Huntington's Disease
What is the life expectancy of Huntington's disease? Information on its symptoms and treatments.
Symptoms and Causes
Huntington's disease causes degeneration of brain nerve cells that control movement. As a result, small spasms occur which, over time, lead to more significant involuntary movements. This is why it is also known as Huntington's chorea, as the term "chorea" refers to the sudden, irregular movements that usually occur in the hands or face but can affect other parts of the body.
This degenerative disease is hereditary and dominant, meaning that having just one copy of the gene is enough to develop it. Generally, it is detected between the ages of 30 and 50. The progression of the disease leads to an increase in abnormal and involuntary movements, as well as mental and physical deterioration, which ultimately results in premature death. In cases of juvenile Huntington's disease, where symptoms appear before the age of 20, the progression and outcome are often faster. In general, the time from the onset of symptoms to death ranges from 10 to 30 years.
Current treatments for Huntington's disease help control symptoms, facilitate patients' social integration, and improve quality of life. However, no therapies have yet been found to alleviate the physical, mental, and behavioral degeneration associated with this condition.
Symptoms
The most characteristic symptoms of Huntington's disease are:
- Involuntary spasms or movements
- Muscle stiffness
- Posture and gait disturbances
- Balance problems
- Difficulty speaking
- Dysphagia
- Cognitive decline: lack of impulse control, slowness in processing thoughts, learning difficulties, or lack of flexibility
- Psychiatric disorders such as insomnia, apathy, social isolation, sadness, suicidal thoughts, or obsessive-compulsive disorder
Causes
Huntington's chorea occurs due to degeneration of the basal ganglia, that is, neurons located at the base of the brain. This degeneration is caused by a genetic alteration inherited from a single mutated gene.
Risk Factors
The primary risk factor is if one of the parents has the disease or carries the Huntington gene. When one parent is a carrier, there is a 50% chance of developing the disease.
Complications
Huntington's disease significantly reduces the quality of life of those who suffer from it, as stiffness, involuntary movements, and muscle spasms make daily tasks difficult. Additionally, the degenerative nature of the disease increases the likelihood of affected individuals having suicidal tendencies. Increased difficulty swallowing, balance loss, and a higher susceptibility to infections often lead to death.
Prevention
There is no way to prevent Huntington's disease. As it is a genetic condition, carriers who wish to have children can opt for in vitro fertilization with healthy donor gametes or preimplantation genetic diagnosis to select only gametes that do not carry the Huntington gene.
What doctor treats Huntington's disease?
Huntington's disease is diagnosed and treated in the neurology clinic.
Diagnosis
The diagnosis of Huntington's chorea is based on a clinical evaluation of symptoms and genetic analysis. These tests are typically conducted predictively, before symptoms manifest, but with a family history of the disease.
In addition, neurological exams are conducted to assess strength, balance, and reflexes; neuropsychological analyses to evaluate reasoning and memory ability; and a psychiatric evaluation to assess the patient's mental health.
Treatment
Currently, there are no treatments to cure Huntington's disease. To alleviate symptoms and improve quality of life for a time, medications are used to control movements or improve the patient's psychological state. Additionally, physiotherapy helps improve both muscle tone and the ability to swallow and speak.
