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What is Huntington’s Disease?

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

Unveiling its enigmatic layers, this disorder, propelled by a mutation in the HTT gene, orchestrates a symphony of complexities in the brain, disrupting movement, cognition, and emotional harmony. Beyond its rarity and incurability, Huntington’s disease casts individuals into an extraordinary struggle, confronting the gradual erosion of motor control, cognitive prowess, and emotional equilibrium. Embark with us on a unique exploration of the labyrinthine landscape of Huntington’s disease. This blog post ventures into the genetic nuances unravels the cryptic symptoms, and illuminates the cutting-edge strides in research and treatment. Join our odyssey to foster a profound understanding of HD, kindling hope and solutions for those trapped by its tenacious grasp.


Huntington’s Disease: Overview

Huntington’s disease is a complex genetic disorder. It manifests in various symptoms that impact both physical and mental well-being. Recognizing these signs is crucial for early intervention and management.


What Is Huntington’s Disease?

Huntington’s Disease (HD) is a hereditary condition affecting the brain’s nerve cells. It leads to progressive cognitive decline and physical deterioration.

Early identification of symptoms is vital for timely intervention. Common signs include:

  • Involuntary movements (chorea)
  • Cognitive decline
  • Emotional changes
  • Impaired coordination

Identifying symptoms in the early stages enhances the quality of life for individuals with HD. Look out for:

  • Mood swings
  • Difficulty concentrating
  • Unsteady gait
  • Slurred speech

Understanding the underlying mechanisms helps grasp the disease’s progression. HD is characterized by:

  • Genetic mutation (HTT gene)
  • Accumulation of abnormal proteins
  • Neuronal cell death in specific brain areas


Recognizing Huntington’s Disease Symptoms: A Comprehensive Overview

Huntington’s Disease Symptoms

Huntington’s disease is challenging. Recognizing its symptoms empowers individuals to navigate the journey more effectively. Let’s break down the critical aspects of HD symptoms, shedding light on the early signs and the disease’s pathophysiology.

  1. Involuntary Movements (Chorea):
    1. What is it? Uncontrolled, jerky movements.
    2. Symptoms: frequent, unpredictable motions affecting arms, legs, and face.
  2. Cognitive Decline:
    1. What is it? Progressive deterioration in thinking abilities.
    2. Symptoms: memory loss, difficulty focusing, impaired decision-making.
  3. Emotional Changes:
    1. What is it? Shifts in mood and behavior.
    2. Symptoms: depression, anxiety, and irritability.
  4. Impaired Coordination:
    1. What is it? Difficulty controlling movements.
    2. Symptoms: unsteady gait, balance issues.
  5. Mood Swings:
    1. Huntington Disease Early symptoms: early signs affecting emotional well-being.
    2. Symptoms: unexplained mood swings and sudden changes in demeanor.
  6. Difficulty Concentrating:
    1. Early Symptoms: Early Cognitive Challenges.
    2. Symptoms: trouble focusing on tasks; forgetfulness.
  7. Unsteady Gait:
    1. Early Symptoms: Early motor skill issues.
    2. Symptoms: difficulty walking steadily; frequent stumbling.
  8. Slurred Speech:
    1. Huntington Disease Early Symptoms: Early speech-related changes.
    2. Symptoms: difficulty articulating words clearly.


Huntington Disease Pathophysiology: Unveiling the Mechanisms

Understanding the disease’s pathophysiology provides insights into its progression. And it aids in developing effective interventions.

  • Genetic Mutation (HTT Gene):

What is it? Abnormality in the HTT gene.

Role: triggers the production of mutated huntingtin protein.

Huntington Disease Pathophysiology: The genetic basis influencing disease onset.

Impact: Mutation leads to the production of toxic proteins.

  • Accumulation of Abnormal Proteins:

What is it? The buildup of mutated huntingtin protein.

Impact: Disrupts normal cellular function, causing toxicity.

  • Neuronal Cell Death in Specific Brain Areas:

What is it? Progressive loss of nerve cells in specific brain regions.

Consequence: impairs motor and cognitive functions.

Understanding Huntington’s disease symptoms. Especially in the early stages, it is crucial for proactive management. Recognize the signs and delve into the disease’s pathophysiology. Individuals and their support systems can navigate the challenges more effectively. They foster a better quality of life despite the complexities of Huntington’s disease.


Huntington’s Disease Symptoms

Huntington’s disease is a genetic disorder with far-reaching implications. It manifests through a spectrum of symptoms. These symptoms significantly impact various facets of an individual’s life. This exploration aims to delve deeper into the nuanced manifestations of symptoms. It offers insights into their multifaceted nature.

  1. Involuntary Movements (Chorea):
    1. Chorea is the main thing that shows up in Huntington’s disease.
    2. It means unpredictable, involuntary movements in different body parts.
  2. Distinctive Characteristic:
    1. Chorea is the most noticeable thing in Huntington’s disease.
    2. It makes unpredictable movements in the body.
  3. Physical Challenges:
    1. These movements make daily activities harder.
    2. Things like eating or getting dressed become more complex.
  4. Management Strategies:
    1. Managing chorea is essential for a better life with Huntington’s disease.
    2. It might involve medicine, physical therapy, and special techniques for each person.
  5. Understanding Challenges:
    1. Knowing how chorea affects the body is essential.
    2. It helps the people facing it, caregivers, and healthcare professionals to give better support.

Motor Dysfunction

This category focuses on the motor symptoms associated with Huntington’s disease, including impaired coordination, involuntary movements (chorea), and difficulties with motor planning and execution.

Cognitive Impairment

Under this heading, we explore the cognitive symptoms of Huntington’s disease, such as a decline in memory, reasoning abilities, and overall cognitive function, shedding light on the impact on daily life and decision-making.

Emotional and Behavioral Changes

This section delves into the emotional and behavioral aspects of Huntington’s disease, addressing symptoms like mood swings, depression, anxiety, and an altered personality. By examining these changes, we aim to enhance our understanding of the complex mental health challenges faced by individuals affected by the condition.


Recognizing Early Symptoms of Huntington’s Disease

Huntington’s disease presents unique challenges. However, early recognition of Huntington’s disease symptoms is crucial for proactive management. Let’s straightforwardly explore the key indicators to empower individuals and their families.

  1. Involuntary Movements (Chorea):
    1. Description: Unpredictable jerky movements are a hallmark of Huntington’s disease.
    2. Early signs: noticeable fidgeting or twitching in the limbs or face.
    3. Importance: Early identification allows for timely intervention and symptom management.
  2. Cognitive Changes:
    1. Description: Gradual decline in cognitive functions.
    2. Early signs: forgetfulness, difficulty concentrating.
    3. Significance: Recognizing cognitive shifts early enables strategies for daily functioning and planning.
  3. Emotional Swings:
    1. Description: mood swings and heightened emotional responses.
    2. Early signs: unexplained emotional changes, irritability.
    3. Impact: Understanding emotional shifts aids in providing appropriate support.
  4. Motor Skill Challenges:
    1. Description: Impaired coordination affects movements.
    2. Early signs: unsteady gait; difficulties in delicate motor tasks.
    3. Importance: Early recognition informs tailored interventions to address motor challenges.
  5. Speech Changes:
    1. Description: Slurred or hesitant speech.
    2. Early signs: difficulty articulating words clearly.
    3. Significance: Recognizing speech changes early allows communication strategies to be implemented.

Why Early Recognition Matters:

  1. Timely Intervention:
    1. Early identification allows for prompt medical evaluation and intervention.
    2. It enables healthcare professionals to implement strategies to manage Huntington’s disease symptoms effectively.
  2. Quality of Life:
    1. Early recognition facilitates the development of tailored care plans.
    2. Enhances the overall quality of life by addressing specific challenges in the early stages.
  3. Support Systems:
    1. Help healthcare individuals and their families build robust support systems.
    2. Allows for the implementation of emotional and practical support strategies.
  4. Empowerment:
    1. Knowing Huntington disease’s early symptoms empowers individuals to engage in their healthcare.
    2. Encourages a proactive approach to managing the disease.

Recognizing Patterns and Seeking Help:

  1. Observation:
    1. Regularly observe any changes in movement, cognition, emotions, or speech.
    2. Recognize patterns or persistent alterations in behavior.
  2. Consultation:
    1. If early signs are noticed, seek consultation with a neurologist.
    2. Timely professional assessment is crucial for accurate diagnosis and intervention.
  3. Genetic Testing:
    1. Genetic testing is available for individuals with a family history of Huntington’s disease.
    2. Genetic testing provides clarity and allows for early planning and support.
  4. Community Resources:
    1. Access community resources and support groups for individuals and families facing Huntington’s disease.
    2. Shared experiences and information can be valuable in navigating the journey.

Seeking timely professional guidance contributes to a more informed approach to living with HD. It’s a proactive way to improve the quality of life. Recognizing Huntington’s early disease symptoms empowers individuals to manage the disease effectively.


Pathophysiology of Huntington’s Disease

Pathophysiology of Huntington’s Disease

Understanding the underlying mechanisms of Huntington’s disease is essential for grasping its progression. Let’s delve into the critical aspects of pathophysiology in straightforward terms:

  1. Genetic Mutation (HTT Gene):
    1. Description: Abnormality in the HTT gene triggers the onset of Huntington’s disease.
    2. Mechanism: production of mutated huntingtin protein, a key contributor to the disease.
  2. Accumulation of Abnormal Proteins:
    1. Description: Buildup of mutated huntingtin protein in the brain.
    2. Impact: disruption of normal cellular functions, leading to toxicity and cellular damage.
  3. Neuronal Cell Death:
    1. Description: Progressive loss of nerve cells, especially in specific brain regions.
    2. Consequence: impaired motor and cognitive functions due to decreased neural connectivity.
  4. Neuroplasticity and Adaptation:
    1. Role: The brain’s attempt to adapt to the ongoing cellular changes.
    2. Outcome: activation of neuroplasticity, which contributes to the reorganization of neural circuits.
  5. Striatal Atrophy:
    1. Description: Gradual shrinkage of the striatum, a crucial brain structure.
    2. Impact: impaired control over movement and coordination are hallmark features of Huntington’s disease.

Why does pathophysiology matter?

  1. Treatment Approaches:
    1. Understanding Huntington’s disease pathophysiology guides the development of targeted treatments.
    2. Therapies aim to address the genetic and cellular aspects implicated in Huntington’s disease.
  2. Early Detection:
    1. Pathophysiological insights aid in the early detection of cellular changes.
    2. Early detection allows for interventions before substantial damage occurs.
  3. Research and Innovation:
    1. Ongoing research focuses on understanding the intricacies of pathophysiology.
    2. Innovations stem from a more profound comprehension, paving the way for potential breakthroughs.
  4. Holistic Care Strategies:
    1. Holistic care plans are tailored based on specific pathophysiological aspects.
    2. Comprehensive strategies encompass medical, emotional, and lifestyle components.

Understanding the pathophysiology of HD is like creating a roadmap for researchers and those affected. This knowledge also helps individuals with HD make informed decisions about their care.



What is Huntington’s disease? It’s essential to understand Huntington’s disease for proper care. Recognizing early symptoms is crucial. Understanding how the disease works benefits individuals, families, and healthcare professionals. Finding the disease early allows for timely help and targeted treatments. Our goal is to support those facing Huntington’s disease. We want to help them make informed decisions. We hope to assist them in navigating their journey with resilience.



What are the first signs of Huntington’s disease?

It includes involuntary movements, cognitive decline, emotional swings, impaired coordination, and speech difficulties.

How is Huntington’s disease diagnosed?

Diagnosis involves a comprehensive process. It includes clinical assessments and genetic testing to identify the mutated HTT gene. And neurological examinations for confirmation.

Can Huntington’s disease be cured or prevented?

Currently, there is no cure for Huntington’s disease. Management focuses on symptom relief and supportive care. No specific preventive measures exist.

How does Huntington’s disease affect daily life?

The disease progressively impacts motor and cognitive functions. It influences daily activities, relationships, and overall quality of life. Adaptive strategies and support systems play a crucial role in managing these effects.

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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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