Huntington’s Disease is a type of dementia caused by a defective gene. This progressive brain disorder causes changes within the central area of the brain that affects movements, mood, and thinking.
What is Huntington’s Disease?
Huntington’s Disease is a progressive brain disorder caused by a defect in chromosome 4. Anyone who inherits this defect from one of their parents will eventually develop Huntington’s Disease because it is known as what we call “dominant.”
This defective gene creates a protein that we call huntingtin. While researchers still don’t know this protein’s normal function, they know that the defective protein causes Huntington’s Disease. This abnormal protein, known as huntingtin, creates changes in the brain that cause your body to create involuntary movements, have a severe decline in thinking and reasoning, as well as become more irritable, become depressed, and other changes in mood.
When does Huntington’s Disease occur?
For the most part, Huntington’s Disease is diagnosed between 30 and 50 years of age. However, those living with Huntington’s Disease can see signs as early as two years old and as late as 80 years old.
Are there other names for Huntington’s Disease?
Huntington’s Disease is known by the following:
- Huntington’s Disease
- HD
- Huntington chorea
- Huntington chronic progressive hereditary chorea
- Huntington’s chorea
What are the Types of Huntington’s Disease?
Adult-Onset Huntington’s Disease
The most common form of Huntington’s Disease is adult-onset Huntington’s Disease. Individuals living with Huntington’s Disease will start to see early signs of this Disease in their thirties or forties. These signs can include being more irritable, depression, small involuntary movements, trouble learning new information, as well as struggling to make decisions. As the Disease progresses, these symptoms will become more and more noticeable. Those living with Huntington’s Disease may struggle to walk, speak, and swallow. Once diagnosed with Huntington’s Disease, those living with Huntington’s Disease live for about 15 to 20 more years.
Juvenile Huntington’s Disease
Juvenile Huntington’s Disease is less common than Adult-onset. This form of Huntington’s Disease begins in childhood. Those living with Juvenile Huntington’s Disease will experience movement problems, mental and emotional changes. Other signs of Juvenile Huntington’s Disease may include slow movements, clumsiness, falling frequently, slurred speech, and drooling. They will see a decline in academics at school caused by those children living with Huntington’s Disease thinking and reasoning skills decline. Seizures occur in about thirty to fifty percent of the kids with the Juvenile form of Huntington’s Disease. Symptoms tend to progress more rapidly in children than adults. Children living with Huntington’s Disease usually live for about ten to fifteen years after signs appear.
What Causes Huntington’s Disease?
Huntington’s Disease is caused by gene expansion. This expansion then causes increasing brain nerve cell loss. The more the expansion occurs and repeats, the earlier Huntington’s Disease begins.
Huntington’s Disease is inherited from one of your parents. You only need to receive one abnormal gene from one of your parents. Therefore if one of your parents has the abnormal gene, then a child has a 50% chance of getting Huntington’s Disease. There are some cases where the gene inheritance is not obvious. For instance, if your parent dies before symptoms or signs of Huntington’s Disease begin to show in their life.
If you inherit the abnormal gene from your parents, you are born with it. It is known as a genetic variant. It is not contagious in any way. Only someone that has this genetic variant can pass it to their children. Every person that carries this variant will eventually see signs of Huntington’s Disease and be diagnosed with it if they live long enough to see the symptoms develop.
Huntington’s Disease affects males and females equally and does not skip a generation.
Huntington’s Disease (HD) affects individuals of all races, genders, and ethnic groups.
Symptoms of Huntington’s Disease
Signs of Huntington’s Disease usually appear between the ages of thirty and fifty, but they can appear at any time. These symptoms may vary by individual.
Symptoms include:
- Personality and mood changes
- Depression
- Problems with memory, thinking, and judgment
- Loss of coordination
- Loss of control of movements
- Difficulty swallowing and speaking
#1. Early Signs and Symptoms
Often doctors may not recognize early signs of Huntington’s Disease if no one in your family has been previously diagnosed with Huntington’s Disease. These initial signs may include:
- Slight uncontrolled movements
- Small changes in coordination/clumsiness
- Stumbling
- Slight mood changes
- Slight Emotional changes
- Difficulty focusing at work or school
- Lapse in short-term memory
- Depression
- Irritability
- Loss of motivation
Other early signs of Huntington’s Disease that develop may include dropping things or forgetting names.
#2. Middle and Late Stage Signs and Symptoms
As Huntington’s Disease progresses, signs and symptoms progressively get worse.
Physical Changes
Those living with Huntington’s Disease may see these signs and symptoms.
- Difficulty speaking
- Slurred Speech
- Weight loss
- Difficulty eating and swallowing
- Risk of choking
- Uncontrollable movements
- Facial movements
- Jerking of face and head
- Fidgety movements of arms, legs, and body
- Stumbling
Emotional Changes
Those living with Huntington’s Disease may see these emotional changes occur.
- Aggression
- Anger
- Antisocial
- Apathy
- Depression
- Excitement
- Frustration
- Lack of emotion
- Moody
- Stubborn
- Cognitive changes
- Loss of initiative
- The decline in Organization skills
- Disoriented
- Difficulty focusing
- Struggles with multitasking
#3. Later Stage Huntington’s Disease
By late-stage Huntington’s Disease, those living with HD will no longer be able to walk or talk and will need full-time care.
Does the risk of suicide increase with those living with Huntington’s Disease?
According to the Huntington’s Disease Society of America (HDSA), the risk of suicide is 10x higher than average in those living with Huntington’s Disease. Those who have loved ones diagnosed with Huntington’s Disease should be aware of the signs of suicide and know these suicide prevention strategies.
- Ask the questions, “Are you considering suicide?”
- Listen without judgment
- Call 911 or Text TALK to 741741 to talk with a trained crisis counselor
- Stay with your loved one until help arrives.
- Remove all harmful objects. This includes medications, weapons, and anything else that can be used for self-harm.
Stages of Huntington’s Disease
Huntington’s Disease is a progressive disease that worsens over time. These stages include:
- Prodromal Stage
- Early Stage Huntington’s Disease
- Moderate Stage Huntington’s Disease
- Advanced Stage Huntington’s Disease
#1. Prodromal Stage
In the Prodromal stage, there are typically no motor symptoms. There are mild cognitive changes and psychiatric changes.
During this stage, you may see:
- Abnormal eye movements
- Changes in walking
- Difficulty with coordination with your hands
- Sense of smell decreases
- Become more irritable/sensitive
- Depression
- Anxiety
- Apathy
- Occasional psychosis
These symptoms will increase over time until a diagnosis is made. A peak in suicide occurs in this stage right before a diagnosis is given.
#2. Early Stage Huntington’s Disease
In the early stage of Huntington’s Disease, involuntary movements and other symptoms start to show. These may include
- Chorea: Continuous irregular involuntary movements
- Often confused with restlessness
- Sometimes movements can be suppressed
- Patients are often unaware of movements
- May Begin to have difficulty walking
- Changes in facial expressions
- Anxiety
- Depression
- More Irritable
- Apathy
- Impulsive behaviors
- Obsessions
- Memory loss
- Executive Dysfunction
- Trouble organizing
- Slow processing speed
- Poor attention
- Speech changes
- Trouble swallowing
- Muscle atrophy
- Heart problems
- Weight loss
#3. Moderate Stage of Huntington’s Disease
When symptoms get progressively worse, those living with Huntington’s Disease enter the moderate stage of Huntington’s Disease. Symptoms include:
- Worsening Chorea
- More difficulty walking leads to more falls
- Impaired coordination that disrupts day-to-day activities
- Difficulty speaking. It becomes more difficult to understand.
- A faster decline in motor functions
- Impaired thinking
- Interferes with driving
- Interferes finding employment
- Behavior Symptoms worsen
- Irritability
- Anxiety
- More impulsive
- Lack of insight
- Poor Sleep habits
- Loss of independence
During the moderate stage of Huntington’s Disease, there is a second peak in suicide rates. It is four times higher than the general population and is the 3rd leading cause of death among those living with Huntington’s Disease.
#4. Advanced Stage Huntington’s Disease
In advanced stage Huntington’s Disease, you may see these symptoms.
- Chorea lessons, but Parkinsonism increases.
- Slowness
- Stiffness
- Grinding of teeth
- Abnormal limb posture
- Walking worsens
- Inability to maintain posture
- Increases falling
- Can lead to serious injury
- Speech becomes very difficult
- Behavioral symptoms lessen. Suicide rates decrease
- Episodes of confusion occur
- Swallowing worsens
- Requires 24-hour care for the safety of your loved one.
What is the Life Expectancy of those living with Huntington’s Disease?
Those living with Huntington’s Disease progressively get worse over time. Studies conclude that, on average, those living with Huntington’s Disease will live for fifteen to twenty more years once symptoms appear.
Diagnosis of Huntington’s Disease
Suppose you or a loved one think you may have Huntington’s Disease. In that case, a diagnostic test can confirm the defective gene for the huntingtin protein causing Huntington’s Disease symptoms, and can also detect the gene variant in those who have yet to see signs as well (This will only be done if you are at risk of developing HD because a parent has Huntington’s Disease.)
Tips to Visiting your Doctor
To get the most out of your visits with your doctor, use these tips.
- Know why you are seeing your doctor.
- Before your visit, write down all your questions so that you remember to ask them.
- Bring someone with you to help you remember to ask your questions as well as any key points from your appointment.
- Write down any new information such as new diagnoses, new medicines, new treatments, or tests that are available.
- Understand why new medications are being prescribed and the side effects of taking them.
- Write down all follow-up appointments. Write the date, time, and the purpose of the visit.
- Get a care summary when leaving the office to remember all the key points of the visits.
- Know how you can contact your healthcare provider if you have any questions that come up before your next visit.
Treatment of Huntington’s Disease
Currently, there is no cure for Huntington’s Disease. Treatments cannot reverse the progression or slow it down. Some medications and therapies are available to help manage symptoms.
Those living with Huntington’s Disease should
- Maintain a healthy diet
- Use therapies such as Physical, Occupational, and Speech
- Start psychiatric services early on
- Understand that caregivers will play an essential role in helping them manage HD.
Medications
There are currently two medications that are approved to specifically treat Huntington’s Disease by the Food and Drug Administration (FDA).
Tetrabenazine. Treats jerky, involuntary movements that can occur caused by Huntington’s Disease. The known side effects of this medication include depression and suicidal thoughts or actions.
Deutetrabenazine. Treats involuntary movements that occur in your face and tongue.
Suppose those living with Huntington’s Disease develop signs of depression or mood swings while taking these medications. In that case, they should immediately contact their doctor.
Many other medications are currently undergoing clinical trials that can help with symptoms of Huntington’s Disease.
Other medications that can help control movements may include:
- Clonazepam
- Haloperidol
- Clozapine
Side effects of these medications can include sedation, stiffness, and rigidity.
For Obsessive-Compulsive symptoms and depression, doctors may prescribe:
- Fluoxetine
- Sertraline
- Citalopram
Speech Therapy
Huntington’s Disease may cause severe problems with controlling your throat and mouth muscles. This makes it difficult for those living with Huntington’s Disease to speak, swallow, and eat. Speech therapy may help see improvement in some of these problems. If the condition worsens, speech therapists can also teach non-verbal communication to those living with Huntington’s Disease.
Physical and Occupational Therapy
Physical therapists can help those living with Huntington’s Disease improve muscle strength, flexibility, and balance.
Occupational Therapists can help you in a variety of ways. These include helping get the best supportive devices to help with day-to-day living.
Living With Huntington’s Disease
As Huntington’s Disease progresses, symptoms will worsen. You may experience
- Increased uncontrolled movements
- Changes in thinking, understanding, learning, and remembering
- Mental, emotional, and behavioral changes
- Difficulty speaking
- Difficulty swallowing
- Depression
- Lack of interest
- Become antisocial
- Disoriented
- Become more stubborn
It is common if you are living with Huntington’s Disease to become frustrated as you begin to lose physical and mental abilities.
Suppose you have a loved one living with Huntington’s Disease. It is important to remember that certain behaviors and moods result from the Disease and not the person. When times get difficult, take a step back, take a deep breath, and help when you can.
If you are a current caregiver to someone living with Huntington’s Disease, it is important to build a support team. This includes caretakers, doctors, and therapists. They will help your loved ones through the challenges they will soon face.
It is important to do advanced planning both financially and medically to ensure that you do what is best for your loved one in the future. The following questions should be addressed.
- Who do you want to make healthcare decisions for you when you no longer can?
- What kind of medical treatments do you want? What type of treatment do you not want?
- How comfortable do you want to be?
- How do you want people to treat you?
- What do you want your loved ones to know?
Can Genetic Testing Be Done For Huntington’s Disease?
Since 1993 genetic testing for Huntington’s Disease has been possible. Individuals with a family history of this Disease can ask their healthcare provider about genetic testing to see if they are a carrier of the gene variant that causes Huntington’s Disease.
Whether you choose to get tested early or just see if symptoms develop is up to the individual that is at risk of developing HD. Genetic counselors can help assist you in making this decision.
Huntington’s Disease and Pregnancy
If couples want to have a child and one of them has Huntington’s Disease, they can choose to use in-vitro fertilization (IVF).
The embryo is genetically tested in a laboratory. If the gene mutation is not present, then a doctor will implant it into the individual who will carry the baby.
Can Huntington’s Disease Be Tested For During Pregnancy?
Couples can choose to have their fetus undergo genetic testing during gestation if there is a family history of the Disease. Doctors use a chorionic villus sample (tissue sample from the placenta) at ten to eleven weeks or through amniocentesis at fourteen to eighteen weeks.
Key Points of Huntington’s Disease
- Huntington’s Disease is genetically passed down from one parent. It is a gene variant.
- It is not contagious.
- Huntington’s Disease affects both men and women equally and all races and cultures.
- Suicide rates increase in those living with Huntington’s Disease.
- There are two types of Huntington’s Disease, Juvenile Huntington’s Disease, and Adult-Onset Huntington’s Disease.
- Symptoms affect movements, mood, and thinking.
- There are currently no treatments available to treat Huntington’s Disease. Still, there are medications and therapy that can help manage symptoms.
- Eventually, those living with Huntington’s Disease will require 24-hour care for their safety.
Resources:
- https://medlineplus.gov/genetics/condition/huntington-disease/#resources
- https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease
- https://www.movementdisorders.org/MDS-Files1/Education/Patient-Education/Huntingtons-Disease/pat-Handouts-Huntington-v5.pdf
- https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=&cad=rja&uact=8&ved=2ahUKEwjr2rH_yc_0AhUVmmoFHYcyCLgQFnoECBgQAQ&url=https%3A%2F%2Fmed.stanford.edu%2Fcontent%2Fdam%2Fsm%2Fneurology%2Fdocuments%2Fmd%2FMD-HD%2520Stages%2520Talk.pdf&usg=AOvVaw3kxd1W4d2CDBa6n0-gM4jX
