HUNTINGTON’S DISEASE WHAT YOU NEED TO KNOW

by Amy Phariss

For many of us, thinking about age-related cognitive dysfunction means two words: dementia and Alzheimer’s disease. We are familiar with these diagnoses. Many of us love someone living with Alzheimer’s disease. The media often focuses on the latest studies or information regarding treating Alzheimer’s and dementia. We know these words and diagnoses.

In fact, dementia is not a disease at all but an umbrella term including a group of conditions. These conditions typically involve thinking and social symptoms that interfere with daily functioning. Symptoms might also include forgetfulness, limited social skills and memory loss, among others. Dementia may take the form of Alzheimer’s disease, mixed dementia, Lewy Body dementia, frontotemporal dementia or vascular dementia.

Under this umbrella of conditions are also disorders including dementia and other neurological disorders, one of which is Huntington’s disease (HD). One of these disorders is Huntington’s disease (HD). Many of us have never heard of HD; if we have, we know little about the disease or it’s progression. In the United States, HD occurs in about every 1 in 10,000 to 20,000 people. It affects men and women equally and affects people of all ethnicities and backgrounds. As a genetic disorder (explained in the interview below), HD can be passed from parents to children. Roughly 50% of children with parents with HD will inherit the gene, which makes testing and awareness of the symptoms of HD particularly important.

As May is Huntington’s Disease Awareness month, OutreachNC is thrilled to sit down with Dr. Claudia Testa, Founder of the UNC Huntington Disease Program and Professor of Neurology at UNC School of Medicine.

ONC: First, can we talk about what Huntington’s disease is and how it fits into memory and cognitive disorders? Is HD a form of dementia?

HD is a monogenic neurodegenerative disorder with a range of possible movement and neuropsychiatric symptoms, and progressive cognitive changes. Let’s break that down:

Monogenic means all of HD is caused by a specific genetic change.

Neurodegenerative means brain cells (neuro) are lost at rates faster than regular aging (degenerative).Range of symptoms means each person with HD will have their own unique experience with what symptoms they have, and which ones get in their way. Everyone eventually develops progressive motor symptoms and cognitive changes that slowly progress to dementia. Dementia is cognitive change that is serious enough to interfere with a person’s usual day-to-day activities.

So, HD is a form of inherited dementia, with symptoms like extra involuntary movements in addition to the cognitive changes.

Many people are familiar with Alzheimer dementia, which has an outsized impact on memory and language. HD can also impact memory and language processing but has the biggest impact in other areas of cognition such as executive function. Executive function includes multitasking, complex sequencing tasks, motivation, and impulse control.

Movement symptoms include trouble walking, talking, and trouble with involuntary extra movements.

Neuropsychiatric symptoms include mood changes like depression, anxiety, and irritability.

Parkinson disease is an example of a more common neurodegenerative movement disorder, that also has a range of possible movement and non-motor symptoms.

ONC: Huntington’s Disease has a genetic component. Are there environmental factors contributing to the development of this disease?

HD is always caused by a specific genetic change [called a CAG repeat expansion].

HOWEVER, JUST LIKE OTHER NEURODEGENERATIVE DISORDERS, ENVIRONMENTAL AND “LIFESTYLE” FACTORS MAY STRONGLY IMPACT SEVERITY OF SYMPTOMS AND SPEED OF PROGRESSION.

We think of these as things all brains like, and all brains with cognitive disorders really like. Examples are exercise, limiting alcohol, MIND or Mediterranean style diet, social engagement and healthy sleep habits.

ONC: Can you describe the development of the disease, the progression? Are there supports or interventions that can slow the progression of HD?

People usually develop outward symptoms in mid-life. However, there is a very wide span of age of onset. About 10% of people develop symptoms in childhood, and a similar number develop symptoms in their 70s or later. People may notice motor or cognitive symptoms first; everyone develops both eventually. These both slowly worsen over many years. Neuropsychiatric symptoms can develop at any time in the disease course. These symptoms appear to be more variable person to person, and over time. Some of these symptoms may come up and then fade out, while others may be more persistent.

The slow progression of cognitive features and variability of neuropsychiatric symptoms is similar to other neurodegenerative dementias, like Alzheimer’s disease. Right now, the main things that may slow the progression of HD are general brain health interventions like exercise and the MIND or Mediterranean diet.

Because HD is strongly inherited, knowing a parent or grandparent has HD can be a motivator for young adults to make positive brain health choices, like avoiding smoking.

KNOWING THERE ARE POSITIVE STEPS WITH REAL IMPACT THAT PEOPLE WITH HD AND AT-RISK FAMILY MEMBERS CAN TAKE CAN HELP RESTORE A SENSE OF CONTROL AND POSITIVE AGENCY IN THE FACE OF A

PROGRESSIVE COGNITIVE DISORDER. ONC:

When someone is first diagnosed with HD, what are the best first steps to take in terms of treatment?

Figuring out where that individual is in their unique journey with HD is important. Do they have any symptoms? What are their current symptom concerns, if any? Do they have family or friend support? A health care team that has access to information about HD? Do they have prior experience with HD through family, or a lot to learn about this new diagnosis? That process helps identify what the person, their support system, and their health care team need to prioritize in order to maximize everyday quality of life and brain health for that individual.

ONC: In terms of treatment and research, what do we still need to learn about HD? Where are the gaps in knowledge?

There is still a lot to learn about how a change in one gene leads to a neurodegenerative disorder. Also, why do people who have the same genetic variant have such different experiences? For example, people with the same genetic variant start showing outward symptoms of HD in their 30s, 40s, 50s, or 60s. Why such a large spread? And how can we leverage that to push everybody’s start of symptoms later and later?

We also do not fully understand what the huntingtin protein does. This is the protein that is altered by the genetic mutation that causes HD. Understanding normal huntingtin functions helps researchers with new therapeutics design, especially disease modifying agents.

On a pragmatic level, we don’t fully understand the barriers to health care that families impacted by HD face. Are people going without a diagnosis? Do they live in an area without neurologic care or genetic counseling access?

WE KNOW THAT AT LEAST 60% OF PEOPLE WITH HD ARE NOT BEING SEEN IN HDSPECIALTY CLINICS AND ARE LIKELY NOT UNDER ANY KIND OF NEUROLOGY OR MENTAL HEALTH CARE.

How can we get them the symptomatic care we know works now, and the cures of the future?

ONC: Three of the disease’s most troubling symptoms include chorea (involuntary movements), irritability and obsessive-compulsive thoughts and actions. Can you speak more about the neuropsychiatric symptoms of HD?

There are several possible neuropsychiatric symptoms in HD. Every person with HD is impacted in their own way and is very unlikely to experience all the possible neuropsychiatric symptoms themselves, some are more common. Irritability can be corrosive. It’s difficult as loved ones react to the irritability, but then the person with HD quickly recovers, or when something small generates an out of proportion reaction.

No one likes to be in pain. In fact, I have spent the past 20+ years helping people get out of pain. The most common question I hear is “How can I get this pain to go away?” The answer to this is simple. We first need to know Why you are hurting. Then we can figure out how to stop the pain. So, why are you hurting? There are many different reasons for pain to occur in our bodies. Pain can be due to a problem in the Muscles, Joints, Tendons, Organs or Nerves. It can also be due to Medication, Psychological reasons, or Nutrition people impacted by HD. In addition to the international HD Youth Organization, HDBuzz, and Huntington Study Group, and national Huntington Disease Society of America and Help4HD, North Carolinians have unique support through the nonprofit HD Reach. You are not alone!

MANY HEALTH CARE PROVIDERS ARE FAMILIAR WITH DEPRESSION, ANXIETY, OR OCD SYMPTOMS BUT ARE NOT TRAINED TO ASK ABOUT IRRITABILITY, SO THIS MAY GO UNTREATED.

One hopeful thing about neuropsychiatric symptoms in HD is that there are many treatment options – this is the area where we have the most to offer, can do the most to alleviate symptoms.

ONC: What are the most recent, cutting-edge treatment options for HD? Are there any trials currently ongoing that may lead to better understanding of HD and possible treatment options?

There are several exciting trials underway. One set of trials is looking at a medication to help cognitive symptoms in HD. If this medication works, it would be a unique opportunity to specifically support cognition in HD. [Disclosure: UNC is a site for these trials – these are the Sage Pharmaceutical trials DIMENSION and SURVEYOR].

Many health care professionals diagnose pain by Special Tests. During these tests, your practitioner will use their hands to push, pull and twist the areas that are causing you pain. These tests are very useful to find what structure is causing you pain. If you place stress on a structure and it increases your pain, it is likely that structure is contributing to your symptoms. Although helpful, many of these special tests are only 60-80% accurate. While this may look good at first, changing the way the question is framed will show that this also means they are 20-40% inaccurate. Misdiagnosis of pain can be very costly. At best it keeps you in pain longer, while in other cases it can allow symptoms to intensify. When you are dealing with pain, missing your favorite activities and sleepless nights… you want to be as accurate as possible!

Other trials are focused on disease modifying agents. These potential therapeutics are designed to slow down the disease process. Different types of agents are being used to target the mutated RNA and prevent brain cells from making mutated huntingtin protein. This is the current cutting edge: directly targeting the genetic cause of HD, ONC: What does support for HD look like? What can a caregiver or loved one do to help someone with a HD diagnosis have a happy, healthy life?

Fortunately, there are a lot of resources out there for

The addition of Diagnostic Imaging in Physical Therapy has revolutionized the way pain is addressed. By utilizing Diagnostic Imaging, PT’s are now able to look inside you and diagnose your pain with over 98% accuracy. That means that we can find the real problem, or problems, and address them from the beginning. No more trial and error. No more “try this for a few months and if it doesn’t get any better we will try to get an MRI”. With the addition of Diagnostic imaging, your Physical Therapist can now say “From my evaluation it looks like you have a problem in ____. We are going to do a Diagnostic Ultrasound and confirm this and fully check your joint.” In a matter of a few days, we can have your test performed, results given to you and a new, more comprehensive plan to improve your pain.

CAREGIVERS AND LOVED ONES CAN LEARN ABOUT HD, CONTINUE TO RECOGNIZE THE PERSON INSIDE THE BRAIN DISEASE, AND MOST IMPORTANTLY TAKE CARE OF THEMSELVES SO THEY HAVE THE ENERGY TO SHOW UP FOR THE PERSON WITH HD.

Diagnostic imaging in physical therapy includes:

1. Musculoskeletal Ultrasound (MSKUS)

ONC: Finally, how can we all protect our memory and cognitive health? Even if we can’t prevent genetic disease entirely, what can we do to strengthen our cognitive function as we age and give ourselves the best possible brain health outcomes?

Thankfully, all brains like the same things! Cognitive health can be a shared family project that benefits people with inherited dementias and their family members too. The examples I spoke about above (exercise, limiting alcohol, MIND or Mediterranean style diet, social engagement) are great for anyone concerned about brain health. It’s never too late (or too early) to start giving our brains what they love.

ONC thanks Dr. Testa for her insight and knowledge regarding Huntington’s Disease. We also thank Latorius Adams, a frequent contributor to ONC, who currently works with Dr. Testa as the Family Support Specialist for the UNC Huntington Disease Program. Ms. Adams’ commitment to providing information and support is invaluable for our readers and the community.

MSKUS is a safe, non-invasive, and painless diagnostic tool. It is used to diagnose structures such as tendons, muscles, bursas, ligaments, nerve entrapment/pinching and joint structure changes. Like a video, MSKUS captures real-time images of body structures and can assess a joint/area while it moves. This feature is especially useful as many times pain does not occur at rest, only with movement.

Friday Flicks

At One Medical Seniors, we believe in building strong relationships with our patients and the local community. We are currently offering in-practice and community events at no cost to keep our senior population healthy and connected.

Come enjoy a film with others in the community and bring your friends and family! We will have refreshments, but feel free to bring popcorn or your favorite movie-watching snack.

May 12, May 19 and May 26

10am

MoRA Practice

4014 Connection Point Blvd., Suite C

Charlotte, NC 28212

May 12 and May 19

1:30pm

Pineville Practice

8332 Pineville Matthews Road, Suite 205

Charlotte, NC 28226

To learn about more about our events, scan the QR Code or visit o oms-clt.eventbrite.com