Huntington’s Disease

What is Huntington’s disease?

Huntington’s disease (HD) is a hereditary, progressive neurodegenerative disorder that affects the brain’s nerve cells. It typically starts to manifest symptoms in adulthood, usually between the ages of 30 and 50, though it can appear earlier or later in life.

HD is caused by a mutation in the huntingtin gene (HTT), located on chromosome 4. This mutation leads to the production of an abnormal form of the huntingtin protein, which gradually damages specific areas of the brain, primarily the basal ganglia and cerebral cortex.

The symptoms of Huntington’s disease can vary widely between individuals, but commonly include:

  1. Movement Disorders: Involuntary jerking or twitching movements (chorea), muscle rigidity, and difficulty with coordination and balance.
  2. Cognitive Decline: Impaired judgment, difficulty with organizing thoughts, memory lapses, and decreased cognitive abilities.
  3. Psychiatric Symptoms: Depression, anxiety, irritability, mood swings, and in some cases, psychosis.
  4. Behavioral Changes: Impulsivity, apathy, and social withdrawal.

Diagnosing Huntington’s disease typically involves a combination of genetic testing, neurological examinations, and assessment of symptoms. Genetic testing can confirm the presence of the mutation associated with HD.

Huntington’s Disease Society of America Designated Center of Excellence

Rocky Movement Disorders Center collaborates with the Movement Disorders Foundation to provide an HDSA Center of Excellence. This means that patients at our clinic have access to various services in one center and one clinical visit. Services include neurology, psychology, genetic counseling, social work, occupational therapy, physical therapy, and speech therapy. Each of these professionals has deep experience working with families affected by Huntington’s Disease and works collaboratively to help families plan the best Huntington’s Disease care program throughout the disease.

At world-class facilities such as ours, “patients benefit from expert neurologists, psychiatrists, therapists, counselors and other professionals who have deep experience working with families affected by Huntington’s Disease and who work collaboratively to help families plan the best Huntington’s Disease care program throughout the course of the disease.” -HDSA

  • Neurology

  • Clinical Psychology

  • Genetic Counseling

  • Social Work

  • Occupational Therapy

  • Physical Therapy

  • Speech Therapy

Genetic Testing & Counseling

Reasons to Test

Reasons for some patients to consider presymptomatic genetic testing include the following:
1. To help make informed decisions about future career endeavors or other life choices
2. For family planning purposes to determine whether or not children may be at risk of developing Huntington’s disease
3. For psychological reasons living with the uncertainty of whether or not one may develop Huntington’s disease may be very stressful
4. To allow one to be proactive in taking advantage of the ability to participate in research studies that may slow the progression of Huntington’s disease.

Presymptomatic genetic testing may be considered by patients who have a family history of Huntington’s disease who wish to know if they will definitely develop Huntington’s disease. The decision to obtain this information is often a difficult one and patients need to be psychologically prepared to receive this information. We work with each individual considering presymptomatic genetic testing to help determine whether or not they are prepared to undergo this process and receive this information. Patients who are considering genetic testing are first interviewed by our social worker who obtains basic information about the patient, any clinical symptoms that may be worrisome for Huntington’s disease, and information about the patient’s family history of Huntington’s disease. Information about the presymptomatic testing protocol is provided in significant detail to patients at this time.

The presymptomatic testing protocol ranges from 2-4 visits in the multidisciplinary Huntington’s disease clinic. All patients should bring a spouse, caregiver, or other support person to their visits as part of this testing protocol. On the first visit, patients undergo an interview with our clinical psychologist and meet with our genetic counselor to receive detailed education about Huntington’s disease and its genetics as well as how genetic testing is performed (with a simple blood test). Patients are also examined by Dr. Kumar to determine if they show any clinical signs of Huntington’s disease. During his first visit, patients receive substantial counseling about the pros and cons of genetic testing as well as the psychological and financial issues surrounding receiving such information.

If patients are thought to have be appropriately psychologically and otherwise prepared for genetic testing and have already been thoroughly educated about Huntington’s disease, blood may be drawn at this first visit for genetic testing. If patients require more education for psychological preparation, patients do not have their blood drawn and they return for additional evaluation and counseling the following month after having had some time to digest the information presented at the first visit and possibly evaluate the ramifications of obtaining genetic information on their own life (e.g. effects on ability to obtain life, disability, or long-term care insurance). Some patients decided not to proceed with genetic testing after receiving all the appropriate counseling and education. However, most patients elect to have their blood drawn for genetic testing on the first or second clinical visit. Once blood is drawn for genetic testing, the test results are discussed in detail at the next visit. The psychological ramifications and the clinical ramifications as well as a plan to go forward are considered in collaboration with the patient and his/her family. Most patients are seen for a post-test counseling session in the third or fourth clinic visit to address any outstanding questions or psychological or emotional issues that may have arisen in the month since they have been provided this important genetic information.

The scientific community has made tremendous advances in Huntington’s disease research and we are beginning to study new experimental medications which have the potential to slow the progression of Huntington’s disease. Preliminary data based on animal models of Huntington’s disease suggests that potentially disease-slowing treatments might be most effective if applied early in the disease. It is not certain that these investigational medications will work in people so clinical trials in humans with Huntington’s disease are needed to demonstrate that these interventions are indeed safe and effective.

In collaboration with CenExel RMCR, we are dedicated to providing world-class research opportunities to our patients in both observational and investigational clinical trials.

Click Here to Learn More

Huntington’s Disease

What is Huntington’s disease?

Huntington’s disease (HD) is a hereditary, progressive neurodegenerative disorder that affects the brain’s nerve cells. It typically begins to manifest symptoms in adulthood, typically between the ages of 30 to 50, though it can appear later in life.

HD is caused by a mutation in the huntingtin gene (HTT), located on chromosome 4. This mutation leads to the production of an abnormal form of the huntingtin protein, which gradually damages specific areas of the brain, primarily the basal ganglia and cerebral cortex.

The symptoms of Huntington’s disease can vary widely between individuals, but commonly include:

  1. Movement Disorders: Involuntary jerking or twitching movements (chorea), muscle rigidity, and difficulty with coordination and balance.
  2. Cognitive Decline: Impaired judgment, difficulty with organizing thoughts, memory lapses, and decreased cognitive abilities.
  3. Psychiatric Symptoms: Depression, anxiety, irritability, mood swings, and in some cases, psychosis.
  4. Behavioral Changes: Impulsivity, apathy, and social withdrawal.

Diagnosing Huntington’s disease typically involves a combination of genetic testing, neurological examinations, and assessment of symptoms. Genetic testing can confirm the presence of the mutation associated with HD.

Huntington’s Disease Society of America Designated Center of Excellence

Rocky Mountain Movement Disorders Center collaborates with the Movement Disorders Foundation to provide an HDSA Center of Excellence. This means that patients at our clinic have access to various services in one center and in one clinical visit. Services include neurology, psychology, genetic counseling, social work, occupational therapy, physical therapy, and speech therapy. Each of these professionals has deep experience working with families affected by Huntington’s Disease and work collaboratively to help families plan the best Huntington’s Disease care program throughout the disease.

  • Neurology

  • Clinical Psychology

  • Genetic Counseling

  • Social Work

  • Occupational Therapy

  • Physical Therapy

  • Speech Therapy

learn more about Huntington’s disease

Genetic Testing & Counseling

The scientific community has made tremendous advances in Huntington’s disease research and we are beginning to study new experimental medications which have the potential to slow the progression of Huntington’s disease. Preliminary data based on animal models of Huntington’s disease suggests that potentially disease slowing treatments might be most effective if applied early in the disease. It is not certain that these investigational medications will work in people and so clinical trials in humans with Huntington’s disease are needed to demonstrate that these interventions are indeed safe and effective.

Reasons to Test

Reasons for some patients to consider presymptomatic genetic testing include the following:


1. To help make informed decisions about future career endeavors or other life choices.

2. For family planning purposes to determine whether or not children may be at risk of developing Huntington’s disease

3. For psychological reasons living with the uncertainty of whether or not one may develop Huntington’s disease may be very stressful

4. To allow one to be proactive in taking advantage of the ability to participate in research studies that may slow the progression of Huntington’s disease.

In collaboration with CenExel RMCR, we are dedicated to providing world-class research opportunities to our patients in both observational and investigational clinical trials.

Click Here to Learn More

Huntington’s Disease Research

We are currently conducting multiple clinical trials and recruiting for both early and advanced Huntington’s patients from across the nation.