Huntington's Disease

Charleston HDSA Education Day: Caregiving in Huntington's Disease

Join us for this education day focused on the caregiver. We will discuss why it is important to care for the caregiver, as well as practical aspects of caregiving such as managing behavioral issues, getting help with care, considering genetic testing and participating in research.

Date: August 28, 2021
Time: 9 a.m. to 1 p.m.
Virtual Event

*Click the Charleston HDSA Education Day: Caregiving in Huntington's Disease (PDF) link on this page for more details.

Register here for virtual attendance.

What is Huntington's disease?

Huntington's disease is an inherited disease associated with progressive degeneration of the brain. The disease occurs as a result of an abnormality in a gene called the Huntingtin gene. This gene is present in every human being but in people with Huntington’s disease the gene is expanded (it is larger) in a certain part which causes the body to produce a protein that is thought to cause the disease.

What symptoms can Huntington's disease cause?

Huntington's disease usually causes movement, cognitive, and psychiatric symptoms. The type of symptom and the severity will vary with the progression of the disease and not everyone will have the same symptoms. Some of the more common symptoms associated with Huntington disease are:

Changes in mobility:

Involuntary excessive writhing or jerky movement, known as chorea

Abnormal contraction of the muscles causing odd postures, known as dystonia

Impaired balance, causing falls

Changes in speech and swallowing

Changes in cognition:

Slowness in thinking

Difficulty organizing tasks or thoughts

Problems finding words

Misjudging distances

Psychiatric changes

Feeling too sad or worried

Difficulty falling asleep or staying asleep

Being impulsive and showing inappropriate behaviors

Social withdrawal.

How is Huntington’s disease diagnosed?

A preliminary diagnosis of Huntington's disease is done by a neurologist based on the history of symptoms, physical examination, cognitive and psychiatric evaluation as well as imaging. The family history of neurologic conditions is very important as Huntington's disease runs in families. If after this evaluation the neurologist has a suspicion for Huntington's disease, genetic counseling and testing may be recommended. The genetic testing will tell you if there is an abnormal expansion in the gene that causes Huntington's disease. It will not tell you what symptoms you will have or when will they appear.

I have a family history of Huntington's disease, but I do not have any symptoms, should I be evaluated?

If you have a family history of Huntington's disease and you do not have symptoms there are certain situations in which you may want to consider being evaluated. One of these is if you are considering having children. When you carry the Huntington's disease gene your potential child has a 50% chance of having it. Currently, if you know you are a carrier some methods allow you to have children and make sure they do not carry a gene that causes Huntington's disease. Other situations include when the uncertainty of whether you carry the Huntington's disease gene or not creates a high level of stress or when affects the ability to plan for the future. Independent of the situation driving the interest in knowing if one is a carrier or not, we strongly suggest having genetic counseling before considering the test. We do not recommend testing in people younger than 18 if they do not have symptoms.

How is Huntington's disease treated?

Treatments can be either symptomatic or disease-modifying. The first one addresses the symptoms without affecting the process that is causing them while the second one affects the progression of the disease, either by slowing it down, stopping, or reversing it. Currently, we only have treatments for the symptoms of Huntington's disease, such as depression, anxiety, or excessive movements amongst others. These include medications and therapies. The treatment will be tailored depending on the symptoms you have and how they interfere with your life. Unfortunately, we do not have a cure for Huntington's disease yet.

What does MUSC have to offer?

As an HDSA Center of Excellence MUSC offers a comprehensive list of resources for the diagnoses and management of Huntington's disease. Multiple specialties collaborate in the care of Huntington's disease:

  • Neurologists who specialize in movement and cognitive disorders
  • Psychiatrists
  • Genetic counselors
  • Neuropsychologists
  • Therapists
    • Physical therapy
    • Occupational therapy
    • Speech therapy
  • Social workers
  • Palliative care specialists

The care is coordinated by the neurologist who will help you arrange access to the different specialties. This can be done in separate visits or at our interdisciplinary clinic. At the interdisciplinary clinic, you will be evaluated by all the specialties listed above who will then get together and discuss the case to propose a management plan. The goal of the plan is not only to help the patient with Huntington's disease but also the caregivers.

MUSC collaborates with members of the Huntington's disease community by holding a support group every month. The goal of the support group is to discuss issues or concerns related to the impact of Huntington's disease in someone's life. Periodically, the different specialties will present to the support group on topics that range from medical care to social services.

As an academic institution, research is a big part of MUSC. Therefore, our patients will have access to research opportunities that aim to advance our understanding and management of Huntington's disease.

What should I do to establish care at MUSC?

Call MUSC neurology scheduling at 843-792-3223. When you call please make sure you state that your visit is related to Huntington's disease so you can be scheduled with a Huntington disease specialist.