What Causes Huntington's Disease?

Diseases of the brain can be fascinating and scary for many. Brains control all other organs in the body and are often delicate, so a lack of brain functioning can feel like a loss of control of the self. A minor amount of damage to the brain can change your personality or hinder how your body functions. One rare brain disease that can cause these changes is Huntington's Disease (HD), an inherited degenerative brain disease that causes the brain cells to break down over time.

What is Huntington's disease?

Huntington's disease causes the neurons in various parts of the brain to die over time. The condition most frequently develops in middle age, but it can also appear earlier or later in life. Juvenile Huntington's Disease (JHD) can develop before your 20s, and Huntington's disease often becomes noticeable after age 40. 

What causes Huntington's disease? 

Huntington's disease is inherited and caused by the mutated HTT gene, which instructs the brain to make a protein named huntingtin. Huntingtin sustains the function of brain cells and helps contribute to their functions. It's also found in bodily tissue, but its most extensive occurrence is in the brain.

While the exact function of huntingtin is not confirmed certain, experts believe huntingtin is essential to the well-being of nerve cells. If there is a mutation in the HTT gene, which helps to provide huntingtin, it can damage the nerve cells and cause them to break down. Huntingtin may also prevent brain cells from self-destructing, which may be why HD occurs. 

If one of your parents has HD, there is a 50% chance you may also have it. Because HD often occurs later in life, those with it may have had children before knowing they have the disease, potentially passing it on to them. However, those who know they have it or have a high chance of having it may try to reproduce without passing the mutated gene on to their children.

Genetic counseling can tell parents about their chances of spreading HD to their children. At times, the chances may be low. However, if it is high and you don't want to risk the transference, you might try adopting or going through alternative reproduction methods that don't involve passing on HD. 

Another option is preimplantation genetic diagnosis, which is expensive and potentially controversial. In this process, doctors use the eggs and sperm of those looking to conceive to create a few embryos. They monitor the embryos as they develop for the mutated gene that will lead to HD. If the embryo is free of the mutation, it will be implanted in the womb, and the baby will not develop HD. 

Huntington's disease and ethnicity

Across the world, the chances of getting HD are rare. However, there may be some variation depending on your ethnicity. Those with European origins have a three to seven per 100,000 chance of having it. It is much less common in Chinese, Japanese, or African people. This difference may be due to different origins of the original genetic mutation responsible for this disease. 

Huntington's disease symptoms

People with HD may initially experience minor movement, cognitive, or behavioral and psychiatric symptoms, which worsen with age as the disease progresses. Below are a few of the symptom categories. 

Physical symptoms 

Your brain controls how you move your body, so any changes to your brain may affect how you move. Someone with HD may experience the following physical symptoms:

• Difficulty swallowing their food, which may lead to choking
• Sudden movements, including chronic writhing, twitching, and jerking movements 
• Difficulty balancing, standing up, and walking without falling 
• Difficulty moving the mouth, which can affect speech

Cognitive symptoms 

Cognitive symptoms of HD can include the following:

• Difficulty focusing, including spacing out or feeling your mind "frozen" 
• Worsening impulse control
• Worsening self-awareness
• Difficulty remembering events 
• Struggling to learn new topics 

Psychological symptoms 

Behavioral or psychiatric symptoms can include the following: 

• Depression 
• Suicidal thoughts 
• Hypomania 
• Obsessive-compulsive disorder (OCD) 
• Psychosis

If you are experiencing suicidal thoughts or urges, call the 988 Suicide & Crisis Lifeline at 988 or text 988 to talk to a crisis provider over SMS. They are available 24/7 to offer support. 988 also offers an online chat for those with an internet connection.

Juvenile Huntington's disease

Juvenile HD may be diagnosed when people develop symptoms of the condition before age 20. This form of HD is rare but often worse than typical HD because those with it often have a lower life expectancy. Those who have juvenile HD may:

• Struggle in school
• Have difficulty behaving themselves
• Be more forgetful
• Have frequent seizures 

Many of these symptoms may seem like other challenges at first, such as mental illness or epilepsy. For this reason, a diagnosis of HD may not be made until someone is in their 20s or older, once the condition escalates. 

Life expectancy

HD has no cure or treatment. Life expectancy for those with HD differs. Some people with the disease live for ten years after symptoms appear. Those with lower life expectancies often have juvenile forms of the syndrome. However, it can also take decades for someone's condition to reach this level. Everyone's brain is different, and how the brain deteriorates may change because of this.

Deaths caused by HD are due to symptoms, including the following: 

• Choking due to the lack of swallowing control
• Falling because you can't control your balance
• Suicide due to depression
• Brain death due to seizures
• Brain injury 
• A lack of lung control 
• Cardiac arrest 

Treatment for Huntington's disease 

The only way to prevent HD is to have genetic testing or preimplantation genetic diagnosis, not to pass it on to the next generation. People with HD or who have a family history of HD may look into the condition when coming to a reproductive age to take measures to reduce the chances of your child also experiencing HD.  

While there is no cure, Huntington's Disease treatment involves slowing down the progress of the disease. The following methods may be recommended: 

• Physical therapy: Physical therapy can help someone with HD control their movements and improve cognitive motor skills, which may slow deterioration.
• Counseling: People with HD and their caregivers may respond emotionally to the condition. A professional counselor can offer trauma counseling, discussion about end-of-life care, and other challenging topics.
• Medical treatments: Some studies show that antihistamines may slow the progression of HD, but this research is still in the early stages. Early research also shows that creatine may slow the onset of HD.

Before trying a medication or medical treatment, consult a doctor to understand the potential side effects and any interactions with current treatments. 

Alternative treatment options 

Huntington's disease can be a terrifying and life-altering diagnosis. Whether you're living with the effects of this disease or caring for someone who is, you might struggle to feel motivated to attend a face-to-face counseling appointment. In these cases, online counseling may offer you convenient and flexible support.

Online therapy through a platform like BetterHelp can have various benefits for people with HD or those taking care of them. Whether your symptoms have progressed to the point that leaving home is challenging or you're experiencing signs of anxiety and depression that make it hard to get out of bed, online therapy allows you to attend treatment from your bed. In addition,

Research shows that online therapy is effective, too. One study showed that online therapy participants saw "significant and clinically meaningful improvements in depression and anxiety scores relative to baseline" at 12 weeks post-intervention, which were sustained at six months.