Overview

People affected by Huntington's disease experience a gradual loss of functional abilities. They cannot control their movements and experience symptoms such as lack of mobility, difficulty eating or choking on food, a loss of sense of direction, and a decline in cognitive function. Genetic changes or environmental factors can influence disease onset, severity, and progression, such as altering how the brain responds to excess chemical signalling. Let’s understand more about it.

What is Huntington's Disease?

Huntington's Disease is a neurodegenerative disorder that affects movement and coordination. It is caused by a Huntington's disease gene or HDG. HDG is responsible for producing a protein that promotes the development of Huntington's disease.

Symptoms of Huntington's disease

Symptoms begin in middle age and get worse over time. It includes:

Early symptoms of Huntington’s disease include

- Hallucinations
- Psychosis
- Difficulty with balance and coordination
- Slurred speech
- Difficulty in making decisions
- Problems with memory and attention

As the disease progresses, it can cause

- Uncontrolled and Jerking movements (chorea)
- Difficulty with speech
- Confusion
- Walking and swallowing problems
- Cognition disability
- Changes in behaviour and personality

The symptoms affect different brain parts and can cause depression, irritability, and anger.

Causes of Huntington's Disease

The cause is a mutation in the huntingtin gene that leads to Huntington's disease. It is a single defective gene. Humans have 23 pairs of chromosomes, and this defective gene lies on chromosome 4.

Heredity is believed to be the likeliest cause of Huntington’s disease. A person’s risk of developing this condition increases if they have a parent who has the gene mutation that causes this disease. The gene is passed on in a pattern of autosomal dominant inheritance. This means that if one parent has the mutated gene, each of their children has a 50:50 chance of inheriting the gene mutation from them. Thus, if one parent with Huntington’s disease has three children, two of the three will likely inherit the gene and develop the disease.

Diagnosis of Huntington's Disease

Here are some necessary tests to diagnose Huntington's disease.

Neurological examination - This test helps doctors to diagnose the symptoms such as reflexes, balance, mood shifts, and sensory symptoms. Neuropsychological testing - This test helps doctors to check a patient's neuropsychological abilities, such as language skills, memory, reasoning skill, and mental agility. Psychiatric evaluation - In this test, psychiatrists examine patients based on factors such as their emotional state, coping skills, behaviour changes, and judgement skills. Brain-imaging and function tests - Several brain-imaging techniques can help identify the condition. These tests include Magnetic Resonance Imaging (MRI), PET, and CT scans.

- MRI - It produces detailed images of the brain by using a powerful magnetic field and radio waves. This method can show changes in the size and shape of the brain, as well as any damage or injury to it.
- PET - PET scans are also used to image the brain. PET scans can show changes in the level of chemicals in the brain, which can help to identify Huntington's disease.
- CT scan - A CT scan can help doctors diagnose Huntington's and track its progression.

Genetic testing - Huntington's disease can be identified through genetic testing. This test can help identify whether the person has the Huntington's disease gene and whether they are at risk for developing the disorder.

Treatment Options for Huntington's Disease

Treatment options include medications and therapies to relieve the symptoms.

Medications

Several medications are available to treat Huntington's disease, including antipsychotic drugs, antidepressants, and mood-stabilising drugs.

Therapies

It includes:

Psychotherapy - Psychotherapy helps patients share their experiences, thoughts, and feelings with other treatment group members. CBT helps patients learn and apply positive behavioural habits to improve their well-being. It is often successful in helping patients manage stress, anxiety, and depression. Speech therapy - Speech therapy can help people to improve their communication and language skills. It can also help improve the overall quality of life for people with Huntington's disease. Occupational therapy (OT) - OT can help individuals with HD learn new skills and regain mobility and strength. It can also help them manage stress and improve their social interactions.

When to Consult a Doctor

You can also get in touch with the expert Neurology doctors at Narayana Healthcare based in your city to get immediate attention and medical support during injuries, health disorders or any other health concern.

Conclusion

Huntington's disease is a severe genetic disorder that can affect those with a gene mutation or those carriers of that gene mutation. Family members need to understand how to manage the symptoms and what treatment options are available.

FAQs

Q. What is Huntington's disease? A. Huntington’s disease is a genetic disorder that affects nerve cells in the brain. It is the only known genetic cause of inherited movement disorders.

Q. What are the symptoms of Huntington's disease? A. Some common symptoms include:

- Uncontrolled movements
- Hallucinations
- Jerking movements (chorea)
- Walking and swallowing problems
- Changes in behaviour
- Psychosis

Q. How is Huntington's disease diagnosed? A. A neurologist or other specialist can diagnose Huntington's disease based on the following tests:

- Neurological examination
- Neuropsychological testing
- Psychiatric evaluation
- Brain-imaging and function tests such as MRI and CT scans
- Genetic testing

Q. What are the treatment options for Huntington's disease? A. Currently, no treatments or cures exist for Huntington’s disease, but medications and behavioural therapy can help manage symptoms.

Q. How does Huntington's disease affect overall health? A. HD is a severe disorder that can significantly impact overall health. Some of the health complications associated with HD include:

- Movement problems, such as difficulty walking and climbing stairs.
- Cognitive impairment, which can lead to problems with memory and thinking skills.
- Behavioural changes, such as aggression and dementia.

References

- https://www.narayanahealth.org/blog/addressing-movement-disorders-medications-and-deep-brain-stimulation/
- https://www.hopkinsmedicine.org/health/conditions-and-diseases/huntingtons-disease
- https://www.healthline.com/health/huntingtons-disease#treatments