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Huntington's disease (formerly known as Huntington's disease) is a condition associated primarily with the patient having a characteristic movement known as chorea. It also causes dementia and other mental disorders. Huntington's disease is caused by mutations and, unfortunately, is progressive. Are there treatments that can reduce the symptoms of people with Huntington's disease?

Huntington's disease(akaHuntington's disease ) is an entity with a rather interesting history. The first mentions of the disease associated with the occurrence of unusual, even bizarre movements in patients appeared as early as the Middle Ages. Later, for many years, reports of this disease were presented in various works, but the full description of it was not published until 1872 - its author was an American doctor, George Huntington, and it was his name that gave the name of the disease.

Huntington's disease affects an average of 5 to 10 out of 100,000 people in the general population - it should be noted here that in some parts of the world it is noticeably more prevalent (most cases are found, among others, in Eastern Europe, very Huntington's disease is rare in Asia or Africa). Women and men get sick with a similar frequency.

Huntington's disease: causes

Huntington's chorea is a genetic disease - it is caused by mutations that are inherited in an autosomal dominant manner. This means that it is sufficient to get the mutated gene from only one of the parents (Huntington's chorea is caused by mutations in the HTT gene).

This gene encodes a protein called huntingtin - although its role has not been clearly understood so far, it is noticeable that it affects the activity of nerve cells and defects in the gene encoding it can lead to various damages of these cells.

Nerve cell degeneration - which is progressive and over time in people with Huntington's disease - is responsible for the symptoms of this disease in patients.ailments.

The most common cause of Huntington's disease is indeed inheriting the mutant gene from your parents. Although rare, it also happens that the disease is the result of a mutation that only occurred in the sick person.

Huntington's disease: symptoms

Typically the first symptoms of Huntington's disease appear between the 3rd and 4th decades of life. However, it happens that the disease begins much earlier - when the first manifestations of the disease appear before the patient is 20 years old, it may be possible to develop juvenile Huntington's disease.

Patients suffering from this condition suffer from ailments from three areas, as Huntington's chorea develops:

  • movement disorders
  • cognitive impairment
  • various mental disorders

The most characteristic of Hutington's chorea are the first of the aforementioned ailments, i.e. movement disorders. Patients with this disease may experience difficulties with the planned movements, as well as involuntary peculiarities - this group of symptoms of Huntington's chorea include:

  • choreographed movements: involuntary movements, which are very characteristic, because they have a twisting and twisting character (by some they are compared to dancing); they usually affect the limbs, but can also affect other muscles in the body; it is quite typical that the intensity of chorea may increase when patients perform some deliberate movements
  • excessive muscle stiffness
  • muscle contractures
  • eye movement restriction
  • gait disturbance
  • difficulty maintaining a correct body posture
  • swallowing disorders
  • difficulties with articulation

The damage to the cells of the nervous system in Huntington's disease leads to ailments other than movement disorders. Patients may experience various disorders of executive functions, including:

  • difficulty focusing attention
  • reduce the degree of ability to control one's behavior (which leads, among others, to excessive impulsiveness)
  • slowing down your thinking
  • difficulties with the assimilation of information
  • memory disorders

The symptoms of Huntington's disease also include ailments in the field of mental disorders - the most common problem in this case is low mood, which can be of an intensity corresponding to the disordersdepressive.

In people suffering from this individual, it can lead to an inability to feel happiness, a sense of helplessness and meaningless life, as well as apathy, sleep disturbances and a constant feeling of fatigue.

Manic and obsessive-compulsive symptoms can be other psychiatric problems that patients with Huntington's disease may experience.

The symptoms of Huntington's disease usually develop gradually - it is not uncommon for the earliest symptoms to be unnoticed by the person or by those around them. The disease, however, is progressive and with the time that elapses from the onset of the disease, patients may experience more and more ailments, while those problems that have occurred from the beginning may increase in intensity.

Huntington's disease: diagnosis

Considering what the symptoms of Huntington's disease may be, we can immediately conclude that diagnosing this condition is not easy - in a person who is struggling with the aforementioned ailments, for example, depressive disorders may be suspected or any of the dementia disorders.

In general, a medical history is very important in the diagnosis of Huntington's disease - it is important to know what symptoms occurred and in what order they appeared, as well as whether their intensity increased over time.

The information that some members of the patient's family suffered from a similar type of ailments is very helpful in making the diagnosis.

Later, a neurological examination is carried out, in which it is possible to identify deviations related to the disease (such as, for example, excessive muscle stiffness or gait disturbance), sometimes in a doctor's office a specialist can observe the appearance of chorea in the patient.

Before making the final diagnosis, it is important to have the patient's head imaging (e.g., CT or MRI) to rule out other conditions that may lead to symptoms similar to those in Huntington's disease.

In fact, however, the final, certain diagnosis can be made only after genetic tests are carried out, in which the patient is found to have a genetic mutation characteristic for this individual.

Huntington's disease: treatment / h2>

Currently, Huntington's disease remains, unfortunately, an incurable disease - patients are offered symptomatic treatment aimed at reducing the intensity ofthe ailments they experience.

In the case of choreiform movements, their intensity may be reduced thanks to the use of preparations such as tetrabenazine, amantadine or agents belonging to the group of benzodiazepines and neuroleptics.

In the treatment of Huntington's disease, preparations typically used in patients with Parkinson's disease are also used, as well as - with a significant intensification of symptoms of mood disorders - antidepressants.

Regular rehabilitation is also extremely important, and in the presence of significant problems with speech, speech therapy exercises turn out to be valuable.

Symptomatic treatment is indeed the only treatment for Huntington's disease at the moment, but it is possible that patients will be offered other therapeutic interventions in the future.

Researchers are still working on treatments that could help patients with this unit - for example, research into stem cell therapy that could be introduced into the central nervous system of patients with Huntington's disease (these cells would replace those neurons that have degenerated due to the disease).

Huntington's disease: prognosis

Patients with Huntington's disease tend to experience more and more difficulties in their daily lives over time - due to movement disorders they may not be able to take up professional duties, and eventually it becomes more difficult for them to carry out their everyday activities. , home chores.

Usually, from the onset of the first symptoms of the disease, the patient's death takes about 20 years.

About the authorBow. Tomasz NęckiA graduate of medicine at the Medical University of Poznań. An admirer of the Polish sea (most willingly strolling along its shores with headphones in his ears), cats and books. In working with patients, he focuses on always listening to them and spending as much time as they need.

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Category:

Neurology