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Living with Huntington's Disease

Online Health Chat with Dr. Mayur Pandya

May 31, 2012

Introduction

Cleveland_Clinic_Host: Huntington’s Disease (HD) is a disease that affects the brain and causes unsteady and uncontrollable movements in the hands, feet, and face, as well as mental illness. People who have HD develop abnormal movements that eventually affect activities such as walking, talking, and swallowing. HD is an inherited disease; a parent passes it to his or her child. It is also a progressive disease, meaning it gets worse over time, and movement and everyday activities become increasingly harder. Depending on the patient’s age, he or she may suffer with HD for up to 30 years. The disease is not fatal, but people who have it may die from pneumonia or from injuries due to a fall.

Mayur Pandya, DO, is a staff physician in the Center of Neurological Restoration and the Department of Psychiatry and Psychology, which is located on the main campus of Cleveland Clinic. Dr. Pandya is also an associate director for the adult psychiatry residency training program at Cleveland Clinic. His specialties include anxiety disorders, depression, Huntington's Disease, mood disorder, obsessive-compulsive disorder (OCD), and psychiatric disorders in Parkinson's Disease and Tourette syndrome. He completed his medical degree at Ohio University College of Osteopathic Medicine in Athens, OH, and completed an internship at the Northside Hospital & Heart Institute in St. Petersburg, FL, before coming to Cleveland Clinic to complete residency training.

Diagnosis: Since HD is an inherited condition, the doctor will need to know if anyone else in the family has the disease. The doctor will perform a physical examination, paying close attention to abnormal movements, reflexes, and coordination. In addition, the doctor may order brain imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, and blood tests, to see if there are any diseases that may produce changes similar to HD symptoms.

The HD genetic test is a simple blood test, but the answer may take several weeks. This test is usually done after extensive counseling of the patient and his or her family and after considerable reflection on the part of the patient. In many instances, this counseling should be done by a doctor or genetic counselor that specializes in seeing patients with HD. Likewise, testing of the patient’s family members who are well but who may be at risk for the abnormal gene also is done only after extensive counseling and reflection.

Treatment & Management: There is no cure for HD and no way to halt its progression. Treatments are designed to relieve the symptoms. Tetrabenazine is the only approved medication for the treatment of chorea in HD, although antipsychotic medications may be prescribed off-label to treat the abnormal movements. Antipsychotic drugs may also treat mental symptoms, including hallucinations and abnormal behavior, but have side effects including sleepiness, and less commonly, abnormal movements.

Patients and caregivers can take steps to improve daily activities. For example, it is helpful to keep the patient’s environment as "normal" as possible. It is also physically and mentally beneficial for the patient to exercise regularly.

Proper nutrition is very important because patients with HD may have trouble getting enough calories. The patient may need to eat several times a day. For patients with HD who have trouble eating and swallowing, the caregiver can cut the food into smaller bites or puree it to make it easier to swallow. To prevent dehydration (another risk), the patient will need to get enough to drink every day.

Patients and caregivers can also make use of various community resources including home care services, group housing, and institutional care.

Cleveland Clinic's Center for Neurological Restoration is among the first in the world to bring together an interdisciplinary team to offer the latest medical and surgical treatments for patients with neurological and psychiatric disorders.

To make an appointment with Mayur Pandya, DO, or any of the other specialists in our Neurological Institute at Cleveland Clinic, please call 216.636.5860 or call toll-free at 866.588.2264. You can also visit us online at clevelandclinic.org/neurorestoration.

Cleveland_Clinic_Host: Welcome to our Online Health Chat with Cleveland Clinic expert Dr. Mayur Pandya. We are thrilled to have him here today for this chat. Let’s begin with some of your questions.


Genetic counseling/testing

help_me: My family has a history of Huntington’s. I can’t decide whether to get myself tested or not. Are there advantages to knowing, or am I better off not knowing?
Dr__Pandya: The decision to pursue formal genetic testing for HD is a personal one. Some people prefer to know their gene status for the purposes of family planning and other long-term decisions while other people prefer not to know. In either case, scheduling an appointment for genetic counseling is strongly recommended to review the risks and benefits of your decision prior to testing.

day_trader: What are the genetics involved in Huntington’s Disease? My husband, his father, brother, and grandfather all have it. His sister and mother do not. If my husband and I decide to have children, what are their chances of getting the disease?
Dr__Pandya: HD is an autosomal dominant disorder. This means that the abnormal HD gene will be expressed if someone has it (unlike autosomal recessive disorders which require 2 pairs of an abnormal gene - such as cystic fibrosis). There is a 50% chance of a child having the abnormal HD gene if one parent has it. This chance is independent for each child, regardless of gender.

marshall: Is it possible to test positive for HD and never have any manifested symptoms?
Dr__Pandya: HD is the result of an abnormal expansion of a repetitive segment of the huntingtin gene. If the length of the repetitive segment exceeds 40 repeats, then the individual will develop HD. There is a "grey area" between 36-39 repeats where some people may or may not develop HD. The number of repeats is inversely correlated to the age of onset of the involuntary movements (the higher the number of repeats, the younger the onset). If someone has > 40 repeats and lives a full life, they will develop symptoms of HD at some point.

stars: Is it true that Huntington is always inherited? What are the odds of getting it if no known relatives have HD?
Dr__Pandya: HD is 100% inherited. Sometimes families are unaware of the diagnosis as this may have been misdiagnosed as a psychiatric condition, such as schizophrenia, bipolar disorder or dementia. As mentioned earlier, it is also possible that the HD gene "expanded" in a subsequent generation; therefore, it had not clinically manifested in a prior generation.

mann09: Can Huntington’s Disease skip a generation?
Dr__Pandya: HD does not skip generations. If a person does not have HD, it will not reappear in future generations.

in_that_case: My husband is going to be tested. The problem is we keep asking people for advice, and we can't seem to get all of the answers we are looking for. We want to know what kind of insurance we need. Long-term care, life insurance... anything else? Is it better to get it through an employer or pay for it privately? Do we need to get it all taken care of before his first initial consultation appointment? So many questions…any advice? We would greatly appreciate it!
Dr__Pandya: Your questions are common and certainly create anxiety for many people prior to testing. I suggest consultation with a genetic counselor to discuss your situation specifically. We offer genetic counseling services here at Cleveland Clinic. This can be coordinated by calling 216.444.3596.

go_for_it: Is there help available in paying for the cost of HD testing if a family is low income? It would be very difficult to pay for our entire family (husband and three kids)?
Dr__Pandya: I unfortunately am not aware of financial support specifically for genetic testing. This being said, the diagnosis of HD can be made clinically by an experienced movement disorder specialist if symptoms are present. Predictive genetic testing for children under the age of 18 is not recommended unless symptoms are present.


Symptoms and progression

Brandon: Is it common to have psychological symptoms before physical symptoms?
Dr__Pandya: Many people with HD will experience psychiatric or cognitive symptoms before the onset of physical (or motor) symptoms. These initially can range from depression and anxiety to problems with attention and concentration.

gabs: Sometimes my brother seems to be moving more than at other times. Is the chorea constant, or does is seem to come in waves, where it is worse at some times than at other times? Do certain things or events "kick" it off?
Dr__Pandya: Chorea is typically a constant movement, although it is usually irregularly-timed, abrupt, and randomly distributed in different body regions. Any stressor to the body, either physical (such as fatigue/illness) or emotional (such as depression), may temporarily intensify the involuntary movements.

pete409: How young can a person be when symptoms manifest themselves?
Dr__Pandya: People with very high CAG repeats (> 60) may develop symptoms during childhood.

fast_lane: Can anything be done to delay the onset of symptoms or slow progression of symptoms?
Dr__Pandya: There are no definitive recommendations to slow disease progression at this time. However, the effects of a positive attitude, healthy diet, and regular exercise should not be underestimated.

ok: Does nutrition make any difference in regards to HD?
Dr__Pandya: Appropriate nutrition is critical in HD, especially late in the disease when caloric intake can diminish as a result of swallowing difficulties. Consultation with a nutritionist may be very beneficial. There are no definitive studies looking at nutritional effects prior to disease onset, but good nutrition can certainly minimize fatigue and emotional problems.

Public: A friend of mine takes Xenazine® (tetrabenazine) to help control his movements. He said that he feels fatigued and agitated. Are these side effects? If so, is there something else he should be taking?
Dr__Pandya: Xenazine is the only FDA-approved medication for Huntington's chorea. As for his side effects and other options, these should be discussed with his physician.

grubby: I understand that each patient is different, but is there any kind of a general time line as to how long it takes from when motor symptoms start till one is disabled? What are the things to look for? How do I know when it is time for someone (my husband) to give up driving?
Dr__Pandya: As you note, each person’s "timeline" is unique. In general, most people with HD have a 10-30 year progression from the time of diagnosis. The rate of progression or severity of illness cannot be predicted. The decision to restrict driving is often a difficult one as it signals a loss of a person's independence. If you feel there is a concern for safety, a formal driving assessment is recommended. This is typically done by an occupational therapist.

good_idea: Does disease progression follow a similar path in family members?
Dr__Pandya: The nature of the presentation (and progression) may differ from one person to the next. For example, one person may have more psychiatric symptoms, while another may have more chorea or motor symptoms. As for the age of onset, the onset of the disease will typically occur around the same age or sometimes earlier in future generations due to expansion of the abnormal repetitive segment of the HD gene.


Resources and support

thank_you: Are there support groups for children of Huntington’s Disease sufferers?
Dr__Pandya: Huntington's Disease Society of America (HDSA) is a national organization that provides support to patients and families with HD. There are many local HDSA chapters, including the NE Ohio Chapter here in Cleveland. The organization provides excellent support and resources through support groups, education, and raising awareness about HD. For more information, visit http://www.hdsa.org/neohch/index.html

conapps: How do you find specialists in this field?
Dr__Pandya: There are HD specialists all over the country. Here at Cleveland Clinic, we have a comprehensive multidisciplinary clinic comprised of specialists in neurology, psychiatry, genetics, physical therapy, occupational therapy, speech therapy, and hospice and palliative care. For those outside the Cleveland area, the HDSA website is a good resource to locate specialists.

plato: What resources do you have in place to help families deal with the disease, genetic testing, and the waiting for symptoms, if you have tested positive?
Dr__Pandya: Our HD clinic occurs every month on the first Tuesday of the month. At each visit, we assess disease progression, offer genetic counseling services and support for families and caregivers, and discuss need for medications. We also offer opportunities for research study participation for those who have HD.


Research

brady: What’s new in research?
Dr__Pandya: There are hundreds of physicians, researchers, and HD organizations around the world invested in finding a cure for HD. The studies need participants to be successful. Here at Cleveland Clinic, we are part of a multicenter study looking at creatine's effects in slowing down the progression of HD (CREST-E). We also have been a site for PREDICT-HD, which is an observational study. We will also soon be a site for a global study called ENROLL-HD which will be a platform to enroll participants all over the world. This will be open to both patients with HD, as well as those who are at-risk and have not yet been tested, and even family members.

orwig: Are there any studies going on for HD that involve stem cells?
Dr__Pandya: There are people looking into stem cell as a treatment intervention for HD, but this is currently in its infancy and not at the stage where comments about its utility can be made. To stay informed of research studies in HD, HDBuzz and HD Lighthouse are two excellent websites.


Closing

Cleveland_Clinic_Host: I'm sorry to say that our time with Cleveland Clinic expert, Dr. Mayur Pandya is now over. Thank you, Dr. Mayur, for taking your time to answer our questions today about Huntington's Disease.

Dr__Pandya: Thank you for your questions!


More Information

To make an appointment with Mayur Pandya, DO, or any of the other specialists in our Neurological Institute at Cleveland Clinic, please call 216.636.5860 or call toll-free at 866.588.2264. You can also visit us online at clevelandclinic.org/neurorestoration.

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