What is Huntington's Disease? Let's talk about it simply.

Have you ever noticed that someone in your family, maybe your mother or father, or someone you know, suddenly loses control of their limbs? You may have noticed things like small tremors, sometimes just stumbling, things falling on the floor, or having difficulty controlling emotions like anger and sadness. Although these things may seem like small things on the outside, the reason behind them can sometimes be serious. Today we are going to talk about a disease that causes similar symptoms, but which many people in our country have not heard of. That is Huntington's Disease.

Simply put, what is Huntington's Disease?

Huntington's disease is a genetic condition that affects the brain, especially the nerve cells. It affects the parts of the brain that control movement and memory.

Think of our body as a computer. The brain is its main control center. When this disease develops, some of the programs in that control center go haywire. Then things like body movements, emotions, and thinking start to go haywire. Over time, these symptoms gradually increase, not decrease.

Are there any variants of this disease?

Yes, there are two main types of Huntington's disease.

1. Adult onset: This is the most common type. Symptoms usually begin to appear after the age of 30.

2. Juvenile Huntington's disease: This is a very rare type. It affects children and young adults.

What are the symptoms of Huntington's disease?

This disease affects our body as well as our mind. Therefore, the symptoms can be divided into two main categories. Let's look at them in this way to make them easier to understand.

In the early stages, these symptoms may not be noticeable. They may start with something as simple as holding a pen or stumbling. But over time, these symptoms can become progressively worse, making it impossible to perform daily tasks on your own.

Why does this disease occur? What is the cause?

The main cause of Huntington's disease is a genetic mutation. Simply put, it is caused by a change in the gene called `HTT` in our body.

This `HTT` gene makes a protein called `huntingtin`. This protein helps the nerve cells (neurons) in our brains to function properly.

However, because a person with Huntington's disease has a defect in the `HTT` gene, the `huntingtin` protein it produces is also faulty. Instead of helping nerve cells, that faulty protein starts to destroy them. When brain cells die in this way, the aforementioned symptoms appear.

Is this a hereditary disease?

Yes. This is definitely a hereditary disease. In medicine, we call this an ``autosomal dominant`` pattern of inheritance. This simply means:

Very rarely, someone can develop the disease without anyone in their family having the disease due to a new genetic mutation. But that happens very rarely.

How does a doctor diagnose this disease?

If you have these symptoms, the first thing you should do is see a doctor. He or she will likely refer you to a neurologist.

Several tests are performed to diagnose the disease.

• Physical and neurological examination: The doctor will carefully check your body movements, balance, and reflexes.
• Family medical history: You will be asked if anyone in your family has had this disease. This is very important.
• Genetic testing: This is the most important test to confirm the disease. This involves taking a sample of your blood and testing its DNA for the HTT gene defect.
• Brain scans: Scans such as magnetic resonance imaging (MRI) and computed tomography (CT) scans may also be done to see if there are any changes in the brain.

Is it possible to know if you have this before symptoms appear?

Yes, you can. If someone in your family (mother, father, sibling) has the disease, a genetic test can find out if you also inherit the gene before symptoms appear . This is called ``predictive genetic testing''.

But this is a very sensitive decision.

• Advantages: Knowing that you may develop this disease in the future can help you with family planning and financial planning.
• Disadvantages: Also, it can be very difficult mentally to learn that you have an incurable disease.

Is there a treatment for this?

This is the saddest thing to hear. There is currently no treatment to completely cure Huntington's disease, stop the disease from occurring, or stop the symptoms from getting worse.

But, don't worry. There are many treatments that can help control symptoms and help the patient live as comfortably as possible.

• Physical therapy or occupational therapy: These treatments help improve the body's balance, muscle strength, and make daily tasks easier.
• Speech therapy: Helps with speech and swallowing difficulties.
• Counseling: Counseling is very important to deal with situations such as stress and depression caused by the disease.
• Medications: Your doctor may prescribe various medications to control your symptoms. For example:
• Medicines like ``Tetrabenazine'' and ``Deutetrabenazine'' are used to control body tremors (chorea).
• Medications like antidepressants and antipsychotic medications for depression and mental disorders.

How does the disease worsen over time?

Huntington's disease is a progressive disease that usually progresses through three stages.

Is this disease fatal?

Huntington's disease does not directly cause death. However, complications of the disease can cause death. For example:

• Difficulty swallowing can cause food/drink to get stuck in the airway , causing infections such as pneumonia .
• Serious injuries caused by frequent falls .

Once diagnosed, the average lifespan is between 10 and 30 years . This time varies from person to person.

What can you do while living with the disease?

Although this disease cannot be prevented, there are many things that can be done to maintain a good quality of life while living with the disease.

• Exercise regularly: Research has shown that exercise can help you stay physically and mentally healthy.
• Get good nutrition: Bodybuilding can burn up to 5,000 calories a day. Therefore, it is important to consult a nutritionist and eat a good diet.
• Drink plenty of water: Difficulty swallowing can lead to dehydration. Therefore, it is important to drink the required amount of water throughout the day.
• Join a support group: Talking to other people with this disease and their families is a great source of mental strength.
• Plan for the future: Research in advance the care you will need (home care services, nursing homes) if your illness worsens. Appoint someone you trust to take care of your financial and legal affairs.

It's normal to feel sad and shocked when you learn about this disease. But you're not alone. Doctors, therapists, counselors, and your family are there to help you.