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Rare Disease Roadmap: Huntington’s Disease

Journey Overview

Huntington’s Disease is a neurodegenerative disorder that causes the breakdown and permanent loss of neurons (nerve cells) in the brain. This breakdown in neurons causes a person to experience involuntary and uncontrolled muscle movements, changes in personality, and problems with coordination, thinking, and memory. Symptoms become more severe as the disease progresses. In most cases, symptoms begin in a person’s 30s or 40s, and the juvenile form of the disease is less common. If you or a loved one is living with Huntington’s Disease, this guide provides information on the treatments available, the healthcare providers you may work with, and questions to discuss during your appointments to take an active role in your care.

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Get to Know Your Care Team

People who are living with Huntington’s disease will work with an interdisciplinary team of healthcare providers with different specialties. This team can include:

Movement Disorder Neurologist
Treatment for Huntington’s Disease focuses on managing involuntary movements and other symptoms. Treatment is typically overseen by a neurologist, a medical doctor with specialized training in diagnosing and treating disorders that affect the nervous system. Often, this will be a neurologist that specializes in movement disorders.
Psychiatrist and Neuropsychologist
Treatment also focuses on managing behavioral and personality changes caused by Huntington’s Disease. A team may include a psychiatrist, a medical doctor that specializes in treating mental health disorders. A team may also include a neuropsychologist, a provider that specializes in how brain disorders affect behavior and thinking.
Genetic Counselor
Huntington’s Disease is caused by mutations to the huntingtin gene. This gene contains instructions for making proteins that perform an important—but unknown—role in the health of nerve cells in the brain. Genetic counselors can guide families through genetic testing options and how genetic risks may affect other family members.
Other Providers
Huntington’s Disease can affect many aspects of a person’s life. Other members of an interdisciplinary team may include a registered dietitian, physical therapist, occupational therapist, and speech pathologist. As with many conditions, primary care providers, nurses, and social workers play an important role in care and treatment.

Huntington’s Disease Treatment

There are currently no therapies that can cure or slow the progression of Huntington’s Disease. The goal of treatment is to control symptoms and improve quality of life.
Medications that help control chorea (sudden involuntary movements) and psychiatric symptoms are a mainstay of treatment.
Psychotherapy and medications can help treat depression and anxiety.
Social support, physical therapy, occupational therapy, and speech therapy are other important aspects of a treatment plan.

Huntington’s Disease is a progressive disease, and symptoms will change and worsen over time. This means that a treatment plan will need to evolve over time. Work with your healthcare team to understand how different therapies can achieve different goals.

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The Conversation: Questions to Ask Your Team

Your appointments are a time to review your diagnosis, discuss how treatment is going, and make decisions about the next steps in treatment. At your appointment, be prepared to talk about:

Any changes in symptoms:

Any changes in movement, either involuntary movements or controlled movements (such as problems with balance or coordination).
Any changes in moods, thinking, or behavior. For example, problems with concentrating, impulse control, memory, obsessive thoughts, or controlling emotions like anger.
Mental health, including any feelings of depression, anxiety, apathy, or irritability.
Any changes in how you feel, even if you’re unsure if the changes are related to having Huntington’s Disease.
Anything that has been more difficult or frustrating, such as difficulty taking care of your home or taking care of yourself.
Anything that you are concerned about becoming more difficult in the future.
Your sleep habits and sleep schedule, including any difficulty sleeping and feeling sleepy during the daytime.
Eating habits and nutrition, including any difficulty eating.
Any unintended weight loss or weight gain.

Treatment and next steps in treatment:

Review any medications that you are currently taking, and how each medication works to manage symptoms.
Review any non-medication therapies that are part of your treatment plan, such as physical therapy and speech therapy.
How do you feel about your current treatment plan?
Are there any symptoms or challenges your treatment plan is not addressing?
Does your healthcare provider recommend any changes to your treatment plan?
Do you have a plan in place if you experience a medical emergency?

If you are considering a new medication: