Huntington's Disease is one of the most common genetic disorders in the U.S., affecting more than 250,000 Americans.
Learn more about the symptoms and treatment options available from the multidisciplinary team at UVA Health System's Huntington's Disease Program.
Selected Podcast
What Are the Signs of Huntington’s Disease?
Featured Speaker:
Organization: UVA Huntington's Disease Program
Dr. Madaline Harrison
Dr. Madaline Harrison is the director of the UVA Huntington's Disease Program, recognized as a Center of Excellence by the Huntington's Disease Society of America. In addition to Huntington's disease, she cares for patients with a range of movement disorders, including Parkinson's disease, tremor, dystonia and Tourette's syndrome.Organization: UVA Huntington's Disease Program
Transcription:
What Are the Signs of Huntington’s Disease?
Melanie Cole (Host): Huntington's disease is one of the most common genetic disorders in the United States affecting more than 250,000 Americans. My guest is Dr. Madeline Harrison. She is the Director of the UVA Huntington's Disease Program, recognized as a center of excellence by the Huntington's Disease Society of America. Welcome to the show, Dr. Harrison.
Tell us, what is Huntington's disease?
Dr. Madeline Harrison (Guest): Huntington's disease is a hereditary neurodegenerative disorder, meaning that it is inherited and causes loss of brain cells that results in a number of symptoms that progress over time.
Melanie: What age do you typically see the onset?
Dr. Harrison: It's more variable than we originally thought, but most typically, the symptoms become apparent somewhere between the ages of 35 and 55.
Melanie: So what causes it? Is there a genetic component? Are there certain risk factors people can be aware of?
Dr. Harrison: It is a genetic disorder, so that the principal risk factor is coming from a family with Huntington's disease. When they've identified the specific change in the gene that causes the disorder, it's a specific expansion, and it's passed from parent to child so that each child of an affected individual has a 50 percent chance of inheriting the genes.
Melanie: So if a parent had that, do you recommend a genetic test? Do they need a genetic test to say whether they have that gene or not?
Dr. Harrison: Well, the genetic test is highly specific and will certainly indicate if they have the genes. About 95 percent of the time, the mutation is very specific and has specific features. That's called a CAG repeat expansion. There's a certain of repeat sequences that will result in the disease. Deciding to have genetic testing is a very individual decision, because you have the genes on birth. But the symptoms may not appear into midlife, as we discussed. So, for diagnostic purposes, it's very helpful. But the clinical symptoms are what actually indicate that the disease has begun.
Melanie: What are the symptoms of Huntington's disease? When do they appear? What do you notice?
Dr. Harrison: It's variable, but there are three areas that are affected in the majority of the individuals at some point along the course of the disease. Often, the first changes are subtle changes in cognitive efficiency—ability to organize information. Sometimes, there are mood and personality changes early on. The most characteristic symptoms are changes in motor function. People develop extra involuntary movement called chorea. It's the most common. And also, difficulty coordinating movements necessary for simple tasks, for walking, for performing coordinated tasks with your hands. Those are the symptoms that are the most definite indications that the disease has started.
Melanie: These are movement disorders. What about cognitive disorders, or psychiatric? Are there any others that go along with these?
Dr. Harrison: Yes, there certainly are. There's a very high incidence of psychiatric disorders that can really take any form. Most common are what we call mood disorders. People maybe come in depressed. There's a high rate of serious depression, even suicide, in the illness. Often, people who are very even-tempered can become irritable unexpectedly and unpredictably. But these are fortunately very treatable symptoms. The cognitive changes are not. They are really organization and information handling. It's not as much of a memory problem as, say, something like Alzheimer's that people are more familiar with. But it certainly can create difficulties at home and at work, particularly with complex tasks.
Melanie: What treatments are available for Huntington's disease? If you start to notice some of these symptoms, cognitive disorders, movement disorders, can there be something done to slow the progression, or is it symptom management? What kinds of treatments are available?
Dr. Harrison: Currently, what we have available are treatments for symptom management. Fortunately, we can generally very effectively management the mood or psychiatric symptoms using the same treatments that are successful in other settings—the same antidepressants that are useful in a wide range of conditions are helpful here, for example, and similarly for some of the other symptoms. We can also help suppress the extra movements if they're causing problems. Sometimes they're very visible, but not limiting the person. But we do have treatments, and the only FDA-approved treatment for Huntington's disease is actually directed at the chorea component of the disease. For the cognitive, we don't have specific treatments, but there's a lot of workaround and strategies that we work closely with physical and occupational therapy to help people manage effectively in spite of some of these limitations. What we don't have yet is neuroprotective diseases therapies, or what we call disease-modifying therapies, which could slow the progression of the disease. But there's very active research going on worldwide into promising treatments that would actually give us the ability to slow down or, one day, we hope, prevent the development of the symptoms.
Melanie: Tell us a little bit about what UVA does to help patients with Huntington's disease, Dr. Harrison. Are the family members involved? Because I would imagine this is a difficult disease both for the patient and for the family members involved.
Dr. Harrison: Well, that's absolutely correct. Family members are very much involved. It's really a team approach between the professional team and the affected individual and their family or caregivers. We have a monthly clinic with participation by , myself and a nurse practitioner and another neurologist. We now recently have a psychiatrist who has joined us. There's a physical therapist, occupational therapist, speech language pathologist. Our genetic counselor is there, and we have neuropsychology services available as well, for both counselling and for cognitive assessments. In the monthly clinic, the patient and family arrive, and they're seen by each of the professionals in the course of a morning or afternoon visit. They help assess where they are functioning, what they need for safety, what medications they may need to help manage their symptoms and to assist them with planning and resource utilization. And I've neglected to mention, a very important member is our social worker, who works with families before and after clinic to get the kind of help they need.We have all these in one visit at one place. I'm fortunate to have a team that many of them have been working together close to 15 years doing this now.
Melanie: It sounds like a very multidisciplinary approach and really very complementary and would help the families. Give us your best advice for patients with Huntington's disease or someone that they love might be suffering from this disease.
Dr. Harrison: Well, I think the most important advice I would give you would be to see someone who has experience with Huntington's disease. Although, there are estimates of, as you mentioned, close to 200,000 people with or at risk for Huntington's disease, it's still not a disorder that most physicians are familiar with, and certainly not in terms of the day-to-day management. So I think it's very important to get advice from someone who has specialized experience with Huntington's disease. And many movement disorders physicians are in a position to offer good advice. There are centers around the country with specialized teams, both the HDSA centers and other specialty clinics. I think that there are more and more available to patients and families, and the HDSA also has a network of support groups which can be critically important, particularly for the caregivers. And then, I think working with the team and partnering with the local physicians to make use of that expertise can make it a big difference in how well people manage with the disorder.
Melanie: Thank you so much, Dr. Madeline Harrison, the Director of the UVA Huntington's Disease Program. For more information, you can go to uvahealth.com. You're listening to UVA Health System radio. I'm Melanie Cole. Have a great day.
What Are the Signs of Huntington’s Disease?
Melanie Cole (Host): Huntington's disease is one of the most common genetic disorders in the United States affecting more than 250,000 Americans. My guest is Dr. Madeline Harrison. She is the Director of the UVA Huntington's Disease Program, recognized as a center of excellence by the Huntington's Disease Society of America. Welcome to the show, Dr. Harrison.
Tell us, what is Huntington's disease?
Dr. Madeline Harrison (Guest): Huntington's disease is a hereditary neurodegenerative disorder, meaning that it is inherited and causes loss of brain cells that results in a number of symptoms that progress over time.
Melanie: What age do you typically see the onset?
Dr. Harrison: It's more variable than we originally thought, but most typically, the symptoms become apparent somewhere between the ages of 35 and 55.
Melanie: So what causes it? Is there a genetic component? Are there certain risk factors people can be aware of?
Dr. Harrison: It is a genetic disorder, so that the principal risk factor is coming from a family with Huntington's disease. When they've identified the specific change in the gene that causes the disorder, it's a specific expansion, and it's passed from parent to child so that each child of an affected individual has a 50 percent chance of inheriting the genes.
Melanie: So if a parent had that, do you recommend a genetic test? Do they need a genetic test to say whether they have that gene or not?
Dr. Harrison: Well, the genetic test is highly specific and will certainly indicate if they have the genes. About 95 percent of the time, the mutation is very specific and has specific features. That's called a CAG repeat expansion. There's a certain of repeat sequences that will result in the disease. Deciding to have genetic testing is a very individual decision, because you have the genes on birth. But the symptoms may not appear into midlife, as we discussed. So, for diagnostic purposes, it's very helpful. But the clinical symptoms are what actually indicate that the disease has begun.
Melanie: What are the symptoms of Huntington's disease? When do they appear? What do you notice?
Dr. Harrison: It's variable, but there are three areas that are affected in the majority of the individuals at some point along the course of the disease. Often, the first changes are subtle changes in cognitive efficiency—ability to organize information. Sometimes, there are mood and personality changes early on. The most characteristic symptoms are changes in motor function. People develop extra involuntary movement called chorea. It's the most common. And also, difficulty coordinating movements necessary for simple tasks, for walking, for performing coordinated tasks with your hands. Those are the symptoms that are the most definite indications that the disease has started.
Melanie: These are movement disorders. What about cognitive disorders, or psychiatric? Are there any others that go along with these?
Dr. Harrison: Yes, there certainly are. There's a very high incidence of psychiatric disorders that can really take any form. Most common are what we call mood disorders. People maybe come in depressed. There's a high rate of serious depression, even suicide, in the illness. Often, people who are very even-tempered can become irritable unexpectedly and unpredictably. But these are fortunately very treatable symptoms. The cognitive changes are not. They are really organization and information handling. It's not as much of a memory problem as, say, something like Alzheimer's that people are more familiar with. But it certainly can create difficulties at home and at work, particularly with complex tasks.
Melanie: What treatments are available for Huntington's disease? If you start to notice some of these symptoms, cognitive disorders, movement disorders, can there be something done to slow the progression, or is it symptom management? What kinds of treatments are available?
Dr. Harrison: Currently, what we have available are treatments for symptom management. Fortunately, we can generally very effectively management the mood or psychiatric symptoms using the same treatments that are successful in other settings—the same antidepressants that are useful in a wide range of conditions are helpful here, for example, and similarly for some of the other symptoms. We can also help suppress the extra movements if they're causing problems. Sometimes they're very visible, but not limiting the person. But we do have treatments, and the only FDA-approved treatment for Huntington's disease is actually directed at the chorea component of the disease. For the cognitive, we don't have specific treatments, but there's a lot of workaround and strategies that we work closely with physical and occupational therapy to help people manage effectively in spite of some of these limitations. What we don't have yet is neuroprotective diseases therapies, or what we call disease-modifying therapies, which could slow the progression of the disease. But there's very active research going on worldwide into promising treatments that would actually give us the ability to slow down or, one day, we hope, prevent the development of the symptoms.
Melanie: Tell us a little bit about what UVA does to help patients with Huntington's disease, Dr. Harrison. Are the family members involved? Because I would imagine this is a difficult disease both for the patient and for the family members involved.
Dr. Harrison: Well, that's absolutely correct. Family members are very much involved. It's really a team approach between the professional team and the affected individual and their family or caregivers. We have a monthly clinic with participation by , myself and a nurse practitioner and another neurologist. We now recently have a psychiatrist who has joined us. There's a physical therapist, occupational therapist, speech language pathologist. Our genetic counselor is there, and we have neuropsychology services available as well, for both counselling and for cognitive assessments. In the monthly clinic, the patient and family arrive, and they're seen by each of the professionals in the course of a morning or afternoon visit. They help assess where they are functioning, what they need for safety, what medications they may need to help manage their symptoms and to assist them with planning and resource utilization. And I've neglected to mention, a very important member is our social worker, who works with families before and after clinic to get the kind of help they need.We have all these in one visit at one place. I'm fortunate to have a team that many of them have been working together close to 15 years doing this now.
Melanie: It sounds like a very multidisciplinary approach and really very complementary and would help the families. Give us your best advice for patients with Huntington's disease or someone that they love might be suffering from this disease.
Dr. Harrison: Well, I think the most important advice I would give you would be to see someone who has experience with Huntington's disease. Although, there are estimates of, as you mentioned, close to 200,000 people with or at risk for Huntington's disease, it's still not a disorder that most physicians are familiar with, and certainly not in terms of the day-to-day management. So I think it's very important to get advice from someone who has specialized experience with Huntington's disease. And many movement disorders physicians are in a position to offer good advice. There are centers around the country with specialized teams, both the HDSA centers and other specialty clinics. I think that there are more and more available to patients and families, and the HDSA also has a network of support groups which can be critically important, particularly for the caregivers. And then, I think working with the team and partnering with the local physicians to make use of that expertise can make it a big difference in how well people manage with the disorder.
Melanie: Thank you so much, Dr. Madeline Harrison, the Director of the UVA Huntington's Disease Program. For more information, you can go to uvahealth.com. You're listening to UVA Health System radio. I'm Melanie Cole. Have a great day.