Huntington's disease (chorea)

I’m reaching out because I really need some guidance regarding this rare disease. If anyone has gone through this, could you please share your experiences? I'm looking for info on different therapies, how to deal with the fact that there's currently no cure, what medications are being used, and even recommendations for the best neurology specialists out there...
help

I pulled this snippet from my neurology textbook (K. Poeck, Neurology). For anything else, you might want to dig around online or just wait for someone who actually deals with this disease to chime in.

It’s an autosomal dominant disorder, affecting men and women equally, with a prevalence of about 5 to 10 people per 100,000. If a parent carries the gene, there’s roughly a 50% chance their children will develop the condition.

Symptoms usually start showing up between the ages of 35 and 50. It often kicks off with psychological shifts—things like irritability, loss of impulse control (especially regarding sexual behavior), tendencies toward aggression, or wandering. As the disease progresses, dementia sets in.

Then you see severe motor issues and facial grimacing. Speech can become slurred or hard to understand because the facial muscles and tongue are in constant motion. Eating becomes difficult because of the lack of coordination in those muscles. People also lose manual dexterity and experience involuntary limb movements that get worse while walking.

The progression is steady but comes in jumps, and there’s no such thing as remission. On average, the disease lasts about 12 to 15 years, though many pass away sooner. It's rare for anyone to live past 60. Death usually results from rigidity and the total inability to move joints.

On a CT scan, you might see atrophy of the caudate nucleus and widening of the sulci between brain hemispheres, which are signs of brain atrophy.

There is currently no cure that targets the underlying cause. You can manage the psychological symptoms with neuroleptics, but only temporarily. Hyperkinesia can be calmed using Tiapridex 2 (Tiapridex 2-3 x 200 mg), and butyrophenones like Haldol can be effective too.

Because of how highly penetrant the genetic component is and the generally poor prognosis, individuals with Huntington chorea should really consider not having children...

For differential diagnosis, doctors need to rule out symptomatic chorea, chorea during pregnancy, cerebral neurosyphilis, atherosclerosis, and hepatolenticular degeneration to distinguish them from Huntington chorea.

All in all—it's pretty grim. I am so incredibly sorry if you have to deal with a disease like this in your inner circle...😢

Thanks for the info.
Does anyone else know anything about this or dealt with something similar?

Anonymous said:I’m reaching out because I really need some guidance regarding this rare disease. If anyone has gone through this, could you please share your experiences? I'm looking for info on different therapies, how to deal with the fact that there's currently no cure, what medications are being used, and even recommendations for the best neurology specialists out there...
help

Your question is ancient history at this point. Now, I'm the one asking you to share what you know from living through this disease. .............

Larry Hill5 said:Your question is ancient history at this point. Now, I'm the one asking you to share what you know from living through this disease. .............

I’ve practically memorized every medical paper written on this condition, and since I deal with the reality of it every single day, my only advice is to hang in there and find the strength to hold on until someone finally cracks the code and finds a cure.

copperheron94 said:I’ve practically memorized every medical paper written on this condition, and since I deal with the reality of it every single day, my only advice is to hang in there and find the strength to hold on until someone finally cracks the code and finds a cure.

It doesn't make sense to me. If there are so few people suffering from this, yet it's purely genetic, are we all somehow related?

Larry Hill5 said:It doesn't make sense to me. If there are so few people suffering from this, yet it's purely genetic, are we all somehow related?

What have you all seen out there? At what age did those first subtle signs start showing up? It’s rare, sure, but when it hits a family, isn't it just absolutely devastating?

copperheron94 said:What have you all seen out there? At what age did those first subtle signs start showing up? It’s rare, sure, but when it hits a family, isn't it just absolutely devastating?

Some odd behavioral shifts and tremors started appearing three years ago. We got a medical diagnosis six months back. He’s on Eglonyl now, but I don't see any real improvement—if anything, he just sleeps more. He’s exhausted, lazy, to put it bluntly. He was always such a good person, and he still is, so I don't get how they link this to aggression... who knows what's ahead? The disease surfaced at age 50. How long has this miserable illness been part of your lives? What happens to the kids? Where are you getting treatment? Which specialists or alternative medications should we look into? I read somewhere that if you start treatment early enough, it doesn't have to be quite so fatal. Does anyone know about the CAG triplet count from genetic testing? If you know of anything that actually helps improve quality of life, please let me know.
As a family, we're holding up okay for now, but I haven't slept a single night. I can't even wake up without my mind racing.

Larry Hill5 said:Some odd behavioral shifts and tremors started appearing three years ago. We got a medical diagnosis six months back. He’s on Eglonyl now, but I don't see any real improvement—if anything, he just sleeps more. He’s exhausted, lazy, to put it bluntly. He was always such a good person, and he still is, so I don't get how they link this to aggression... who knows what's ahead? The disease surfaced at age 50. How long has this miserable illness been part of your lives? What happens to the kids? Where are you getting treatment? Which specialists or alternative medications should we look into? I read somewhere that if you start treatment early enough, it doesn't have to be quite so fatal. Does anyone know about the CAG triplet count from genetic testing? If you know of anything that actually helps improve quality of life, please let me know.
As a family, we're holding up okay for now, but I haven't slept a single night. I can't even wake up without my mind racing.

The situation is actually much worse over here; we're seeing more people affected between the ages of 20 and 50, with symptoms often becoming obvious around 30. Because diagnoses come so late, the impact on children has been devastating. As for those CAG repeats, I believe they usually hit 50 for everyone, though I once read about a 13-year-old boy who passed away—what they call juvenile Huntington's. Aside from maintaining a healthy lifestyle—meaning staying away from alcohol and cigarettes—there aren't many specific recommendations out there. They use Haldol to help with the tremors, but it definitely has a sedative effect.

Haldol isn't doing squat, and neither is tetrabenazine... so I'm pinning my hopes on this: