Huntington’s disease (HD) is caused by a single genetic mutation, yet people with HD can experience vastly different symptoms – from movement issues to emotional struggles. A new study dives into brain connectivity to explore why that might be. Using MRI scans and thinking, movement, and behavioral tests, researchers identified two major clinical patterns and linked them to unique brain wiring signatures. These findings could pave the way toward more personalized HD care, tailored to an individual’s specific brain changes.
Same Cause, Different Routes
HD is caused by a CAG repeat expansion in the HTT gene. You’d think that if the genetic cause is the same, the disease might take the same route for everyone. But that’s not the case. People with HD show an incredible variety of symptoms: one person might struggle with balance and coordination, while another has emotional outbursts or depression, and a third faces memory challenges.
This diversity makes HD tough to understand, like trying to fix a car when each driver reports completely different problems – brakes in one, engine in another, electronics in a third. So scientists have been asking: What’s behind all this variability? A new study takes a close look at how the brain’s wiring – its functional connectivity – might hold the key.
We can think of the brain as a city with neighborhoods (regions) connected by roads (neural pathways). When traffic patterns change – some roads get blocked while others reroute – it can lead to very different commutes. That’s essentially what this study explored: how traffic in the brain changes in people with HD, and how those changes might explain the diverse ways the disease shows up.
Huntington’s disease can be tough to understand because symptoms can vary significantly from person-to-person. Like different people reporting different issues with a car, this can make it tough to treat.
Navigating the Symptom Patterns
To tackle this question, researchers collected lots of data from people with the HD gene. Participants underwent detailed testing: motor assessments (like walking and balance), cognitive evaluations (such as word fluency and mental flexibility), and behavioral surveys capturing mood, anxiety, and motivation. On top of all that, they had brain scans – specifically, structural and functional MRIs.
But how do you make sense of that mountain of data? Enter principal component analysis, or PCA – a mathematical tool that looks for themes in complex information. Imagine PCA as Marie Kondo for data: it finds the few key patterns that “spark the most variation” and tidies up the rest.
The analysis divided the data to uncover two distinct clinical profiles. The first, called the motor-cognitive profile, combined movement problems with thinking difficulties. The second, the behavioral profile, was characterized by mood and motivation issues – things like apathy, depression, and anxiety. It’s as if HD can take two different routes, depending on which brain circuits are most affected.
The analysis divided the data to uncover two distinct clinical profiles. The first, called the motor-cognitive profile, combined movement problems with thinking difficulties. The second, the behavioral profile, was characterized by mood and motivation issues.
Mapping the Motor-Cognitive Profile
Let’s zoom in on the motor-cognitive group. The brain scans revealed a fascinating, and somewhat unexpected, pattern. Certain connections were weaker, particularly between deep brain areas like the dorsal striatum (which includes the caudate and putamen that are brain region that experience the most cell loss in HD) and key regions of the cortex involved in planning and decision-making, like the dorsolateral prefrontal cortex.
This makes sense: if the brain’s “motor headquarters” can’t coordinate with the “executive offices” that plan and control actions, both movement and thinking take a hit. But here’s the twist – some connections in this group were stronger. Specifically, the ventral striatum (especially the nucleus accumbens, a region linked to motivation and reward) showed increased communication with those same executive areas.
Why would some brain pathways go quiet while others get louder? Researchers believe this may be a kind of internal rescue mission. As the usual routes break down, the brain may reroute traffic through better-preserved detours. This could be the brain’s way of compensating – trying to preserve function by strengthening alternate circuits. It’s like a city opening up a side street when the main highway is under construction.
Even more compelling: people with smaller volumes in the caudate and putamen (signs of more degeneration) showed greater activity in these compensating circuits. It’s as if the more damage there was, the harder the surviving systems worked to adapt.
New research suggests that Huntington’s disease could cause the brain to rewire, like a road detour. While connections between some brain cells are shut down, the traffic seems to get re-routed, potentially making other connections stronger.
Mapping the Behavioral Profile
The story was different for the second group – the behavioral profile. These individuals didn’t show the mix of weak and strong connections seen in the motor-cognitive group. Instead, they had a more uniform decrease in connectivity, especially between the putamen and parts of the limbic system – a network crucial for emotion, memory, and social behavior.
Key disrupted connections included links to the perihippocampal gyrus, involved in contextual memory, and the orbitofrontal cortex, a region critical for emotional regulation and reading social cues. This aligns perfectly with the types of symptoms seen in this group: trouble with mood, motivation, and behavior.
It’s as if the communication lines between emotional centers and control centers are down, making it harder for these individuals to manage emotions, maintain motivation, or engage socially. These patterns mirror findings in depression and apathy even outside of HD, strengthening the idea that the behavioral symptoms in HD may stem from similar wiring problems.
By pinpointing where the network disruptions occur, this study adds weight to the idea that HD isn’t just a disease of isolated brain regions – it’s a disease of circuits.
Two people with similar gene mutations might have different symptoms because their brains are rewiring differently. And that opens the door to more personalized care.
Toward Personalized Care
So what does all this mean for people living with HD? It shows us that how the brain is affected – not just how much – matters. Two people with similar gene mutations might have different symptoms because their brains are rewiring differently. And that opens the door to more personalized care.
Imagine using brain scans as a sort of GPS, mapping out which circuits are faltering or compensating. If a patient’s scans show signs of a motor-cognitive profile, care teams might focus on cognitive rehabilitation or motor training. If a behavioral profile is more prominent, mood-focused interventions could take center stage.
This approach could also reshape clinical trials. Rather than testing a drug across all people with HD, or even people with HD at a certain stage, researchers could see if it helps a specific subgroup – say, those with emotional disruptions or those relying heavily on compensatory circuits. That would make it easier to tell if a treatment is really working where it’s needed most.
Of course, there are caveats. The MRI scans in this study weren’t ultra-high-resolution, and the analysis didn’t include people without the HD gene. Plus, the researchers acknowledge that there may be more than two profiles out there; future studies with larger and more diverse samples might uncover even more patterns.
Still, the message is clear: HD is not a one-size-fits-all disease, and treating it shouldn’t be one-size-fits-all either. By listening closely to the brain’s wiring, scientists are getting closer to crafting treatment plans as unique as the people they’re meant to help.
TL;DR Summary
Same gene, different symptoms – HD stems from one mutation but leads to varied issues like movement, mood, or memory problems.
Two main profiles found – Researchers identified motor-cognitive and behavioral symptom patterns.
Motor-cognitive profile – Weakened links between movement and thinking areas, with some stronger “compensating” circuits.
Behavioral profile – Reduced connectivity in emotion and motivation networks, especially involving the limbic system.
Brain wiring shapes symptoms – Differences in circuit disruption may explain why HD looks different in each person.
Toward personalized care – Findings support tailored treatments and trials based on brain connectivity patterns.
We received an update on June 2, 2025 from uniQure about their recent discussions with the US Food and Drug Administration (FDA) regarding the development of AMT-130 – a treatment they’re testing for Huntington’s disease (HD). uniQure announced that they remain aligned with the FDA and have received guidance on next steps, including plans for manufacturing, statistics, and a comparison control group. So what exactly did we learn from this recent update? Let’s get into it!
Laying the Tracks
We’ve been following the development of uniQure’s HTT-lowering drug, AMT-130, from its genesis in the lab, to animal studies just a few years ago, and now through to their ongoing Phase 1/2 clinical trials.
We’ve also written about it quite a bit. To save our regular readers from repetition, we’ll link any HDBuzz newbies to previous news we’ve covered:
HDBuzz has watched the exciting progress of uniQure’s drug AMT-130 from the beginning – from its genesis in the lab, to animal studies, and now through to their ongoing Phase 1/2 clinical trials.
FDA Meetings
On June 2nd, CEO Matt Kapusta shared that uniQure had two milestone meetings, called Type B meetings, with the FDA. These are formal meetings between the regulatory agency and drug companies to discuss development and advancement of a medicine. Any face-to-face meeting with the FDA is a good opportunity for a drug company, because it helps to ensure that they’re moving in a direction that the agency supports.
During these meetings, uniQure aligned with the FDA on a plan for submitting a Biologics Licensing Application (BLA). This is the formal application a drug company puts together to request permission to market a biologic, a type of therapy derived from living organisms, such as proteins, cells, or genetic material. Unlike traditional small-molecule drugs, biologics are typically larger and more complex, and include treatments like antibodies and gene therapies. UniQure’s Chief Medical Officer, Dr. Walid Abi-Saab, shared that the FDA agreed that data collected from their ongoing trials could be used to support a future BLA. In other words, uniQure may not need to run another trial before seeking accelerated approval for AMT-130.
The most exciting part? UniQure shared that their hope is to submit this BLA for accelerated approval during the first quarter of next year – as soon as the end of March, 2026. BUT, that doesn’t mean this is a done deal. The upcoming data, anticipated by the end of September 2025, still has to show that the drug is having the expected effect, or else the FDA won’t approve the BLA.
For serious conditions like HD, which carry a tremendous burden with limited treatment options, regulators may greenlight earlier access to drugs that show potential.
Approval Paths
As HD drugs advance through the clinic, we’ve been hearing hopeful news about “accelerated approval.” But what exactly does that mean, and how does it differ from traditional approval?
First, the easy one – traditional approval. This means that a drug has undergone rigorous testing, is safe and well tolerated, and has improved symptoms or delayed worsening of a disease. Drugs that gain traditional approval have lots and lots of data to support their use, and they are very unlikely to be pulled from the market.
With accelerated approval, a regulatory agency allows a drug to be made available to the general population while the drug is still being tested. There isn’t enough data yet to conclusively say that it’s having the desired effect. However, for serious conditions like HD, which carry a tremendous burden with limited treatment options, regulators may greenlight earlier access to drugs that show potential.
The idea is that the accelerated approval path could help people in need access drugs sooner, in hopes that they will work. But drugs made available through accelerated approval could still be pulled from the market if additional testing suggests that they don’t actually benefit patients. While no one wants to take drugs that don’t work, many people accept the risk of taking drugs that might work, which is why uniQure is exploring the accelerated approval path.
UniQure are on track with the FDA and hopeful about submitting a Biologics Licensing Application by March 2026, which would allow them to sell their HTT-lowering drug for the treatment of Huntington’s disease.
Regulatory milestones
To make sure that uniQure and the FDA are aligned on steps towards a speedy (possible) approval of AMT-130, they talked about a few key points:
Manufacturing
Thinking ahead, the FDA wants to know if uniQure is capable of manufacturing AMT-130 at scale for people with HD, should the data continue to look good. UniQure shared that the FDA agrees they have the manufacturing capabilities and has endorsed their production platform. This streamlines uniQure’s path toward commercial readiness and a future BLA submission.
Statistical Plan
During the meeting, the FDA and uniQure also talked about the type of data they want to see and how those data should be analyzed. Previously, the FDA agreed that positive data for the composite Unified Huntington’s Disease Rating Scale, or cUHDRS, could be used to decide whether the drug is working. They also discussed a biomarker called NfL, which increases as HD progresses. They agreed that if AMT-130 reduces NfL, it could be taken as a positive sign that the treatment is working.
This is exciting news because it sets the bar for what needs to be achieved to have the FDA approve a drug for HD. UniQure’s announcement confirmed that the FDA is still in support of using these metrics to help decide whether an HD drug is working.
They’ve also agreed on exactly what types of statistical tests should be used to analyze the data. It’s great to know that the FDA and uniQure are aligned on the nitty gritty, but we’ll spare you those mathematical details here!
Control Group
Another important point the agency agreed on was which dataset uniQure should use to compare their trial results. While the first cohort included people who received a mock surgery, the ongoing AMT-130 studies don’t include a traditional placebo group of participants who did not receive the drug. Since this a long-term study being conducted over several years, it was instead designed to compare people receiving AMT-130 to participants in a natural history study.
In a natural history study, no drug is given. It’s designed to follow people who have the gene for HD and to observe them as they naturally live and age to see how HD progresses. These types of studies give us a wealth of information.
UniQure were previously comparing AMT-130 recipients to those who participated in the TRACK-HD, TrackOn-HD, and PREDICT-HD studies. They’re now also incorporating data from Enroll-HD – the world’s largest observational study for HD families. The Enroll-HD dataset will be used for the primary analysis, and data from TRACK-HD and TrackOn-HD will be used for additional analysis.
This change was made because the Enroll-HD dataset is significantly larger, at almost 33,000 people enrolled (wow!), many of whom fall into the inclusion criteria for the AMT-130 trials. This gives a better comparator when looking at the data and increases the chances of seeing a stronger effect of AMT-130.
They’ll be presenting this data publicly during the third quarter, so we should have a much better idea of AMT-130’s 3-year effectiveness by the end of September, 2025. After that, they plan to meet again with the FDA in the fourth quarter of 2025, to prepare for submitting their BLA in the first quarter of 2026.
The Track Ahead
On the June 2nd investor call, uniQure gave us a date for when they would stop collecting data to send over to the FDA – June 30. That cutoff will include data from people who were given AMT-130 3 years ago, so it’s quite a long-term follow up.
They also shared that they’ll be presenting this data publicly during the third quarter, so we should have a much better idea of AMT-130’s 3-year effectiveness by the end of September, 2025. After that, they plan to meet again with the FDA in the fourth quarter of 2025, to prepare for submitting their BLA in the first quarter of 2026. At that meeting, uniQure will request that the FDA make their review a priority.
To continue laying the track to reach an HD gene therapy, the data must continue to be positive. In the meantime, we’ll be standing on the platform, waiting to let you know when the whistle blows!
TL;DR Summary
A recent meeting between the FDA and uniQure continues to show alignment
cUHDRS and NfL lowering continue to be agreed upon metrics for success
UniQure got a green light from the FDA on their manufacturing platform
Statistical plans for data analysis were discussed and agreed upon
Enroll-HD will be used as the natural history control group for primary analysis
Next data update – Q3 2025, which will include 3 year follow up data
Q4 2025 meeting with the FDA to discuss accelerated approval
Plan to submit Biologics Licensing Application for accelerated approval in Q1 2026
We’re pleased to announce the 2025 HDBuzz Prize! This year, the HDBuzz Prize is brought to you by the Hereditary Disease Foundation (HDF), who are sponsoring this year’s competition. Training the next generation of passionate Huntington’s disease (HD) researchers is directly in line with the HDF’s mission. The HDF understands the importance of having future key opinion leaders that can communicate their work to the global HD community in easy-to-understand language. They aim to ensure that we continue to have an abundant pipeline of talented researchers focused on HD – something we can all agree is critical for advancing HD research!
What Is The HDBuzz Prize?
The HDBuzz prize is an opportunity for early-career HD researchers to get involved in communicating HD science to the global community, see their work published and shared through our online channels, and win US $200 – woohoo for you!
The prize was designed to diversify the voices that bring you content on HDBuzz. Not every researcher interprets data the same, so having multiple viewpoints represented here helps ensure that our readers are getting HD news content that spans the varied perspectives of the HD field.
Young Huntington’s disease researchers – no need to temper your excitement! YOU could have your writing published on HDBuzz!
Calling All HD Scientists
We’re looking for young scientists with a gift for communicating research news clearly and imaginatively.
The HDBuzz prize is open to anyone with an active involvement in any aspect of Huntington’s disease research. We’re particularly keen on the fresh take that PhD students and postdocs provide and are actively seeking researchers with clinical experience. So if that’s you, hit us up!
Full articles will include a piece of around 1,000 words, suitable for publication by HDBuzz, about a recent HD research paper that we haven’t covered yet.
In addition to the article, full article submissions will contain:
a catchy title
a front-page summary of no more than 100 words
a social media post of no more than 250 characters, including spaces
two in-text image suggestions and a cover photo suggestion
at least one reference to a peer-reviewed article forming the subject of the piece
The HDBuzz prize is an opportunity for early-career HD researchers to get involved in communicating HD science to the global community, see their work published and shared through our online channels, and win US $200 – woohoo for you!
How To Apply
Entrants should submit a short pitch, of ~200 words detailing what they wanted to write about and why they thought it was important for HD families to know about, all in HDBuzz-style language. We will review all of the article pitches to screen ideas and writing styles before inviting full articles to be written. Our goal is to save everyone time! We want HD researchers to be able to spend as much time working on their science.
The closing date for entries for the article pitches is Tuesday 1st July at 5pm Eastern Standard Time.
All entries must be written in English. We regret that entries in other languages will not be considered.
Prizes!
The pitch winners will be announced throughout the Fall (or autumn, if you’re feeling fancy – or just British to be honest) of 2025.
Winning articles will be published on HDBuzz, translated into various languages, and syndicated to dozens of HD community sites worldwide.
Winners will also receive US $200!
Public engagement is important for every scientist’s training, so apart from the cash, this would enhance the CV of any eager young HD researcher.
We’re keen to hear the take of young clinicians who work with people living with Huntington’s disease. So if that’s you: adjust your stethoscopes and listen closely – the 2025 HDBuzz Prize is open!
Tips For Successful Writing
Take a look at several HDBuzz articles before you start, to get a good feel for our tone and style.
If in doubt, simplify.
Assume that your reader is interested in HD and willing to learn, but has no formal scientific training.
Explain anything beyond high-school science, in bite-sized steps. Then go back and explain the high-school science.
Apply metaphor, analogy, humor, and silliness generously.
Remember to explore the limitations of what you’re writing about and try to explain what needs to happen next for it to bring HD treatments closer.
Avoid pictures that contain text for full article submissions, as this causes translation problems.
Avoid studies we’ve already covered, publications with which you’re affiliated, and any pre-print articles.
The Fine Print
The editors’ decision is final and correspondence will not be entered into. By submitting an entry, you are agreeing to allow editing of your article for style and content, and its publication via HDBuzz.net and release under the Creative Commons Attribution-ShareAlike 3.0 Unported License including translation and unlimited syndication. Winners agree to be named at HDBuzz.net. All entries will be scrutinized for plagiarism and disqualified if it is found.
Public engagement is important for every scientist’s training, so apart from the cash, this would enhance the CV of any eager young HD researcher.
Help Us Spread The Word!
Whether you’re a Principal Investigator (that’s ‘head honcho’ in laboratory-speak) or an HD family member, chances are you know a young scientist with a neat turn of phrase and a gift for communication.
If so, please put them in touch with us or send them to this article, so they can think about entering the prize.
So, fellow science nerds – get in touch and get cracking!
May was a month packed with exciting research, and we’ve got the highlights ready for you – no lab coat required! From genetic mysteries to vision changes and dental awareness, researchers uncovered some fascinating stuff about Huntington’s disease (HD) this month. And we heard an exciting clinical trial update from PTC Therapeutics. Buckle up for an abbreviated tour through the latest discoveries that are helping us learn more about HD and getting us closer to a treatment.
Assembly Line Breakdown: Protein Production Problems in Huntington’s Disease
New research put a spotlight on the world of protein production – and how things go a bit haywire in HD. A new study revealed that the mutant huntingtin protein doesn’t just misbehave on its own – it also messes with the cell’s entire protein-making factory.
Imagine a broken part clogging up the assembly line, causing chaos everywhere! In HD, even a little bit of this rogue protein can throw off the cell’s finely tuned quality control systems. The researchers also uncovered a tiny control switch in the HTT gene that might crank up the dysfunction even further. The big idea? Instead of just focusing on the toxic proteins themselves, maybe we can fix the machines they’re jamming up.
New research suggests heart-healthy habits are also good for your brain, as measured by the biomarker NfL that tracks with brain cell health. Older folks who had better cardiovascular health as they aged had less NfL, suggesting keeping your heart healthy is also good for your brain.
What’s Good for Your Heart is Good for Your Brain: New Study Links Cardiovascular Health to Brain Aging
There seems to be a connection between heart health and brain health. A new study revealed that following the American Heart Association’s “Life’s Simple 7” guidelines – like eating well, exercising, and managing blood pressure – not only benefits your heart but also tracks with lower levels of neurofilament light (NfL), a protein that tracks with brain health, can indicate brain cell damage and has become an important biomarker in HD research.
Specifically, participants with better cardiovascular health had significantly lower NfL levels, suggesting less neuronal damage. Over a decade, those with high heart health scores experienced a slower increase in NfL levels compared to those with lower scores. While the study didn’t find a similar connection with another biomarker, total tau , the findings underscore the potential of heart-healthy habits in protecting brain health, especially for those at risk of neurodegenerative diseases like Huntington’s.
Excitement and Anticipation as PTC’s Huntington’s Disease Drug Clears a Major Hurdle to Sprint Home
Perhaps the most exciting update from the month was the buzz-worthy news from the world of HD clinical trials! PTC Therapeutics’ daily pill, votoplam (formerly PTC-518), showed promising results in the Phase 2 PIVOT-HD clinical trial. The trial met its primary goal by effectively lowering levels of the huntingtin protein, a key strategy being explored in the clinic to treat HD. Importantly, votoplam demonstrated a favorable safety profile, with no serious adverse events reported.
Additionally (and certainly most excitingly!), early data suggest potential benefits in slowing disease progression, particularly in individuals with Stage 2 HD, as measured by some biomarkers and clinical assessments. While further analysis is needed, these findings advance hope for a new, convenient potential treatment option for the HD community.
The next steps here are for PTC to dig into the data more, then go over it with their new partner, Novartis. It’s not clear yet if they’ll use data they already have to seek accelerated approval from regulatory agencies or dive into a larger Phase 3 trial for votoplam. We’ll be watching closely and keep you updated as we learn more!
From genetic mysteries to vision changes and dental awareness, researchers uncovered some fascinating stuff about Huntington’s disease (HD) this month.
Navigating the Genetic River: How Tiny Variants Could Shift the Course of Huntington’s Disease
New work this month took us on a journey down the genetic river of the HD gene. Researchers discovered that tiny changes – like missing or duplicated genetic “dams” in the DNA sequence – can dramatically alter the river’s flow, potentially shifting the onset of HD symptoms by over a decade. These rare variations, known as Loss of Interruption (LOI) variants, affect the stability of the CAG and CCG repeat regions in the HTT gene.
While these genetic quirks are uncommon, they offer valuable insights into why some individuals develop HD earlier than expected, especially those in the diagnostic “gray zone” with intermediate repeat lengths between 27 and 29 CAGs. This research underscores the complexity of HD genetics and highlights the importance of understanding these subtle variations as we navigate toward more precise diagnostics and treatments.
Red Light, Green Light: How Huntington’s Disease Influences Genetic Traffic Lights
This month we took us on a ride through the genetic intersections of HD, revealing how the disease throws the cellular traffic system into chaos. Normally, our genes are regulated by epigenetic “traffic lights” – chemical signals that tell genes when to stop (red) or go (green).
In HD, these signals malfunction, causing some genes, especially those involved in early brain development, to get stuck on green when they should be red. This misregulation leads to neurons acting like they’re in a perpetual developmental phase, potentially accelerating brain aging and dysfunction.
The usual molecular “traffic cops,” PRC1 and PRC2, which are supposed to help maintain order, seem to be overwhelmed or replaced by less effective versions, making the problem worse. Understanding this epigenetic traffic jam opens new avenues for potential therapies aimed at restoring proper gene regulation and slowing disease progression.
Researchers found that subtle changes in visual memory may appear before classic Huntington’s disease symptoms. It’s not just about changes in eyesight – it’s how the brain processes what is seen, and early clues could help with diagnosis and daily support.
Unlocking the Mind’s Eye: How Huntington’s Disease Changes How We See and Process the World
Another study zoomed in on something we often take for granted: how our brains make sense of what we see. For people with HD, recognizing faces, reading a book, or even navigating a grocery store can get surprisingly tricky. Researchers in Spain ran a bunch of clever visual thinking tests, like drawing shapes from memory, to find out when and how these challenges pop up.
The plot twist? Subtle changes in visual memory might show up even before classic HD symptoms appear. This offers a chance for earlier diagnosis and better planning. Because it’s not just about what the eyes see, but how the brain interprets it. Spotting these shifts early could encourage people to use helpful visual reminders that could make a big difference in daily life.
DNA Repair in Huntington’s Disease: Not Up to Par?
More and more evidence is showing that HD influences DNA repair. A new study from Dr. Ray Truant’s team shows that expanded HTT slows production of a key DNA repair molecule called PAR, which usually flags damaged DNA. Without enough PAR, HD cells let damage pile up, possibly fueling the expansion of those nefarious CAG repeats that drive the disease.
The good news? Fixing the fixer might help. Getting HD cells up to par – by increasing PAR – could give cells the repair boost they need to fight back against disease progression. It’s early days, but this glitch in the repair crew might just point to a new way to keep Huntington’s in check.
Perhaps the most exciting update from the month was the buzz-worthy news from the world of HD clinical trials! PTC Therapeutics’ daily pill, votoplam (formerly PTC-518), showed promising results in the Phase 2 PIVOT-HD clinical trial.
Mind Your Mouth: Huntington’s Disease and Oral Health
HD can wreak havoc on oral health. A recent review reveals that people with HD face many dental challenges: movement issues make brushing a chore, dietary changes favor cavity-causing foods, and many dentists are unprepared for the unique needs of HD patients. Add in anxiety, financial strain, and mobility hurdles, and it’s no wonder dental care often gets sidelined.
But there’s hope! The article emphasizes that with the right knowledge and preparation, dental professionals can make a significant difference. By understanding HD’s impact and adapting care strategies, they can help patients maintain healthier smiles and improve their quality of life. The fact that this review was published is evidence that the word about HD is spreading amongst the dental community. So, let’s give a shout-out to those dentists ready to tackle HD’s dental dilemmas head-on – because everyone deserves a reason to smile.
Seeking dental care and adhering to recommended routines is tough for lots of folks, even under the best of circumstances. Throw Huntington’s disease (HD) into the mix, and oral health can get even tougher. A recently published review paper in the journal Special Care in Dentistry covers some of the challenges faced by HD families with keeping our chompers healthy. It also discusses research into oral health in HD, and recommends strategies for dental professionals caring for people with HD. When specialists care enough to prepare and publish a formal article about improving quality of life through oral health for people with HD, we think that’s worth mouthing off about!
It may be helpful for Huntington’s disease families to “brush up” on what special precautions, procedures, and work-arounds are available when it comes to dental care. Diana Polekhina
Barriers to Dental Care
The authors of this paper, Dr. Hanad Duble and Dr. Aviv Ouanounou, describe HD for their readers (dentists) who are unfamiliar with the disease, and outline common barriers to accessing dental care for people with HD. Some of these may seem obvious to the HDBuzz readers – those who are affected by HD, live with someone who is symptomatic, or are tuned into HD research. Here are some of the main barriers the authors identify:
Fear: A lot of folks dread the dentist, and that anxiety can be exacerbated for people with HD. Shame and stigma can compound this as well.
Finances: HD can create a financial strain for many reasons, including job loss and accompanying lack of insurance, and it can be hard to financially prioritize dental care.
Mobility and motivation: Behavioral symptoms and movement challenges can make it difficult to get to a dental office, keep appointments, or maintain a routine at home.
Oral changes: Involuntary movement (chorea), stiffness, or muscle weakness make it more challenging for dentists to examine, clean, and operate on the mouth.
Lack of training: Many dental professionals don’t have experience working with people with HD (this article is a step towards providing guidelines!)
There may be other barriers to proper oral care for individuals from HD families – no one experiences HD in the same way. The vast majority of dentists are unlikely to see more than a few HD patients over a lifetime of practice, so it’s encouraging when knowledgeable professionals write about the challenges of HD for their peers.
Seeking dental care and adhering to recommended routines is tough for lots of folks, even under the best of circumstances. Throw Huntington’s disease (HD) into the mix, and oral health can get even tougher.
Common Oral Health Challenges
The authors also lay out common oral challenges for people with HD and how they affect dental care. They drew from their own practice as well as from the scientific literature, including clinical studies, case reports, and past reviews. It’s a lot to sink your teeth into, but important to know what might arise as symptoms progress.
Cavities (caries) and gum disease:
Chorea: movements of the body, face, and tongue can make it more difficult for a person with HD or their companion to brush and floss, and dentists may have trouble using specialized tools or finding safe and comfortable positions.
Diet:a person’s eating habits might change to accommodate chorea, difficulty with chewing and swallowing, or weight loss. Softer foods, liquids, higher frequency of meals, and foods with more sugar and carbs can affect tooth and mouth health.
Dysphagia: the medical term for difficulty swallowing, which is very common in HD. This can mean that more food gets stuck in the teeth, mouth, and throat.
Mood and motivation: symptoms like apathy and depression can make it more difficult to prioritize oral care at home or make dental appointments.
Medication challenges
Side effects: some of the drugs used to manage HD symptoms, like antidepressants and mood stabilizers, can cause dry mouth, drooling, or increase the risk of mouth infections. Other medications can cause increased likelihood of fainting or dizziness, which is important for a dentist or hygienist to be aware of when using a reclining chair or choosing anesthetics.
Drug-drug interactions: some medications prescribed to treat dental pain, anxiety, and infections can interact negatively with common treatments for HD.
Anesthesia: general anesthesia can lead to complications, especially with chronic disease, so specialists may choose sedation over “putting someone under.”
Dysarthria (difficulty speaking)
Home care and appointments: also known as dysarthria, when someone has a hard time communicating, it can be difficult to let a loved one or dentist know what is causing them pain or discomfort on a daily basis or during an appointment.
Placement of devices or prosthetics: muscle weakness in the face and tongue that causes difficulty with speech can also make it difficult to keep safety devices or prosthetics (false teeth) in place.
Consent: some people might want to request or deny aspects of routine care or invasive procedures, and communication challenges can make these discussions slower or impossible.
There are lots of challenges when it comes to dental care for people with Huntington’s disease from both sides of the chair. Folks with HD may be struggling with fear or mobility and motivation issues. Dentists may have a lack of training when it comes to treating people with HD. amirhosein esmaeili
Strategies for dental care
This paper provides recommendations for dentists who are treating people with HD, based on a thorough understanding of published evidence, as well as the authors’ years of collective experience in this field. It may be helpful for families to “brush up” on what special precautions, procedures, and work-arounds are available.
Compassion and presence (duh!): the authors urge dentists not to discriminate against HD patients, and they note that a good rapport, emotional support, and care partner involvement can be especially helpful to ease anxiety and motivate a routine.
Planning for dental care: making a longer-term plan for dental care early on can be helpful to discuss concerns and wishes around diet, role of a care partner, and how to approach daily care or procedures when communication becomes more difficult.
Extra prevention:
The paper recommends that dentists assign an oral hygiene plan and emphasize caregiver involvement and education.
Dentists might consider fluoride or varnish treatments for adults, though they are normally given to kids.
Consuming products with xylitol (a sugar substitute in some types of candy, mouthwash, and toothpaste) can be good for teeth
Mouthguards can relieve grinding pressure due to chorea.
More frequent visits (every 3 or 6 months) if possible may help to keep teeth healthier and adjust care plans as needed.
Comfort and safety:
If a person is taking medications that cause a sudden drop in blood pressure when sitting or standing, the authors recommend avoiding reclining the dental chair past 45 degrees, and not sitting them up too fast.
Pain control: choosing acetaminophen (paracetamol) over ibuprofen is safer for those taking SSRIs.
Dentists can consider using medications that keep the patient awake but relaxed to minimize pain or control chorea for long appointments or procedures.
Dental offices might have (or may be able to order) special chairs, restraints, biting devices, or pillows that help to keep someone comfortable and stable and their mouth positioned safely during an exam, cleaning, or procedure.
Less invasive care:
Brushing/flossing alternatives exist to make care easier, like water flossers, floss picks, or different types of brushes.
Preventing damage: if someone with HD has many small cavities that might require a lot of fillings, the authors recommend that dentists consider painting teeth with Silver Diamine Fluoride, which can kill bacteria and stop existing cavities from worsening.
Filling material: there are different substances that dentists use to fill cavities. One recommendation in this paper for treating people with HD is the use of a filling made of Glass Ionomer (GI). This is often used on baby teeth, or as a temporary solution in adults. It doesn’t last many decades the way a metal or composite filling can, but it is easier to apply and releases fluoride.
Extra care and planning early on can help delay the need for tough conversations and complex procedures later.
Lots to chew on
First and foremost, the existence of this publication is encouraging. It’s a new reference that consolidates information and practical advice, with the goal of helping professionals better understand HD-specialized dentistry. However, we are not presenting medical advice! Please consult with your own dentist before embarking on any new oral health regimen. The more info they have about other aspects of your health and medical history, the better individualized care they can provide.
That said, the authors of this paper stress prevention and early communication. Extra care and planning early on can help delay the need for tough conversations and complex procedures later. They recommend that dentists caring for people with HD consult with each patient’s neurologist, understand the side effects of common HD medications, and provide comfort measures and plans tailored to the individual. You may be able to help jump-start those important conversations and connections.
Above all, we encourage each member of every HD family to take care of their pearly whites and to advocate for their needs – healthier mouths make for louder voices!
