Huntington's Disease

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Video: Huntington's Disease

Video: Huntington's Disease
Video: Living with Huntington's disease 2024, March
Huntington's Disease
Huntington's Disease
Anonim

Huntington's disease, also known as Huntington's chorea, is a neurodegenerative disease that has a genetic nature. The disease severely damages nerve cells in the brain and affects a very large chat of body functions.

Huntington's disease is due to an inherited genetic defect in one of the DNA genes. They are transmitted in an autosomal dominant manner, which means that a child of a sick parent is at 50% higher risk of developing the disease.

Gender doesn't matter, from Huntington both men and women are ill. If the disease appears in early childhood, it has faster progression and severe complications.

The rare genetic disease got its name from the physician George Huntington, who in 1872 published the first scientific paper on the disease, which he then called hereditary chorea. Although mentioned only in 1872, the disease has been known since the Middle Ages and is believed to date back to antiquity.

According to the Bulgarian Huntington Association, there are still no official databases in our country about how common the disease is in our country.

Internationally, the incidence is 2.7 per 100,000, but in Europe, Australia and the United States it has risen to 5.7. It is expected that between 400 and 500 people in our country will suffer from this disease.

Symptoms of Huntington's disease

The first symptoms of Huntington's disease they most often appear between the ages of 35 and 44, but it is quite possible for them to appear at any stage of life. At the beginning, slight changes in movement, thinking and behavior begin, but they are too insignificant to suspect the disease.

The first manifestations are accidental involuntary movements, which gradually progress. Other symptoms include difficulty swallowing, speech problems, impaired gait, difficulty maintaining balance, and muscle stiffness.

The mental disorders that Huntington's disease causes include difficulty remembering new information, short-term memory problems, difficulty concentrating, difficulty starting a conversation, or having new activities.

Huntington
Huntington

The third group of symptoms that are characteristic of the disease are psychiatric disorders. These disorders are most often expressed in depression. Depression is due to damage to brain structures.

Other symptoms include low libido, frequent and obsessive thoughts of suicide or death, excessive drowsiness or insomnia, isolation and unwillingness to interact with others.

Diagnosis of Huntington's disease

Diagnosing Huntington's disease is no easy task. It is necessary to carry out a thorough examination and to appoint a number of tests.

The most important part of the diagnosis is an examination by a neurologist, in which the specialist assesses the patient's reflexes, vision, hearing, sense of coordination, muscle tone. During the examination it is established whether there are any injuries and what exactly they are.

However, the examination is not completely sufficient to make a diagnosis. For a more accurate assessment, tests such as magnetic resonance imaging and electroencephalogram are performed. When all symptoms and results refer the specialist to Huntington, a genetic test should be performed to look for the defective gene in the DNA that causes the disease.

Treatment of Huntington's disease

Unfortunately, despite the great advances in medicine Huntington's disease remains an incurable disease. As the disease progresses, the patient's ability to take care of himself decreases, which means that relatives have to take care of him. However, the only drug that only treats the symptoms is Tetrabenazine.

Due to the lack of treatment and the progressive nature of Huntington's disease, the outcome was fatal. After diagnosis, the average duration is about 15 years. Progression of the disease leads to heart failure, pneumonia or respiratory arrest.

However, if the disease manifests itself in childhood, the progression is much faster and the survival is shorter. This form of Huntington's disease is called juvenile.

The gene responsible for Huntington's development was discovered in 1993, allowing scientists to work to find a cure for the insidious disease.

The article is informative and does not replace a consultation with a doctor!

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