Huntington ‘s Chorea

Huntington’s chorea is a chronic progressive genetic disease, which is characterized mainly by disruption of the nervous system, increasing choreic hyperkinesis and gradual dementia of the patient.

The content of the article:
Etiology and pathogenesis of Huntington’s chorea
Clinical picture of Huntington’s chorea
Diagnosis of Huntington’s chorea
Treatment of Huntington’s chorea
Prognosis for Huntington’s chorea
Prevention of Huntington’s chorea
Huntington ‘s Chorea
In the literature , you can also find the names:

Huntington’s chorea (disease);
Huntington’s disease;
chorea is progressive chronic;
chorea is hereditary;
chorea is degenerative;
dementia is choreic.
Etiology and pathogenesis of Huntington’s chorea
Huntington’s chorea refers to hereditary diseases with an autosomal dominant type of inheritance. It is most often observed in men aged 30-50 years, the risk of manifestation of this disease in a child whose parent is ill is more than 50%. The pathogenesis of Huntington’s disease is poorly understood, but it is known that the root cause of its occurrence is a mutation of a gene on the fourth chromosome, as a result of which the synthesis of the huntingtin protein is disrupted, its coding occurs. The structure of this protein is repetitive triplets of amino acid chains (cytosine-adenine-guanine), due to a mutation of the gene, an increase in the number of triplets occurs, an elongation of the amino acid chain. The huntingtin protein changes its information by connecting with other proteins, the interaction between them changes. This leads to the death of neurons in one of the brain departments, damage to the striatum (“striatum”), as well as the cerebral cortex.

Clinical picture of Huntington’s chorea
The first symptoms of Gengtington’s chorea are movement coordination disorders and disorders of the nervous system. A person becomes restless, awkward, fussy, distracted, irritable, depressed. As the disease develops, choreic hyperkinesis will be more noticeable — involuntary chaotic, rapid contractions in various muscle groups, such as facial muscles, limb muscles. In the early stages, the patient can suppress these involuntary movements, but over time is no longer able to control them. Voluntary movements are difficult, due to the occurrence of involuntary ones, sometimes convulsions appear. The gait is unstable, sometimes slows down and looks bouncing or dancing. Facial expressions seem to be deliberate antics and grimacing. The patient’s head and neck may twitch. The speech apparatus is also subject to hyperkinesis, which manifests itself in disorders of speech function, slowness, difficulties in sound production, the appearance of involuntary sounds and movements of the speech apparatus. Eye movement disorder is not uncommon, which often leads to nystagmus. With the development of the disease, hyperkinesis increases and worsens, as a result, the patient is unable to serve himself, eat independently, move around, so he is confined to a wheelchair or bed.

Neurological and mental manifestations of the disease are also progressing. Patients have a deterioration in memory, thinking ability, spatial orientation, attentiveness, which entails intellectual regression and subsequently dementia (dementia). Patients with Huntington’s chorea have problems sleeping, they are prone to mental disorders: depression, apathy, panic attacks, suicidal tendencies. There is often an increase in bad habits, hypersexuality manifests itself. In the later stages of the disease, various hallucinations (visual, auditory, olfactory) are observed.

There are two main types of Genington’s chorea: the classical (hyperkinetic form) manifests itself in an adult patient aged 30-50 years, progresses rather slowly, and the Westphalian variant (juvenile form) manifests itself in children and adolescents under 20 years of age, occurs in 7-10% of cases, has a more rapid and severe course. Extremely rare is the psychopathological form of Huntington’s chorea, which is characterized mainly by mental disorders.

Diagnosis of Huntington’s chorea
When diagnosing Huntington’s chorea, the doctor is primarily based on a family history, physical examination and analysis of the neurological condition of the patient. If suspected, laboratory and instrumental examinations are prescribed, without which it is impossible to make a diagnosis.

The main types of examinations in the diagnosis of Huntington’s chorea:

genetic research, DNA test;
electroencephalography;
computed tomography (CT) of the brain;
magnetic resonance imaging (MRI);
Positron emission tomography (PET);
biochemical blood analysis;
intrauterine genetic examination of the fetus.
Treatment of Huntington’s chorea
At the moment, Huntington’s chorea is considered an incurable disease. Modern medicine can deal with it exclusively symptomatically: slow down the progression of the disease, reduce the manifestation of choreic hyperkinesis, preserve the mental health of the patient as much as possible.

Prognosis for Huntington’s chorea
The prognosis for this disease is unfavorable. The disease is steadily progressing and in the last stages the patient becomes completely helpless. The duration of Huntington’s chorea is on average 10-15 years. Huntington’s disease often causes complications, such as: cachexia, pneumonia, heart failure, which in most cases leads to the death of the patient, and cases of suicide among patients are often found.

Prevention of Huntington’s chorea
Prevention of Huntington’s chorea can be considered a survey of the patient’s relatives, also patients are not recommended to have children, since the probability that the child will inherit the disease is very high.

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