Huntington’s chorea: causes, symptoms, stages and treatment

This degenerative disease affects the areas of the brain involved in voluntary movement.

One of the best known hereditary diseases is Huntington's chorea, a degenerative and incurable disorder that causes involuntary that causes involuntary movements and other symptoms that affect multiple areas of a person's life, progressively incapacitating him or her.

In this article we will describe the causes of Huntington's disease, as well as the most common symptoms and the stages to the most common symptoms and the stages through which they progress.. Finally, we will talk about the treatments that are usually applied to minimize the alterations as far as possible.

Huntington's chorea: definition and symptoms

Huntington's chorea is a hereditary degenerative disease that affects the brain. and causes various physical, cognitive and emotional symptoms.

It is incurable and eventually leads to death, usually within 10 to 25 years. Drowning, pneumonia and heart failure are common causes of death in Huntington's disease.

When symptoms begin before the age of 20 years, the term "juvenile Huntington's disease" is used. In these cases the clinical picture is somewhat different than usual and the disease progresses more rapidly.

The most characteristic sign of this disease is the chorea that gives it its name.. It is known as "chorea" to a set of neurological disorders that cause involuntary and irregular contractions of the muscles of the feet and hands. Similar movements also occur in the face.

In the case of juvenile Huntington's chorea the symptoms may be somewhat different. These include difficulties in learning new information, motor clumsiness, loss of skills, gait stiffness and the appearance of speech disturbances.

Causes of this disorder

Huntington's chorea is due to a genetic mutation that is inherited by a 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 is also partially dependent on inheritance and influences the development of symptoms. In the most severe cases the affected gene (huntingtin) manifests itself very early and severely.

This disease affects the whole brain; however, the most important lesions occur in the basal gangliaHowever, the most important lesions occur in the basal ganglia, subcortical structures related to movement. The area known as the neostriatum, which is composed of the caudate nucleus and putamen, is particularly affected.

Development of the disease

The symptoms of Huntington's disease vary from case to case. However, its 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 phases of the disease; it is important to control it as it can have very negative consequences for health.

1. Initial phase

During the first few years the disease may go unnoticed.Early signs of Huntington's disease may be subtle, involving unremarkable impairments in movement speed, cognition, coordination or gait, as well as the appearance of choreic movements and rigidity.

Emotional disturbances are also very common in the early stage. In particular, there is irritability, emotional instability and decreased mood, which may meet the criteria for major depression.

2. Intermediate stage

In this phase Huntington's disease is more visible and interferes to a greater extent with the patients' lives. Chorea is particularly problematic. Difficulties in speaking, walking or handling objects These symptoms, together with cognitive impairment, which begins to be significant, make independence and self-care difficult.

On the other hand, the worsening of emotional symptoms tends to impair social relationships. In good part this is due to the behavioral disinhibition derived from Huntington's disease, which causes aggressiveness or hypersexuality in some people, among other disruptive behaviors. Subsequently, sexual desire will decrease.

Other typical symptoms of the intermediate phase are the decrease of pleasure (anhedonia) and disturbances in the disturbances in falling or staying asleep, which are very distressing.which are very distressing for patients.

3. Advanced stage

The last stage of Huntington's chorea is characterized by the inability to speak and to execute inability to speak and to execute voluntary movementsalthough most people retain awareness of their surroundings. Difficulties in urination and defecation also occur. Therefore, in this period patients are completely dependent on their caregivers.

Although the choreic movements may worsen, in other cases they are attenuated when the disease is at a very advanced stage. Swallowing difficulties increase and may lead to death by drowning. In other cases, death occurs as a result of infections. Also many suicides also occur at this stage..

The progression of the disease is usually more rapid when it appears at an early age, especially in children and adolescents, so that the symptoms of the advanced stage appear earlier.

Treatment and management

There is currently no known cure for Huntington's disease, so physical and cognitive deterioration does not occur. physical and cognitive deterioration cannot be halted.. However, there are symptomatic treatments that can alleviate discomfort and increase the independence of affected individuals to some extent.

Dopamine blockers are used to treat the abnormal behaviors inherent to the disease, while drugs such as tetrabenazine and amantadine are usually prescribed for additional movements.

As the disease progresses, physical aids that facilitate or enable physical aids that facilitate or enable movement, such as handrails, are introduced as the disease progresses.such as handrails. Physical therapy may also be helpful in improving movement control, and physical exercise benefits overall health, including psychological and emotional symptoms.

Speech and swallowing difficulties can be reduced by speech therapy. Special eating utensils are used until tube feeding becomes necessary. It is recommended that the diet be based on nutrient-rich, easy-to-chew foods and easy to chew to minimize the patient's problems.