an inherited degenerative disease that affects the brain and causes various symptoms of a physical, cognitive and emotional nature.
It is incurable and eventually causes death, usually after 10 to 25 years. Drowning, pneumonia and heart failure are common causes of death in Huntington’s disease.
When symptoms start before the age of 20, the term “juvenile Huntington’s disease” is used. In these cases, the clinical picture is somewhat different from the usual one and the progression of the disease is faster.
The most characteristic sign of this disease is the Korea which gives it its name. It is known as “chorea” for a group of neurological disorders that cause involuntary and irregular contractions of the muscles of the feet and hands. Similar movements on the face also occur.
In the case of Juvenile Korea of Huntington the symptoms may be somewhat different. Highlights include difficulty learning new information, motor awkwardness, loss of skills, gait stiffness, and the onset of speech impairment.
Causes of this disorder
Huntington’s chorea is caused by a genetic mutation that it is inherited by an autosomal dominant mechanism. This implies that the children of an affected person have a 50% chance of inheriting the gene, regardless of their biological sex.
The severity of the mutation also depends in part on heredity and influences the development of symptoms. In the most severe cases, the affected gene (“huntingtin”) shows up very early and severely.
This disease affects the whole brain; But, the most important lesions occur in the basal ganglia, Subcortical structures related to movement. The so-called “neostriatum” area, which is made up of the caudate nucleus and the putamen, is particularly affected.
The symptoms of Huntington’s disease vary depending on the specific case. However, their progression is usually grouped into three distinct phases.
The alterations worsen under conditions of psychophysiological stress, as well as when the person is exposed to intense stimulation. Weight loss is also common in all stages of the disease; it is important to control it because it can have very negative consequences on health.
1. Initial phase
During the first years the disease may go unnoticed: The first signs of Huntington’s may be subtle, involving a slight noticeable alteration in speed of movement, cognition, coordination or gait, as well as the onset of chorionic movements and stiffness.
Emotional disturbances are also very common from the initial stage. Specifically, there is irritability, emotional instability, and low mood, which may meet the criteria for major depression.
2. Intermediate phase
At this point, Huntington’s disease is more visible and interferes more in the lives of patients. Korea is particularly problematic. Difficulty speaking, walking, or handling objects they are also increasing; Coupled with cognitive impairments, which are starting to be significant, these symptoms make it difficult for independence and self-care.
On the other hand, worsening emotional symptoms tend to damage social relationships. Much of this is due to Huntington’s derivative behavioral disinhibition, which causes some people to experience aggression or hypersexuality, among other disruptive behaviors. Subsequently, the sexual desire will decrease.
Other symptoms typical of the middle phase are decreased pleasure (anhedonia) and changes to reconcile or maintain sleep, Which are very distressing for the patients.
3. Advanced phase
The last stage of Huntington in Korea is characterized by the inability to speak and perform voluntary movementsWhile most people remain aware of the environment. There is also difficulty urinating and defecating. Therefore, during this period, patients are completely dependent on their caregivers.
Although chorionic movements may get worse, in other cases, they subside when the disease is at a very advanced stage. Swallowing difficulties increase and can lead to death by drowning. In other cases, death occurs as a result of infections. too much many suicides occur at this stage.
The progression of the disease is usually faster when it appears at an early age, especially in children and adolescents, so that the symptoms of the advanced stage appear earlier.
Processing and handling
There is currently no known cure for Huntington’s disease, so physical and cognitive impairment cannot be stopped. However, there are symptomatic treatments that can ease the discomfort and to some extent increase the independence of those affected.
Dopamine inhibitors are used to treat abnormal disease behaviors, while for additional movement drugs such as tetrabenazine and amantadine are usually prescribed.
As the disease progresses, they are introduced physical supports that facilitate or allow movement, Like handrails. Physiotherapy can also be helpful in improving movement control, and exercise is beneficial for overall health, including psychological and emotional symptoms.
Difficulty in speaking and swallowing can be reduced with language therapy. Special utensils are also used to eat until it is necessary to resort to tube feeding. It is recommended that the diet be based on nutrient rich foods and easy to chew to minimize patient problems.