Do you also have uncontrollable tremors? Do you forget things? Let's talk about Huntington's Disease!

Do you sometimes feel like your arms and legs are twitching in an unexplained way? Or do you feel like you're forgetting things you used to remember well? Or does someone you know have this problem? One possible cause of these things is a condition called Huntington's disease. Today, we'll talk about it in detail, in a very simple way. Don't be afraid, it's very important to be aware of this.

Do you know what Huntington's Disease is?

Simply put, Huntington's Disease is a genetic condition that is passed down through generations. It is a condition in which some of the cells in our brain are gradually damaged and lose their function. In particular, it affects the parts of the brain that control voluntary movements such as walking and shaking, and the parts of the brain that are involved in our memory .

The most common symptoms of this disease are uncontrolled movements such as jerking and shaking, and changes in our thinking, behavior, and personality . The sad thing is, these symptoms tend to get worse over time. But don't worry, being aware of this can help us prepare for a lot.

What are the main types of Huntington's Disease?

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. Early onset (juvenile) Huntington's disease: This is a very rare type. It affects young children and young adults.

How common is this disease? Who is most likely to get it?

Huntington's disease is found all over the world, but statistically, it affects about three to seven people out of every hundred thousand . It is especially common among people of European descent (meaning people with ancestry from Europe). But remember, it is a genetic condition, so anyone can develop it.

What are the symptoms we see in this disease?

Huntington's disease affects our body as well as our mind. Let's take a look at what these symptoms are.

Changes in the body (physical symptoms)

These are the main physical characteristics that can be seen:

• Uncontrolled movements such as shaking or twitching of the limbs: This is what we medically call chorea .
• Loss of balance : Difficulty walking or standing upright. This is called ataxia .
• Difficulty walking.
• Difficulty swallowing food or liquids: This is called dysphagia .
• Slurred speech.

These physical symptoms don't appear suddenly. They start with small things at first. Think about it, having trouble holding a pen properly, constantly dropping things, losing your balance. But over time, these symptoms can gradually increase.

Effects on the mind and emotions (psychological symptoms)

In addition to physical symptoms, someone with Huntington's disease may experience mental and behavioral changes such as:

• Changes in emotions: frequent anger, anxiety, sadness ( depression ), irritability.
• Difficulty with memory, attention, and multitasking.
• Difficulty learning new things.
• Difficulty making decisions and thinking logically.

At first, these physical and mental symptoms may not have much of an impact on your daily activities. However, over time, these symptoms can make it difficult to function independently.

What is this trembling of the limbs (Chorea) seen in Huntington's disease?

One of the first physical symptoms of Huntington's disease is a condition called chorea . This is when parts of the body move or twitch involuntarily and without our control. It usually first affects the hands, fingers, and facial muscles. Later, the arms, legs, and upper body also begin to move uncontrollably. Chorea can make it difficult to talk, eat, and walk. It can also affect everyday tasks like driving.

Why does Huntington's Disease occur? What is the cause?

The main cause of Huntington's disease is a change in our genes. To be precise, it is caused by a mutation in a gene called `HTT` . This `HTT` gene produces a protein called `Huntingtin protein` in our body. This protein helps our nerve cells `(Neurons)` to function properly.

However, a person with Huntington's disease doesn't have all the information in their DNA to make the huntingtin protein properly. As a result, the protein forms incorrectly, in an abnormal shape, and instead of helping our nerve cells , it starts to destroy them. This genetic mutation is what causes the nerve cells to die.

This loss of nerve cells occurs mainly in the part of our brain called the ``Basal Ganglia`` that controls movement , and in the ``Brain Cortex`` that controls our thinking, decision-making, and memory .

Is this a hereditary disease?

Yes, the genetic mutation that causes Huntington's disease can be inherited. If one of your biological parents has the genetic mutation, you are likely to inherit it too. This is called an autosomal dominant pattern of inheritance . In this case, if one parent has the disease, a child has a 50% chance of developing the disease. However, very rarely, someone can develop the disease through a new gene mutation, even if no one in the family has had the disease before.

Who is at higher risk of developing this disease?

Although anyone can develop Huntington's disease, you are at highest risk if someone in your biological family has the disease. As mentioned earlier, if one of your parents has Huntington's disease, you have a 50% chance of developing it too.

What are the possible complications of Huntington's Disease?

Huntington's disease is a progressive condition, meaning that symptoms gradually worsen over time . Complications that can occur include:

• Dementia : This means decreased brain function, memory loss, and major personality changes.
• Physical injuries due to uncontrolled movements or falls.
• Difficulty swallowing food can lead to the inability to eat and drink properly, resulting in malnutrition .
• Becoming unable to walk without assistance.
• Frequent infections, especially lung infections like pneumonia.

Children who develop Huntington's disease at a young age may also experience seizures .

How do you accurately diagnose this disease? (Diagnosis)

A doctor, especially a neurologist , can tell you for sure if you have Huntington's disease. He or she will examine you and look for signs of tremors, tremors, balance, reflexes, and coordination. They will also ask if anyone in your family has the disease. In most cases, a genetic test is needed to confirm the diagnosis.

To rule out other conditions that cause similar symptoms and confirm that it is Huntington's disease, the following tests are performed:

• Blood tests .
• Genetic Testing.
• Brain imaging tests: For example, `( MRI – Magnetic Resonance Imaging)` and `( CT scan – Computed Tomography scan)`.

What is genetic testing? How does it detect this?

A genetic test is a blood test that looks for changes in your DNA. Your doctor will take a blood sample from you and send it to a lab to test your DNA. This test can tell you for sure whether you have the HTT gene mutation mentioned above. A genetic counselor (a person who specializes in genetic testing) will explain the process and results to you.

Your doctor may also recommend that other family members get this genetic test. This will help assess their risk of developing the disease or having a child with the disease in the future.

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

Yes, you can. If one of your parents or siblings has Huntington's disease, you are at increased risk of developing it too. Predictive Genetic Testing can tell you whether you have the gene mutation that causes Huntington's disease before symptoms appear .

People react differently to this information. Knowing that you have the gene can help you plan your family and make financial decisions. However, it can also be emotionally difficult, especially since the disease cannot be prevented. Therefore, it is important to discuss with your genetic counselor whether it is best for you to get tested before symptoms appear.

What are the treatments for Huntington's Disease?

The main focus of treatment for Huntington's disease is to make you as comfortable as possible. There is currently no cure that can stop the disease, delay the onset of symptoms, or prevent it. Because the disease affects your physical, mental, and emotional health, you may need a variety of treatments. These include:

• Physical Therapy or Occupational Therapy.
• Speech Therapy.
• Counseling.
• Medications.

What medications are given to control symptoms?

Your doctor may prescribe different medications depending on your symptoms.

The medications commonly prescribed to control chorea (jerking) are:

• `Tetrabenazine`
• `Deutetrabenazine`
• `Haloperidol`

To control emotional symptoms (such as mood swings and depression), your doctor may prescribe medications such as:

• Antidepressants: For example, Fluoxetine and Sertraline.
• Antipsychotic medications: For example, Risperidone and Olanzapine.
• Mood-stabilizing medications: For example, lithium.

Important: All of these medications can cause some side effects. For example, you may experience muscle soreness after physical therapy, or you may experience fatigue or low blood pressure from medications for chorea. Your doctor will explain all of this to you before you start treatment, so you can make an informed decision.

Who is the medical team that will help you?

The medical team that helps you deal with this disease may include specialists such as:

• A doctor who specializes in the brain and nerves (Neurologist).
• A psychiatrist.
• Genetic Counselor.
• A physical therapist.
• Occupational Therapist.
• A speech therapist.

Is there a way to prevent this disease from developing?

There is currently no way to prevent or reduce the risk of developing Huntington's disease. However, if you are planning to start a family, talk to a genetic counselor and learn about genetic testing. This can help you understand your risk of having a child with the genetic disease. It is now possible to use IVF (In Vitro Fertilization) with genetic testing to prevent future children from inheriting Huntington's disease.

How does Huntington's Disease get worse over time? (Stages of the disease)

Huntington's disease is a condition that gradually worsens over time. While this can vary from person to person, it usually goes through the following stages:

• Early stage: Symptoms are mild. You may feel a little restless, clumsy, have difficulty thinking complex things, and may have small, uncontrolled movements. But you can usually carry out daily activities.
• Middle stage: Physical and mental changes make it very difficult to work, drive, and do household chores. Swallowing may be difficult, so talking and eating may be a challenge, but not impossible. There is a high risk of falling due to lack of balance. Personal tasks such as bathing and dressing can still be performed.
• End stage: It is very difficult to perform daily tasks on your own. Many people are unable to even get out of bed without help. At this stage, they need 24-hour care to eat, bathe, and take care of their health.

Is there a complete cure for this?

There is currently no cure for Huntington's disease. However, clinical trials ( tests in humans) are ongoing to learn more about the disease and see how new treatments can help.

How long can you usually live with this disease?

The average life expectancy after being diagnosed with Huntington's disease is between 10 and 30 years .

Is Huntington's Disease fatal?

Huntington's disease is not directly fatal. However, over time, the disease can make it difficult to perform daily activities. How quickly it gets worse varies from person to person. However, complications of the disease, such as pneumonia, or injuries from falls, can lead to death.

How can I live well with this condition? (Self-care)

Even when Huntington's disease is severe, there are things you can do to maintain the best quality of life possible. Here are some suggestions:

• Exercise regularly: Research has shown that exercise makes you feel better overall.
• Eat a healthy diet: Your doctor may recommend some changes to your diet. Uncontrolled movements can burn up to 5,000 calories a day. Therefore, a balanced diet is important.
• Drink plenty of water: When you have difficulty swallowing food, there is a risk of dehydration. Therefore, doctors advise staying hydrated.
• Find a support group: Ask your doctor about community resources where you can connect with others like you.
• Research care services: At some point, you may need home care services or nursing home care. Be aware of this in advance.
• Appoint a trusted advisor: As the disease progresses, you may need to delegate financial and decision-making responsibilities to someone else. This is a difficult but important decision to make. Organize your expectations before your symptoms make it difficult to make decisions.

Remember, while Huntington's disease cannot be prevented, you can plan for it. It can take years for symptoms to worsen. During that time, you have time to find trusted doctors and get the support you need for the future. If you or someone in your family has Huntington's disease, talk to a genetic counselor about what you need to know.

What questions should you ask your doctor?

You can ask the doctor questions like:

• What will my condition be like going forward? (Prognosis)
• What treatments do you recommend?
• What are the possible side effects of treatment?
• How can I avoid complications?
• How should I prepare for the end-stage of Huntington's disease?
• Would you recommend that the rest of my family also undergo genetic testing?

Huntington's disease can make it harder for you to take care of yourself over time. It can be overwhelming to learn that you or someone you love has the disease. However, because symptoms can take years to develop, you have time to prepare for full-time care and support. While you may need to make important long-term decisions about your health, you should not rush into making these decisions that will affect your future.

It can be easy to give up hope when you realize how this disease will affect you in the future. But you are not alone. Many people find comfort in talking to a mental health counselor or joining a support group. And research continues to learn more about treatment options that can help improve your quality of life.

Take-Home Message:

Okay, so, from what we've talked about, there are a few things you should definitely remember :

• Huntington's Disease is a genetic disease that damages brain cells.
• This causes uncontrolled movements (chorea) and mental changes .
• Although there is no complete cure for this, there are treatments to control symptoms and increase comfort.
• If you or someone in your family suspects you have this disease, it is very important to seek medical advice and genetic counseling.
• Although living with this disease can be challenging, with proper planning, support, and awareness, you can cope stronger. Research into new treatments is ongoing, so stay hopeful.

If you want to know more about this, don't be afraid to ask a doctor. Stay healthy!