Huntington S Disease, Huntington S Chorea

Huntington's Disease, Huntington's Chorea

Huntington's Disease, also known as Huntington's Chorea, is an inherited disease resulting from a single gene defect that is inherited in an autosomal dominant pattern. This means that the descendants of a person with a defective gene will develop the disease in approximately 50% of cases.

Symptoms of Huntington's disease usually begin in middle age. These include involuntary jerks (trochaic movements), personality changes, and progressive dementia.

Currently, it has been possible to identify a defective gene located on chromosome 4. This has made it possible to develop genetic screening, which can be used to identify people at risk of transmitting the disease to offspring. At the moment there is no treatment, but active research is being conducted in this direction.

Hunting's disease is an inherited neuropsychiatric disorder that is characterized by progressive symptoms such as motor inactivity, behavioral disturbances, anxiety, and psychiatric disorders. The disease is caused by a mutation in a gene called the Hunting gene, which is found on the X chromosome. The disease affects men and women equally, but women usually develop symptoms later than men.

Symptoms of the disease manifest themselves in various ways, one of which is chorea, when the patient begins to move his limbs and head chaotically. In addition, patients may experience mental and behavioral symptoms such as

Today we will talk about Huntington's disease, also known as Huntingson's disease or Huntingston's chorea. This is a serious disease that affects the brain and affects a person’s motor activity. This disease is genetically hereditary, so all people who are not carriers of this gene are not at risk of getting the disease.

Huntington's disease is a severe neurological pathology. Distributed on the African continent, in Europe, Japan, and also in America. It is especially common among descendants of mixed marriages. It cannot be isolated as a separate disease, since it is a single gene disease.

The pathology begins with the disintegration of the tunica albuginea, before which thinning of the nuclei and alternation of cell masses and voids are observed, but the tunica albuginea is still preserved. Spongiosis occurs closer to the center of the nucleus. Subsequently, the core is filled with microvilli, which are later compacted with fibrous structures, and the core turns into a vesicle. As a result of these changes, the nucleus becomes similar to a dense spherical shape, a flattened drop of protein, although its shape resembles a spherical kidney. In this case, enzyme secretion is observed and more cerebrospinal fluid accumulates.

Show your first symptoms during adolescence, when puberty begins, or middle age. Early symptoms include changes in the way you move, twitching of small muscles in the face and neck, unusual facial expressions, personality changes, cognitive abnormalities, gradual deterioration of speech and movement, and memory problems. However, each person may manifest the disease differently, and symptoms may change throughout life.

Nowadays, genetic mutation research has identified carriers of the Hhdn gene that give rise to the disease, allowing us to more accurately determine how the disease is transmitted. The study can help patients determine the risk of the disease in their immediate family and can help create recommendations for preventing the development of the disease.

Huntington's Disease, also known as Huntington's Chorea, is an inherited disease caused by a defect in a single gene that is inherited in a dominant manner. This means that if one parent has a defective gene, each of their children has a 50% chance of inheriting the gene and developing the disease.

Symptoms of Huntington's disease begin to appear in middle age, usually between 30 and 50 years of age. The main symptom of the disease is involuntary muscle twitching, known as chorea. Chorea can manifest as unpredictable and abnormal movements of various parts of the body, including the face, arms and legs. Over time, these movements become more pronounced and awkward, making it difficult to perform normal daily tasks.

In addition to chorea, Huntington's disease is also accompanied by changes in the patient's behavior and mental state. People with this condition may experience problems with concentration and cognitive functions such as memory, thinking, and assessing situations. Progressive dementia gradually sets in, eventually leading to severe problems with memory, speech, and understanding of the world around you.

Research has identified the defective gene responsible for Huntington's disease. This gene is located on chromosome 4 and contains an abnormally repeated sequence of nucleotides known as a CAG triplet repeat. In healthy people, this sequence typically repeats 10 to 35 times, while in people with Huntington's disease the number of repetitions exceeds 40. Longer repetitions are associated with earlier onset of symptoms and more severe disease.

The identification of the defective gene has become the basis for genetic screening, which helps identify people who are at risk of passing the gene on to their children. This makes it possible to provide genetic counseling and take steps to manage the risk of disease transmission to the next generation. In addition, research continues to identify potential therapeutic approaches and develop drugs to treat and slow the progression of Huntington's disease.

Huntington's disease is a serious and devastating disease that affects the quality of life of patients and their families. Social service support, psychological support and rehabilitation activities play an important role in providing dignified care and reducing the negative impact of the disease on patients.

In conclusion, Huntington's disease, or Huntington's chorea, is an inherited disease caused by a gene defect and characterized by chorea, behavioral changes and progressive dementia. Identification of the defective gene allows genetic screening and measures to be taken to manage the risk of transmitting the disease to the next generation. Continued research is needed to develop effective treatments and support for patients suffering from this serious disease.