Huntington’s disease is a rare inherited disorder that causes progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a widespread impact on a person’s functional abilities and usually results in motor, thinking (cognitive) and mental disorders.
Symptoms of Huntington’s disease can develop at any age, but often first appear when people are in their 30s or 40s. If the disease develops before age 20, it is called juvenile Huntington’s disease. When Huntington’s disease develops early, the symptoms are slightly different and the disease may progress more quickly.
There are medications to help manage the symptoms of Huntington’s disease. But treatments cannot prevent the physical, mental, and behavioral deterioration associated with the disease.
Symptoms of Huntington’s disease
1. Movement disorders associated with Huntington’s disease may include:
- Involuntary movements (chorea);
- Muscle rigidity;
- Eye problems such as slow or unusual movements;
- Gait and balance disturbances;
- Difficulties with speech and swallowing.
These disorders impair the ability to perform daily tasks, resulting in decreased patient independence.
2. Cognitive impairment may manifest itself:
- Difficulties with organization and prioritization;
- Problems with concentration;
- Lack of flexibility in decision making;
- Impaired memory and perception of new information;
- Problems with impulsive behavior and control of emotions.
These changes may affect the patient’s ability to perform complex tasks, participate in social life, and work.
3. Mental disorders often accompany Huntington’s disease. The most common is depression, which occurs due to damage to the brain and its functions. Also occurring:
- Obsessive-compulsive disorder (compulsive thoughts and actions);
- Mania (hyperactivity, impulsive behavior, inflated self-esteem);
- Bipolar disorder (episodes of depression and mania).
In addition, patients often experience weight loss, especially as the disease progresses, which may be related to both swallowing problems and metabolic changes.
Causes of Huntington’s disease
Huntington’s disease is caused by a change in a gene that is located on the fourth chromosome. This change causes the body to produce an abnormal protein called gentingtin, which contains too much glutamine (one of the amino acids). Although the exact role of this protein in the body is not entirely clear, it is known that its abnormal form damages brain cells, causing their gradual death.
Treatment of Huntington’s disease
To date, no specific treatment has been developed. Symptomatic treatment by a neurologist is indicated. Drugs that reduce the activity of the dopaminergic systems of the brain are prescribed. The dose of the drug is increased every 2-3 days. The efficacy of stereotactic surgeries for the treatment of Huntington’s chorea has not been proven.
Prognosis and prevention
The prognosis for Huntington’s disease is usually unfavorable. Death occurs 10 to 15 years after the first symptoms of the disease, often due to complications such as pneumonia, congestive heart failure, or infections. The life expectancy of patients ranges from 45 to 55 years, depending on the severity of the disease.
In terms of prevention, there are currently no methods that can prevent the development of the disease. Genetic tests can identify carriers of the pathogenic gene before symptoms appear, but the results of such tests can be difficult to understand. Families who have already been diagnosed with a case of Huntington’s disease are advised to consult a geneticist to assess the risk of future transmission.
Patients and their families are advised to be aware that Huntington’s disease is an inherited condition and this may influence their decisions about whether to have children, as the risk of transmission may be 50% for each child.
Supportive therapy and patient care
Since Huntington’s disease is a progressive disease, supportive therapy plays a key role in improving the quality of life of patients. Comprehensive care includes not only medication, but also psychological support and rehabilitation programs.
- Physiotherapy and occupational therapy: These methods are aimed at keeping the patient moving, improving balance and coordination. Occupational therapists help develop skills that allow patients to perform daily tasks, such as dressing or eating, despite declining motor function.
- Psychological support: Because mental disorders such as depression and anxiety often accompany the disease, it is important to provide psychological support. Family and individual counseling can help patients and their loved ones cope with the emotional difficulties caused by the disease.
- Nutrition and weight management: Because of swallowing and weight loss problems, patients with Huntington’s disease need a special diet. The doctor may recommend additional supplements or medications to maintain a normal weight, as well as monitor the digestive system.
Research perspectives and new approaches to treatment
Despite the lack of specific treatments, research continues and scientists are working to develop new therapies. In recent years, gene therapy approaches that aim to correct a gene mutation or block the abnormal activity of the Gentingtin protein have been actively developed. Although these methods are still in the experimental stage, they offer new perspectives for the treatment of the disease in the future.
Research on neuroprotection – protecting nerve cells from destruction – is also an important area of research. Studies show that certain drugs and compounds can slow or prevent the progression of neurodegenerative diseases, and scientists hope that these approaches will be applicable to the treatment of Huntington’s disease.
Conclusion
Huntington’s disease remains an incurable condition, but thanks to modern medical advances, symptom management and support for patients with the disease are becoming more effective. With advances in science and technology, an effective means to slow or stop the progression of the disease may be found in the future. It is important to continue research and increase support for patients and their families to improve quality of life and help fight this complex disease.
