Huntington’s chorea in adults

Huntington’s chorea is a serious disease that affects young people aged 20 to 40 years, occurs with a frequency of one case per 10 thousand of the population, leads to severe consequences.

What is Huntington’s chorea

“According to the modern definition, Huntington’s disease is a chronic, gradually progressive hereditary autosomal dominant disease of the nervous system,” says neurologist Valentina Kuzmina. – The disease is manifested by impaired speech, memory disorders and the presence of obsessive frilly movements (a person takes ridiculous postures, twitches, grimaces). Over time, it leads to disability, a fairly young person needs constant care and supervision from others. Unfortunately, while the disease is incurable, although there are attempts to treat it, new methods are constantly being tested.

Causes of Huntington’s chorea in adults

This is a pathology that is inherited from parents if they pass on defective genes to the child, moreover, they themselves do not get sick.

Neurologist Valentina Kuzmina explains: Huntington’s disease is inherited in an autosomal dominant manner, that is, even if a child has inherited one gene, it will manifest itself and give rise to the disease. The prevalence of this disease is 4-8 cases per 100 population. The reason is that the genetic defect in Huntington’s disease prematurely causes the death of certain populations of neurons in the extrapyramidal pathways of the CNS.

Due to a defect in the genes, the nervous system becomes very fragile, vulnerable, its cells, reaching a certain age, begin to die and do not recover. The extrapyramidal system, which is responsible for our voluntary and involuntary movements, especially suffers, helps us keep our posture, coordinate our actions, and regulate muscle tone.

Signs of Huntington’s chorea in adults

– The disease usually manifests itself in the 3rd – 5th decade of life, – clarifies neurologist Valentina Kuzmina. – Initially, it makes itself felt with barely noticeable signs, but gradually manifests itself in the form of generalized choreic hyperkinesis, namely:

• the presence of obsessive artsy movements;
• speech disorder;
• memory impairment;
• emotional and personality disorders.

Chorea usually begins in the face or distal extremities (fingers or toes), then gradually spreads and interferes with voluntary movements. Patients cannot hold their tongue out for a long time or clench the hand in a fist. The gait becomes unstable, “dancing”, slow and tense. Speech – difficult to understand, fuzzy, blurry.

Later, dysphagia (impaired swallowing of food and water) develops, which causes aspiration (choking and food entering the bronchi), leading to suffocation and pneumonia. There is also urinary incontinence.

The ability of the gene to express itself is close to 100% – by the age of 70, the disease manifests itself in almost all its carriers. Such patients receive a disability.

Treatment of Huntington’s chorea in adults

To start treatment of chorea in a timely manner, it is necessary to identify it as early as possible. Today there are experimental treatment groups that can help patients who cannot yet be completely cured by traditional methods.

Diagnostics

The basis for the diagnosis of chorea is the detection on MRI or CT of atrophic phenomena in the area of ​​certain areas of the nervous system (caudate nuclei). Gradually, these changes become stronger.

The diagnosis can also be confirmed with molecular genetic tests. PCR detects defects in the specific HD gene.

Modern treatments

For depression, respectively, prescribe tricyclic antidepressants, selective serotonin reuptake inhibitors. With outbreaks of aggression – antipsychotics. Rehabilitation will help to expand the functional abilities of patients.

Improving the functional capabilities and social adaptation of such patients is a priority for the doctor.

Prevention of Huntington’s chorea in an adult at home

“At present,” he says. neurologist Valentina Kuzmina, – rehabilitation is applicable using a comprehensive program of therapeutic measures with training of relatives by a team of specialists: an exercise therapy doctor, a physiotherapist, a speech therapist, a clinical psychologist and a neurologist.

Since Huntington’s chorea is a hereditary disease, prenatal diagnosis or pre-implantation genetic testing of embryos (PGT-M), that is, medical genetic counseling of the family, can be offered as a preventive measure.

Popular questions and answers

We discussed the possible consequences of chorea, its complications and possible self-treatment with neurologist Valentina Kuzmina.