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

We inherit not only our looks and talents from our parents, but sometimes we can also inherit diseases. Huntington's disease is a serious condition that affects the nerve cells in the brain and is passed down from generation to generation . You may feel scared when you hear this name, but it is very important to be aware of it. So today, let's talk about it in a simple and understandable way.

What exactly is Huntington's Disease?

Simply put, Huntington's disease is a genetic disease that is passed down from generation to generation. It causes the nerve cells in the brain to gradually die. Over time, this can lead to changes in our motor skills, cognition, and even mood. This can increase the risk of developing mental health problems like depression and anxiety.

Although the disease can begin at any age, symptoms most often appear between the ages of 30 and 40. However, if the disease begins in childhood, or before the age of 20, it is called juvenile Huntington's disease (JHD).

It's normal to feel overwhelmed when you learn about a disease like this. However, getting help from a social worker, a counselor, or a support group of people who are living with the disease can be a great help in coping with this situation. With the help of a multidisciplinary team of medical professionals, even someone with Huntington's disease can live independently for many years.

What causes this disease?

The main reason for this is a genetic defect. Imagine that a set of instructions for every function in our body, like a recipe, is written in our genes. We all have the gene that causes Huntington's disease (HD gene). But in some families, a defective, mutated copy of this gene is inherited from parents to children.

If your mother or father has the disease, you have a 50% chance of inheriting the defective gene and developing the disease. That means you may or may not get it. It's like flipping a coin.

It is important to know a few more things about this:

• This defective gene can be inherited by both men and women.
• If you don't inherit the defective gene, you will never develop Huntington's disease, and you will not pass the disease on to your children.
• This disease does not skip generations . That is, there is no way a child can develop it if the grandfather had it but not the father.

If you or someone in your family is considering genetic testing to see if you have this condition, it is important to meet with a genetic counselor beforehand. They can help you understand the implications of the test results and help you prepare for them.

What are the symptoms of this disease?

The symptoms of Huntington's disease can be divided into three main categories: motor skills, cognitive function, and behavioral changes. Many people with the disease experience symptoms in all three areas. These symptoms usually appear depending on the stage of the disease.

Symptoms of Huntington's disease (JHD) in young children

If a child or young person develops this disease, it can progress rapidly. There are several distinct symptoms that can be seen:

• Stiffness and difficulty walking
• Difficulty concentrating
• Sudden absence from school work
• Tremors
• Seizures

How to diagnose the disease?

The sooner the disease is diagnosed, the longer you can maintain your quality of life. If you have symptoms, your doctor will ask about your family medical history and perform a physical exam. In addition, they will perform several tests related to the nervous system.

• Reflexes
• Muscle strength
• Body balance
• Sight and hearing
• Memory and thinking ability

Above all, the best way to definitively confirm the disease is through a genetic test . This can tell you for sure whether you have the defective HD gene in your body or not.

How is it treated and managed?

Although there is no cure for this disease, there are many treatments that can help control the symptoms and make life easier. There is a saying among doctors that says, "We may not add years to your life, but we can add life to your years." It is true. The most important thing is to have specialists from different fields work together to treat you.

Medications

The doctor may prescribe various medications to control symptoms.

• For movement control: A class of drugs called `VMAT2 inhibitors` (e.g. Deutetrabenazine, Tetrabenazine) are used to reduce uncontrolled movements such as `Chorea`.
• For mental health problems: Antidepressants and mood stabilizers are prescribed to treat conditions such as depression and anxiety.

Therapy

These are a very important part of disease management.

• Physical therapy: Helps reduce falls by improving gait and balance.
• Occupational therapy: Teaches techniques and equipment needed to continue daily activities (dressing, eating).
• Speech therapy: Helps with speech and swallowing difficulties.

Nutrition and lifestyle changes

Huntington's patients are more likely to lose weight. This is because the body burns more calories due to normal movement and difficulty swallowing food. Therefore, it is very important to eat high-calorie, nutritious, and easily digestible foods, as advised by a dietitian .

In addition, exercising, adopting a Mediterranean diet, avoiding alcohol, getting good sleep, and reducing stress are also very helpful in managing the disease.

Huntington's Disease, Genetic Diseases, Inherited Diseases, Brain Diseases, Neurological Diseases, Chorea, Genetic Testing