Huntington’s Disease – Diagnosis and Treatment
Diagnosis
Checking Movement, Senses, and Mental State
A specialist, such as a neurologist, starts by asking questions about the person’s medical background and any family members who may have had Huntington’s disease. They look for signs in three main areas:
- Movement: The doctor checks reflexes, balance, muscle strength, and how easy it is to move muscles. This helps spot physical symptoms linked to this genetic disorder.
- Senses: Testing includes touch, vision, and hearing to see if these are affected.
- Mood and Thinking: The doctor observes the patient’s mood and general mental state, as emotional changes often occur with this brain disorder.
These checks help determine if symptoms are similar to those found in Huntington’s disease or other brain conditions.
Standardized Cognitive Exams
Doctors may use neuropsychological exams to take a detailed look at thinking skills. This testing measures:
- Memory
- Reasoning skills
- Quickness of thought
- Use of language
- Understanding of space and directions
If early signs of Huntington’s disease appear, licensed psychologists sometimes perform deeper tests. These are especially helpful when symptoms are unclear or if juvenile Huntington’s disease is suspected.
Review of Emotional and Mental Health
Doctors often refer patients to a mental health expert, such as a psychiatrist, who checks for:
- Mood and feelings like sadness or anger
- The way a person acts in daily life
- Ability to make good decisions and handle stress
- Patterns of harmful thinking or drug use
This evaluation is important because the symptoms of Huntington’s disease often include changes in behavior and mood, not just physical problems.
Imaging and Measuring Brain Health
Doctors use tests such as MRI (magnetic resonance imaging) or CT (computed tomography) scans to take clear pictures of the brain. They look for changes in regions like the caudate nucleus, which can be damaged in Huntington’s disease.
Table: Common Imaging Tests
| Test | What It Shows | Why It’s Used |
|---|---|---|
| MRI | Brain structure and detail | Spot changes, rule out other issues |
| CT | Brain structure | Find signs of damage |
These scans help confirm if symptoms are linked with Huntington’s disease or another brain disorder. However, in early-onset or adult-onset Huntington’s disease, the brain may still look mostly normal.
Talking With a Genetic Counseling Expert
Before a blood test for the gene linked to Huntington’s disease, patients and their families usually meet with a genetic counselor. This professional explains:
- How the disease is passed down (autosomal dominant inheritance)
- What the test results might mean for health and family members
- Possible effects on medical insurance or jobs
This step prepares individuals for the practical and emotional impact of learning about a genetic disorder.
Blood Testing For Genetic Changes Before Symptoms
People with a family history, but who show no symptoms, may consider a predictive genetic test. This blood test looks for the changed gene but cannot say when—if ever—symptoms will begin.
This test is voluntary and should involve careful discussion with a counselor. Some want testing to help with future planning or make decisions about children.
Others prefer not to know. Laws exist to protect against unfair treatment based on genetic test results.
Treatment
Medicines to Manage Uncontrolled Movements
People with Huntington’s disease often experience involuntary movements such as chorea, myoclonic jerks, and athetosis. Doctors may prescribe vesicular monoamine transporter 2 (VMAT2) inhibitors to help reduce these sudden, unwanted movements.
These treatments aim to improve daily functioning and reduce the risk of injury. However, they may cause side effects such as drowsiness, agitation, or worsening of mental health conditions like depression or emotional disturbances.
Doctors may also prescribe antipsychotic medications (dopamine receptor blockers) to help control involuntary movements. These medications can also assist with symptoms like hallucinations or psychosis.
However, they may slow muscle activity and increase the risk of parkinsonism-like side effects, including muscle stiffness or slowed movements.
Other treatment options, such as dopaminergic agents or anticonvulsants, may be considered in some cases, although their benefits may be modest and balanced against potential side effects.
| Medicine | Use | Possible Side Effects |
|---|---|---|
| Vesicular monoamine transporter 2 (VMAT2) inhibitors | Controls chorea, reduces jerking movements | Drowsiness, fatigue, irritability, increased depression |
| Antipsychotic medications (dopamine receptor blockers) | Lessens involuntary activity, controls agitation, psychosis | Muscle stiffness, drowsiness, restlessness, weight gain, sedation, movement problems |
| Dopaminergic agent | Suppresses chorea, myoclonus | Dizziness, swelling, confusion |
Medicines to Support Mental and Emotional Health
Mood, behavior, and thinking changes are common in Huntington’s disease. Symptoms such as depression, irritability, personality changes, and obsessive-compulsive behaviors may develop.
Doctors may prescribe medications classified as selective serotonin reuptake inhibitors (SSRIs) to help manage depression and compulsive thoughts. These medications may cause side effects such as upset stomach, drowsiness, or headaches.
For severe agitation, mood swings, or hallucinations, doctors may use antipsychotic medications (dopamine receptor blockers). While these drugs can help with behavioral symptoms, they also carry a risk of causing additional movement problems.
For individuals experiencing mood swings or who have seizure disorders, doctors may prescribe mood stabilizers (a class of anticonvulsant medications) to help even out emotional highs and lows. These medications can also aid in seizure control.
Common emotional and behavioral concerns:
- Depression and anxiety
- Irritability
- Personality changes
- Obsessive thoughts
- Hallucinations
Counseling and Behavioral Therapy
Mental health counselors and psychotherapists support people and families as Huntington’s disease symptoms change over time.
They help people develop healthy routines, cope with stress, handle emotional disturbance, and communicate effectively.
They teach coping skills, support family communication, help manage expectations, and address anxiety, depression, or obsessive behaviors.
Support for Speaking and Swallowing
Speech therapists help people maintain as much speaking ability as possible. They may introduce communication tools, such as picture boards or electronic devices, to support expression.
Therapists also address eating and swallowing safety. If swallowing becomes hard, they teach new techniques or recommend foods and drinks that are easier to swallow. This can lower the risk of choking or aspiration.
Examples of support tools:
- Communication boards with pictures
- Voice amplifiers
- Adaptive cups and plates
Exercise and Mobility Training
Physical therapists help with muscle strength, flexibility, coordination, and balance. They design exercise routines suited to the person’s current abilities and help prevent falls or injuries.
Regular guided movement may slow the decline in mobility, though it does not stop mental or physical deterioration.
The therapist may suggest ways to improve posture or use mobility aids, like walkers or wheelchairs. Proper posture and safe movement patterns are emphasized. Adaptations are made as the person’s needs change.
Goals of physical therapy:
- Improve balance and walking
- Keep muscles flexible
- Teach safe transfer and movement strategies
- Reduce risk of falls
Everyday Skills and Adaptive Equipment
Occupational therapists help people with day-to-day activities, especially as movements become less controlled and thinking changes. They suggest ways to adjust the living environment and provide equipment to support independence.
Examples include installing handrails, using non-slip mats in the bathroom, adaptive utensils for eating, and clothing with easy fasteners.
They also train caregivers on how to help with activities like bathing and dressing. This support makes daily life safer and more manageable for people with Huntington’s disease.
Common adaptive tools:
| Purpose | Example Device |
|---|---|
| Eating | Weighted utensils, built-up handles |
| Moving around the home | Grab bars, ramps, bath seats |
| Dressing | Velcro clothing, button hooks |
| Bathing | Shower chairs, non-slip mats |
Family members and caregivers receive instruction on how to use these tools and how to encourage the person to be as independent as possible. This approach focuses on improving function and quality of life despite ongoing changes.
Daily Living and At-Home Care
Food Choices and Nutrition
Huntington’s disease often makes it hard to maintain a steady weight. People may burn extra calories because of involuntary movements, or they might have trouble eating enough at meals.
To help with this, some may benefit from eating small meals more often during the day. Adding snacks and, if needed, nutritional shakes or supplements can support energy needs.
Problems with chewing and swallowing are also common. These can raise the risk of choking and make meals tough. Choosing soft, moist foods and cutting food into small pieces can make eating easier.
Distraction-free mealtimes may help the person focus, reducing the risk of choking. Special forks, spoons, or cups designed for those with grip or hand control problems can help increase independence.
Covered cups with straws or spouts may also reduce spills and make drinking safer.
As the disease progresses, assistance while eating and drinking will usually become necessary. Caregivers can help make sure the person gets enough fluids and nutrition, while watching for signs of choking.
Supporting Thinking Skills and Emotional Health
Creating a calm, steady daily routine helps those with Huntington’s disease. Using to-do lists, calendars, or set schedules supports remembering appointments and daily tasks.
Tasks should be organized in order of priority, and broken down into small, simple steps to lower stress. Maintaining a quiet and organized home makes things less overwhelming. Reducing noise and clutter helps them focus and lowers anxiety.
Caregivers check for things that may make symptoms worse, such as sudden changes or high-stress activities, and try to lessen these situations.
For children or teens with Huntington’s disease, teachers and school staff work with families to arrange a customized learning plan. Keeping social connections is also important.
Caregivers can encourage activities that foster friendships and interactions, which help boost mood and mental health.
Ways to Cope and Find Help
Community Support and Resources
People with Huntington’s disease, along with their families, can benefit from a range of helpful resources:
Charities and Nonprofits: Organizations like the Huntington’s Disease Society of America offer support for caregivers, educational resources, and ways to connect with others through group meetings or events. These groups help caregivers learn more about the disease and where to find the help they need.
Government and Social Programs: Local health services may have daytime care centers, provide meal delivery, or offer caregivers short-term breaks called respite care. These services make daily life easier and help reduce stress for families.
Table: Types of Support Available
| Support Type | Description |
|---|---|
| Caregiver Training | Education for family and friends |
| Support Groups | Group meetings for emotional support |
| Daytime Care Centers | Safe spaces for patients during the day |
| Meal Assistance | Help with preparing or delivering meals |
| Respite Services | Short breaks for caregivers |
Being aware of these community resources helps families stay connected and avoid feeling isolated.
Preparing for Long-Term and End-of-Life Care
As Huntington’s disease progresses and care needs increase, families should plan ahead for more help in daily living and future healthcare decisions.
Making Legal Arrangements: Creating documents like living wills and medical power of attorney allows a person to clearly state their wishes for care and choose who makes decisions for them if they cannot. These legal tools reduce family disagreements and ensure care needs are met as the disease progresses.
Care Facilities and Hospice: When care needs become too great for home support, families may consider options like assisted living, nursing homes, or in-home nursing. Nearing the end of life, hospice services focus on comfort and pain relief, helping both the person and their family understand and cope with the process.
Checklist: Planning Ahead
- Discuss care preferences early, while the person can share their wishes.
- Identify who will make decisions if the person is unable.
- Complete legal documents like living wills and advance directives.
- Explore care facility options and hospice services if needed.
Having open talks with loved ones and healthcare teams provides helpful guidance for making these important decisions. This helps families honor the wishes of the person living with Huntington’s and reduces stress during difficult times.
Getting Ready for Your Visit
Steps You Can Take
Prepare before seeing a neurologist or visiting a movement disorders clinic. Bring a detailed list of any symptoms—physical, mental, or emotional—that you have noticed or that have changed.
Note the dates when these symptoms began and how they have changed over time.
Also, write down any big life changes or recent stresses. List all medicines and supplements you take, including dosages, even if you bought them without a prescription.
Create a family health chart. List any relatives who have had Huntington’s disease, other disorders that cause movement problems, or mental health conditions.
If possible, ask a family member or friend to attend the appointment with you. They can provide personal support and may remember symptoms or changes that you forgot.
To help you get organized, use the table below as a guide:
| Item to Prepare | Details to Include |
|---|---|
| Symptom List | What, when, and how symptoms began |
| Recent Stresses | Any new or major life events |
| Medication List | All medicines and dosages |
| Family Health History | Any neurological or mental illnesses |
| Support Person | Friend or family to attend with you |
Questions Your Specialist May Ask
During the appointment, the healthcare provider will likely ask several questions to better understand your situation. Expect questions such as:
- When did you first notice the symptoms?
- Do the symptoms stay the same or do they come and go?
- Has anyone in your family had Huntington’s disease or similar conditions?
- Has anyone struggled with mental health issues or died at a young age?
- Do any family members live in care homes or have unusual movements?
- Have you noticed any mood changes, sadness, or trouble completing daily tasks?
