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Huntington's disease (HD) is a genetic neurodegenerative disease that is caused by a change in a single gene (i.e., the HTT gene; the Huntingtin gene) located on chromosome 4. Each of us has this gene, but only those with changes in it are sick. This gene is responsible for the production of hantingtin, a protein that is very important for brain function. A change in this gene disrupts the production of hantingtin protein, leading to the loss of nerve cells in certain brain structures called the nuclei of the brain and cerebral cortex over time.


Patients have symptoms of a prodromal period such as delayed reaction and movement, impairment of cognitive function, and mental exhaustion. This leads to reduced working capacity, opportunity to participate in family and social life, leisure activities. Depressive symptoms have been reported to occasionally occur before clinical manifestations.


We can distinguish three main groups of symptoms: motor (involuntary movement, dystonia, bradykinesia), cognitive (cognitive) impairment and behavioral (character) changes.


HD severely impairs motor function. In the early period, restlessness, roughness, and later, slight involuntary movements of the face and limbs occur. At the onset of the disease, movement disorders are more noticeable when at rest (sitting or lying down). Later, involuntary movements increase in frequency and amplitude increases. Movements can occur on both sides of the body.
As the disease progresses, uncontrolled movements become more frequent and increasing, and the typical symptom of this disease is chorea. These are short, sudden, irregular movements of the limbs, face and tongue that tend to spread to adjacent parts of the body. Sometimes they are very intense, which can prevent a person from performing voluntary (voluntary) movements, maintaining balance and coordination. Sometimes sufferers fall and can be seriously injured.
In advanced stages of the disease, movement may be impaired and body and limb tangling, rigidity, akinesia, hypokinesia, dysarthria and dysphagia may occur.


Impairment of cognitive function often occurs early and progresses. Characteristic disorders of executive function, problem solving, attention, memory, language fluency, and comprehension. Gradually, intellectual changes are emerging. It becomes increasingly difficult for the patient to gain attention, memorize new knowledge, and deal with the usual tasks at work and at home. There is relatively little memory impairment, and less frequent speech disorders (aphasia, agnosia and apraxia). Dementia develops as the disease progresses.
Mental disorders in HL are common, very diverse, with a broad spectrum of symptoms. They are important because they occur before the onset of motor disorders and have a major influence on patient adaptation and functioning. Many of these can be successfully treated with medication.

- In the beginning problems arise when learning, it is difficult to memorize new information;
- difficulty in concentrating and completing work in progress;
- difficult to organize, plan, solve everyday problems;
- it is difficult to find the right words to express your thoughts;
- sufferers are more difficult to adapt to changing living conditions, tend to repeat the same actions, behave in stereotypical ways;
- in later stages, attacks of anger or aggression may occur, beyond which the person is in control, even though they subsequently feel guilty;
- inappropriate, unacceptable behavior in society occurs.

However, the most common mental disorder is depression. About 40% of them suffer from it. of all patients with HL. This is not just a reaction to the diagnosis of HL, and the message is that it is still incurable. It is a complex of symptoms resulting from physiological changes in the brain. Occasionally, its symptoms occur before the clinical manifestation of HL.

Depression is characterized by:
- sadness, feeling unhappy, apathy, increased irritability;
- psychomotor retardation or agitation;
- loss of interest;
- no one, even a past pleasant activity, gives satisfaction or delight;
- feeling of guilt and inferiority;
- social alienation, failure to do business as usual;
- feeling of hopelessness;
- frequent thoughts of death or suicide;
- insomnia or increased sleepiness;
- change in appetite;
- Feeling tired and lacking energy;
- difficulty in making decisions, distraction and impaired concentration of attention;
- decreased libido.

Depressive symptomatology may also be due to the effects of certain medications. HD patients with depression have a high risk of suicide (as impulse control is impaired) and treatment of depression is therefore essential. Treatment with antidepressants (SSRIs, SNRIs, etc.) prescribed by a psychiatrist, also a psychotherapeutic help is important.
An important symptom is apathy (lack of interest, motivation, desire). It may be one of the symptoms of depression, or it may appear as the disease progresses due to worsening dementia. In this case, the response to antidepressant treatment is less favorable.
Anxiety is not as common a symptom as others. It can manifest as generalized anxiety disorder or severe panic attacks. Treatment uses antidepressants (SSRIs) and benzodiazepines.
Obsessive compulsive disorder may also develop. These are repetitive, obsessive, unpleasant thoughts or compulsive, stereotypical actions (a person constantly repeats certain cyclic actions). Almost always anxiety and anxiety are present.
Patients with HD often develop perseverance as the disease progresses - due to poor cognitive function and memory impairment, the focus is on one idea or idea that is constantly being repeated.
Obsessive-compulsive disorder, hyperactivity, psychomotor agitation is diagnosed with mania (about 5%) or bipolar affective disorder, if not the first mood disorder in life.
Less often (about 25% of patients) develop psychotic symptoms, which may make the clinic similar to schizophrenia. Possible delusions and hallucinations. It is more commonly observed when the disease manifests at a young age. Treatment with neuroleptics (blocking dopamine receptors).
Mental disorders are a significant part of HL and have a huge impact on patient functioning. Recognizing and treating them on time is an important part of a comprehensive treatment.


Character changes occur relatively early in patients due to damage to the frontal part of the brain. Irritation, irritability, suspiciousness, anxiety, rapid mood swings, anger, quirky and eccentric behavior, jealousy, inappropriate sexual behavior or apathy are all symptoms of an organic personality disorder. Such changes in personality are permanent, making it very difficult to adapt socially and to help the patient himself. Symptoms are usually treated with neuroleptics, as well as antidepressants or mood stabilizers.
Impairment of cognitive function often occurs early and progresses. It is characterized by impairments in executive function, problem solving, attention, memory, language fluency, and comprehension.

Atnaujinta 2019-12-09
Straipsnis parodytas: 477 kartų(kartus)
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