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Huntington’s Disease Treatment and Diagnosis

Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju
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Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju

Huntington’s disease is an inherited genetic neurodegenerative brain disease with delayed manifestation. That is, the person inherits the mutant gene. But the manifestation of the disease itself can occur in each person at different ages. It means that the carrier or sick parent can have healthy or sick children.

A genetic mutation that affects the huntingtin protein causes HD. This protein plays an important role in the normal functioning of brain cells. The mutation causes the protein to become toxic and accumulate in the brain. This leads to cell death and ultimately to symptoms of HD.

There is currently no cure for Huntington’s disease. But there are treatments available to manage the symptoms and improve life quality. Doctors diagnose HD on the basis of:

  • clinical examination;
  • family history;
  • genetic testing.

Advances in medical research have led to the development of new diagnostic tools. But, we need more research to find effective treatments. Read more about Huntington’s disease diagnosis and healing below.

What is Huntington’s Disease? 

Huntington’s disease is a disease of the nervous system. The appearance of periodic muscle cramps or spasms is typical characteristic. The disease results from the gradual degeneration and death of nerve brain cells. The disease can develop at any age. But the earlier the first symptoms appear, the faster the disease progresses. 

Different specialists treat Huntington’s chorea. All depends on:

  • noted manifestations;
  • prevail in the patient at a particular period of the disease’s progression.

Among the initial manifestations of the disease are sometimes noted:

  • behavioral disorders;
  • decreased sexual desire;
  • gambling addiction;
  • a tendency to excessively expression of emotions;
  • the appearance of delirium;
  • hallucinations. 

This is the domain of psychiatrists.

In other cases, Huntington’s disease,  without proper treatment  appears, specifically with motor disorders – so-called hyperkinesias. These are involuntary movements in various body parts – the face and extremities. Neurologists are responsible for the treatment of these manifestations.

According to our observations, this disease is quite rare. In Caucasoids, the incidence ranges from 3 to 10 cases per 100,000 people. In other races, the incidence is lower – 1 per 1,000,000. At the same time, we must not discount the fact that Europeans may be simply examined more often. And thus, the diagnosis rate of Huntington’s disease is higher among them.

A person can get the disease through the autosomal dominant type. If one parent has the disease, there is a 50% chance of inheriting it. Both sexes can have the condition, but men are slightly more likely to have it. If a child gets the mutation from the father, the severity of the modification may increase. It means that children will develop the disease at an earlier age than the father.

diagnosis huntington disease

Diagnosis of Huntington’s disease

Huntington’s disease is a genetic disease. That is, it is in the genes of the child. Thus, during intrauterine development, you can determine fetal disease. As a rule, the most revealing method of diagnosing Huntington’s disease is determining the number of CAG trinucleotide repeats in the Huntingtin gene:

  • The number of repeats is less than 35. It means 100% confirmation that there is no possibility of developing the disease. 
  • If the number of repeats is greater than 36, it is an absolute fact of the inevitable development of the disease. 

But no confirmation of the exact period of disease manifestation. The fact is that the age of onset of Huntington’s disease is quite individual: 

  • in some people, chorea begins to manifest in childhood;
  • others, and this is the most common group, in adulthood;
  • for others in old age. 

But, because of our knowledge gained in practice, we see more Huntington’s disease therapies. Thus, the longer the polyglutamine tract, the greater the risk of early and severe manifestation. Below we can read more about the diagnosis of Huntington’s disease.  

Prenatal genetic diagnosis

This is an invasive diagnosis of the fetus during intrauterine development. According to our practice, there are several methods of prenatal diagnosis:

  • Chorion biopsy. It is usually performed in the early stages of pregnancy, from 10 to 14 weeks. Doctors take the cells from which the placenta is subsequently formed for analysis. The risk of complications in late pregnancy is 1% and does not exceed the population risk. At this stage, it is very important to take Huntington’s medication. 
  • Placenta-biopsy takes place between the 14th and 20th week of pregnancy. And doctors also take placenta cells for analysis. The risk of complications is 0.3%.
  • Amniocentesis. Doctors perform it between the 15th and 18th weeks of pregnancy. They take the amniotic fluid, and for this analysis, they puncture the bladder. The risk of complications is 0.2%. This method really helps to  cure Huntington’s disease.
  • Cordocentesis takes place from the 20th week until the end of the pregnancy. It involves obtaining blood from the umbilical cord. The risk of complications for continued pregnancy is 3.3%.
  • Fetal tissue biopsy. Doctors perform it from the 14th week. They take fetal tissue cells for analysis. But this is a rare diagnostic method.

Genetic method

Doctors use a genetic method for the diagnosis of Huntington’s disease in children or adults. It involves taking a blood sample from the patient. They determine the number of CAG repeats in each NTT allele. The number of repeats less than 35 is almost an absolute confirmation. This means that the patient will never develop Huntington’s disease. Moreover, you should understand that more than 36 times the number of repeats is not yet a diagnosis. The disease manifestation may be much later than the analysis performed. But it does mean that it (manifestation) will inevitably happen at some point. If there are similar symptoms, we are discussing a different disease.

Differential diagnosis

Differential diagnosis is crucial for definitive diagnosis. Almost always (over 90%), physicians must make a diagnosis based not only on:

  • typical symptoms;
  • family history of at least one blood relative with Huntington’s disease. 

Doctors must have confirmation of genetic testing to cure Huntington’s disease. In all other cases, the condition will be different if the symptoms are similar. It will be Huntington’s cordiform disorder.

It is also worth saying that the presence of the mutant HD gene can also be in some other diseases. For example, one of the most common disorders is sporadic “senile” chorea. People often confuse it with Huntington’s disease when performing therapies.  The following disorders are not accompanied by the increased number of trinucleotide repeats:

  • benign familial chorea;
  • abetalipoproteinemia;
  • Alzheimer’s disease;
  • hereditary ataxias and schizophrenia. 

Thus, not only the presence of the mutant gene and the sign of heredity is very important.

Other instrumental diagnostic methods

Positron emission tomography or functional magnetic resonance imaging detects changes in brain activity. These diagnostic methods can detect changes before the onset of the disease. But they are not specific to Huntington’s disease.

Computed tomography or magnetic resonance imaging is the best for further Huntington’s disease treatment. But they are relevant during the manifestation of the disease. They only show visible brain atrophy that is already present.

huntington's disease cure

Huntington’s Disease Treatment

Treatment for Huntington’s disease is supportive and symptomatic.  In fact, the focus is on eliminating motor symptoms and depression. As symptom correction improves the quality of life of the patient and his/her loved ones. The people closest to the patient, who are relatives and friends, give a great deal of help.

Research aimed at finding a specific treatment is ongoing. Still, researchers continue to look for ways to slow down and stop the progression of the disease. The European Association for the Study of Huntington’s Disease plays a significant role. Scientists are developing medication for Huntington’s disease on a mechanistic level. These include:

  • strategies to reduce the expression of mutant proteins using antisense methods (in clinical trials);
  • autophagy activation. 

Antisense strategies use nucleic acid oligonucleotides. They have complementary sequences to the Huntington’s disease gene. Thus, they reduce the amount of gentingtin synthesized. This strategy is quite rational. Because the main driver of the disease is mutant gentingtin. There are other ways to cure Huntington’s disease. Read about them below.

Physical and occupational therapy

Physical therapy focuses on improving movement and function through:

  • exercise;
  • stretching;
  • other methods. 

The physical therapist can create an individualized exercise program. It will meet the needs and abilities of the patient. It focuses on developing balance, coordination, and muscle strength.

But, occupational therapy focuses on helping patients with daily living:

  • dressing;
  • bathing and cooking. 

An occupational therapist can provide adaptive equipment and techniques. This will help patients perform these tasks more easily and safely.

Nutritional support

Nutritional support is important for Huntington’s disease treatment. Patients may have difficulty eating and maintaining weight due to some factors. These may include:

  • motor symptoms that make swallowing difficult;
  • cognitive and psychiatric symptoms that may affect appetite and food choices.

A balanced diet with adequate nutrition is essential for patients with HD. Because malnutrition can worsen symptoms and lead to other health problems. A nutritionist may recommend:

  • dietary modification;
  • supplements depending on the patient’s needs and preferences.

Huntington’s Medication

To relieve the condition, doctors use symptomatic treatment with Huntington’s medication. Some of the most effective ones we have seen are:

  • Tetrabenazine is a drug specifically designed for symptomatic relief of Huntington’s disease.
  • Antiparkinsonian drugs are appropriate to relieve muscle stiffness.
  • Valproic acid is good for symptomatic relief of myoclonic hyperkinesia.
  • Selective mirtazapine and serotonin reuptake inhibitors are excellent for depression.
  • Atypical antipsychotics are appropriate for developing psychosis or impaired behavior or behavioral assessment.

Stages of Huntington’s disease

Huntington’s disease (HD) is a progressive neurodegenerative disease. It affects nerve cells in the brain. It leads to a gradual loss of motor, cognitive, and mental functions. The symptoms of HD usually progress throughout 10 to 25 years. According to our experience, we have grouped them into different stages. A human needs to have Huntington’s disease therapies starting with the early stage. They are usually based on the severity of the symptoms.

The stages of HD are as follows:

  • Early Stage. This stage is characterized by subtle changes in movement, such as clumsiness, difficulty with balance, and involuntary jerking movements (chorea). Cognitive symptoms may also appear in this stage. It can be difficult with planning, organizing, and problem-solving.
  • Middle Stage. In this stage, motor symptoms become more pronounced. And patients may experience difficulty with walking, speaking, and swallowing. Cognitive and psychiatric symptoms also become more severe, with patients experiencing memory loss, confusion, depression, and anxiety.
  • Late Stage. This stage is usually marked by severe motor and cognitive impairment, including a loss of speaking, walking, and swallowing ability. Patients require full-time care and may experience hallucinations, delusions, and other psychiatric symptoms.

The progression of HD can vary between individuals. It can be affected by several factors, including age of onset, genetic factors, and overall health. Huntington’s disease therapies  focus on managing symptoms and improving the quality of life for patients at each stage of the disease.

If you or a loved one is living with Huntington’s disease, Lone Star Neurology is here to help with Huntington’s medication. Our team of experienced neurologists specializes in diagnosing and treating neurodegenerative disorders. We offer a comprehensive range of services. It includes:

  • genetic counseling;
  • clinical evaluation;
  • personalized treatment plans tailored to each patient’s unique needs.

Our team of caring professionals is dedicated to providing compassionate, patient-centered care. Our state-of-the-art facilities have the latest technology to provide an accurate and timely diagnosis of Huntington’s disease. Contact us today to learn more about our services. So we can help you or your loved one with Huntington’s disease.


  • Can Huntington’s disease be treated?

You can manage its symptoms with medications and therapies. Supportive care is also good for improving the quality of life for patients. But there is currently no cure for Huntington’s disease.

  • What triggers Huntington’s disease?

A genetic mutation in the huntingtin gene causes Huntington’s Disease. Because the body produces a toxic protein that damages brain cells. Humans inherit this mutation in the autosomal dominant type.

  • What are the 5 stages of Huntington’s disease?

The 5 stages of Huntington’s disease are premanifest, early stage, middle stage, late stage, and end-of-life stage. These stages are based on the severity and progression of the disease.

  • How does Huntington’s disease manifest itself?

Dementia and psychiatric disorders are the main symptoms. The patient may experience depression, apathy, irritability, anhedonia, antisocial behavior, and bipolar or schizophrenic-like disorders.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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