Huntington’s Disease: Understanding Genetics, Chorea, and Care Planning

When someone is diagnosed with Huntington’s disease, it’s not just a medical label-it’s a life shift. There’s no cure. No magic pill. But there is understanding. And with that, there’s control. For families facing this, the real battle isn’t just against the movements, the memory loss, or the mood swings. It’s against the silence, the confusion, and the lack of a clear path forward.

The Genetics Behind Huntington’s Disease

Huntington’s disease doesn’t come out of nowhere. It’s passed down, gene by gene, like a ticking clock in your DNA. Every child of a parent with HD has a 50% chance of inheriting it. No exceptions. No luck. Just biology.

The culprit is a single gene on chromosome 4 called HTT. Inside this gene, a three-letter code-CAG-is repeated too many times. Normal people have 10 to 26 repeats. If you have 40 or more, you will develop HD. Between 36 and 39? You might, or you might not. And 27 to 35? You won’t have the disease, but your kids could inherit a longer version and be the first in the family to show symptoms.

This isn’t random. The number of repeats tells you a lot. More repeats usually mean earlier symptoms. Someone with 55 repeats might start showing signs in their teens. Someone with 42 might not notice anything until their 40s. And if the mutation comes from the father, it’s more likely to grow longer-sometimes by 10 extra repeats-making juvenile HD more common in sons and daughters who inherit it from their dads.

Genetic testing can tell you if you carry the gene. But it’s not a decision made lightly. Over 70% of people at risk delay testing, even when counseling is available. Why? Because knowing doesn’t change the outcome. It only changes how you live.

Chorea: The Movement That Doesn’t Stop

Chorea is what most people picture when they think of Huntington’s. It’s the dance. The jerks. The sudden, uncontrolled motions that seem to come from nowhere. A hand might twitch while eating. A foot taps while sitting. The head jerks during conversation. These movements aren’t voluntary. They don’t stop when you’re tired. They vanish only in sleep.

Doctors measure chorea using the Unified Huntington’s Disease Rating Scale. A score of 1 means mild, barely noticeable. A score of 4? Constant, full-body flailing. In early stages, chorea is mostly in the fingers and face. Later, it spreads to the arms, legs, torso. Then comes something else: stiffness, slowness, freezing. Chorea fades as the brain loses more cells-but the damage doesn’t.

The root cause? Brain cells in the striatum die off. These are the neurons that help control smooth, intentional movement. When they’re gone, the brain can’t filter out unwanted motion. The result? Your body moves on its own.

There are two FDA-approved drugs for chorea: tetrabenazine and deutetrabenazine. Both reduce movements by about 25-30%. But they come with heavy side effects-depression, drowsiness, even suicidal thoughts. One in five patients can’t tolerate them. A third option, valbenazine, came on the market in 2023. It’s slightly less likely to cause mood problems, but it’s expensive. Many patients skip these drugs entirely because the trade-off feels worse than the chorea.

More Than Movement: The Hidden Symptoms

Huntington’s isn’t just about dancing. It’s about forgetting names, losing focus, struggling to plan a meal. It’s about sudden anger, deep depression, or withdrawing from everyone you love.

Cognitive decline hits early. People start missing appointments. Forgetting to pay bills. Getting lost in familiar places. By the time chorea becomes obvious, the brain has already been changing for years. That’s why some people are diagnosed after a spouse notices they’ve become clumsy with money-or after a child fails a school test they used to ace.

Psychiatric symptoms are just as common. Up to 40% of HD patients have major depression. Suicide rates are 7-10 times higher than in the general population. Irritability, apathy, obsessive thoughts-these can be the first signs. And they’re often misdiagnosed as bipolar disorder or schizophrenia.

That’s why care can’t stop at neurology. You need psychiatrists. Psychologists. Social workers. People who know that a mood swing isn’t just “being difficult”-it’s a symptom of a dying brain.

Care Planning: The Only Real Strategy

No drug can stop HD. But good care planning can change how long you live-and how well you live.

Specialized HD clinics-there are 53 in the U.S.-do something most general neurologists don’t: they plan ahead. They don’t wait for crises. They talk about it early. Within six months of diagnosis, they help patients write advance directives. They set up power of attorney. They discuss where they want to live when they can no longer drive, cook, or dress themselves.

These conversations aren’t easy. But they’re essential. Patients who do this live 2.3 years longer on average. Why? Because they avoid hospital trips for pneumonia, falls, or suicide attempts. They get the right help at the right time.

By year five, most people need help with daily tasks-buttoning shirts, brushing teeth. Occupational therapy helps. By year ten, speech therapy becomes critical. Swallowing weakens. Choking risks rise. A simple diet change-pureed foods, thickened liquids-can prevent aspiration.

By year 15, most need full-time care. Around 89% end up in residential facilities. The cost? Over $125,000 a year. Insurance rarely covers everything. Many families spend $5,000 or more out of pocket each year just for therapies, equipment, or home aides.

The Human Side: Caregivers and Families

The hardest part isn’t the disease. It’s watching someone you love disappear while they’re still here.

Caregivers spend an average of 15 hours a week managing appointments, medications, insurance, and emergencies. Many juggle jobs, kids, and aging parents too. One Reddit user wrote: “I’m 32. My dad has HD. I’m his caregiver. I haven’t had a vacation in five years. I don’t know how to say ‘I need help’ without feeling guilty.”

Physical therapy helps maintain mobility. Aquatic therapy-swimming, water exercises-is 35% more effective than land-based workouts for balance. But only 32% of patients get it, mostly because it’s not covered.

Genetic counseling is available to 95% of at-risk people in specialty centers. But outside those clinics, only 1 in 3 get it. That’s a gap. A dangerous one.

What’s Next? Research and Hope

There’s real progress. In 2023, a drug from Wave Life Sciences reduced the toxic huntingtin protein by 38% in early trials. Roche’s tominersen, after a pause, is being tested again with lower doses. These aren’t cures-but they’re steps.

The FDA now requires new HD drugs to show at least a 3.5-point improvement on the UHDRS motor scale. That’s a high bar. But it means only real benefits will get approved.

Still, even if a gene therapy works tomorrow, it won’t help the 40,000 Americans living with HD right now. For them, the best medicine isn’t in a pill. It’s in a plan.

What You Can Do

If you or someone you love has HD:

• Get connected to a Huntington’s Disease Society of America Center of Excellence. They coordinate care. They know the resources.
• Start care planning now-even if symptoms are mild. Write down wishes for care, finances, and end-of-life.
• Find a therapist who understands HD. Depression and anxiety are treatable, even in HD.
• Explore financial aid. Nonprofits like HDSA and the Hereditary Disease Foundation offer grants for therapy, equipment, and respite care.
• Join a support group. You’re not alone. Thousands of families are walking this path.

Questions About Huntington’s Disease

Final Thoughts

Huntington’s disease is brutal. It steals movement, memory, and mood. But it doesn’t have to steal dignity. With the right care plan, people can stay in their homes longer. They can communicate their wishes. They can spend their last years with love, not chaos.

The science is advancing. The treatments are improving. But the heart of care remains the same: knowing when to act, who to call, and how to hold on-not just to life, but to meaning.