Huntington’s disease (HD) is a rare, inherited neurodegenerative disorder that gradually destroys brain cells, leading to severe physical, cognitive, and psychological decline.
It affects nearly 1 in 10,000 people worldwide, and despite decades of research, there has been no cure - until recent breakthroughs in gene therapy have offered new hope.🧬 What Is Huntington’s Disease?
Huntington’s disease is caused by a genetic mutation in a gene located on chromosome 4, known as the HTT gene, which provides instructions for making a protein called huntingtin.
In individuals with HD, a specific DNA sequence - the CAG repeat - is abnormally expanded.
Normally, the CAG segment repeats 10–35 times, but in Huntington’s disease, it repeats 36 or more times.
The longer the repeat, the earlier the onset and more severe the progression of symptoms.
This abnormal huntingtin protein accumulates inside neurons, causing them to malfunction and die - particularly in areas of the brain that control movement, emotion, and cognition, such as the striatum and cortex.
👩⚕️ Who Discovered Huntington’s Disease?
The condition was first described in 1872 by Dr. George Huntington, an American physician, who recognized it as a hereditary disorder that passed down through generations. His observation of involuntary movements (chorea), psychiatric changes, and progressive dementia formed the basis of what we now call Huntington’s disease.
In 1993, an international research consortium identified the HTT gene mutation, confirming the exact genetic cause and paving the way for modern testing and experimental therapies.
🧠 How Does Huntington’s Disease Affect the Brain?
Huntington’s disease primarily damages the basal ganglia, a region of the brain responsible for motor control and coordination.
It also affects the frontal and temporal lobes, which are involved in thinking, planning, and emotional regulation.
As neurons die, brain volume decreases, leading to a range of motor, cognitive, and behavioral changes.
MRI scans of patients with HD often show shrinkage of the striatum, even before symptoms appear - an important diagnostic marker.
🧩 Types of Huntington’s Disease
Huntington’s disease is classified into two main types:
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Adult-Onset Huntington’s Disease
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Most common form, symptoms typically appear between 30 and 50 years old.
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Gradual loss of motor control, personality changes, and cognitive decline.
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Juvenile Huntington’s Disease (JHD)
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Rare form that occurs before age 20.
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Progresses faster, often with stiffness (rigidity) rather than involuntary movements.
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May include seizures and rapid mental decline.
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⚠️ Early Signs and Symptoms
Huntington’s disease develops slowly and often begins subtly.
Symptoms are grouped into three main categories - motor, cognitive, and psychiatric.
1. Motor Symptoms
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Involuntary jerking or writhing movements (chorea)
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Muscle rigidity or dystonia
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Difficulty with balance and coordination
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Impaired speech and swallowing
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Slow or abnormal eye movements
2. Cognitive Symptoms
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Difficulty concentrating or planning
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Memory loss
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Poor judgment and decision-making
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Reduced ability to learn new information
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Slowed thinking
3. Psychiatric & Behavioral Symptoms
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Depression and anxiety
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Irritability and aggression
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Apathy (lack of motivation)
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Obsessive-compulsive behaviors
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Personality changes
Symptoms gradually worsen over 10 -25 years, ultimately leading to complete dependency and, eventually, death - usually from pneumonia, heart failure, or falls.
🧪 How Is Huntington’s Disease Diagnosed?
Diagnosis is based on clinical evaluation, family history, and genetic testing.
1. Neurological Examination
A neurologist looks for hallmark features such as abnormal movements, muscle tone, reflexes, coordination, and eye movements.
2. Psychiatric Assessment
Behavioral and mood changes often appear early; mental health evaluation helps identify emotional symptoms.
3. Genetic Testing
A blood test can confirm HD by analyzing the CAG repeat length in the HTT gene.
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36 or more repeats confirm the diagnosis.
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27–35 repeats are considered “intermediate,” meaning the person won’t develop symptoms but may pass the mutation to children.
4. Brain Imaging
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MRI or CT scans reveal shrinkage of the basal ganglia and cortex.
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Functional MRI may detect early changes before physical symptoms appear.
🧫 Genetic Counseling and Family Planning
Because HD is autosomal dominant, each child of an affected parent has a 50% chance of inheriting the mutation.
Genetic counseling is strongly recommended for:
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Individuals with a family history of HD
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Couples planning children
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Asymptomatic adults seeking predictive testing
Prenatal testing or preimplantation genetic diagnosis (PGD) can help identify embryos without the mutation before pregnancy.
💊 Is There a Cure for Huntington’s Disease?
Currently, there is no cure, but medical research is advancing rapidly.
Existing treatments aim to manage symptoms and improve quality of life.
1. Medications
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Tetrabenazine (Xenazine) and Deutetrabenazine (Austedo) reduce involuntary movements (chorea).
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Antipsychotics (e.g., risperidone, olanzapine) help control aggression or hallucinations.
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Antidepressants treat mood disorders like depression or obsessive behaviors.
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Mood stabilizers may reduce impulsivity and mood swings.
2. Physiotherapy & Occupational Therapy
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Improves balance, coordination, and posture
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Reduces risk of falls
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Teaches strategies to maintain independence
3. Speech & Swallowing Therapy
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Helps with communication and safe swallowing
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Reduces aspiration pneumonia risk
4. Nutrition & Supportive Care
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High-calorie diet recommended due to increased energy expenditure
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Ongoing care from a multidisciplinary team (neurologist, physiotherapist, psychiatrist, dietitian)
🧬 Recent Research & Gene Therapy
Recent advances in molecular medicine have shifted the landscape of HD research.
Scientists are now targeting the root genetic cause, not just symptoms.
1. Gene Silencing Therapies
Drugs like AMT-130 and IONIS-HTTRx use RNA interference or antisense technology to “silence” the faulty HTT gene, reducing production of the toxic protein.
AMT-130 in 2025
In a 36-month clinical trial led by University College London (UCL) and uniQure, patients who received AMT-130 gene therapy showed:
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75% slower disease progression
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Lower neurofilament light protein (NfL) levels (a marker of brain injury)
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Sustained improvement in motor and cognitive function
Professor Sarah Tabrizi, lead scientist at UCL, said:
“AMT-130 has the potential to preserve daily function and meaningfully slow disease progression. It’s the first true step toward modifying the course of Huntington’s disease.”
A single dose may last a lifetime, offering the possibility of one-time treatment for HD.
🧩 How Gene Therapy Works
AMT-130 uses a harmless viral vector (adeno-associated virus) to deliver new DNA into neurons in the striatum, the brain region most affected by HD.
This DNA instructs cells to produce small RNA molecules that bind to the mutant huntingtin RNA and trigger its destruction - permanently reducing toxic protein levels.
The therapy is delivered through stereotactic neurosurgery, a minimally invasive, highly precise brain procedure.
🧘♀️ Living With Huntington’s Disease
Although HD is life-altering, early management and family support can make a major difference.
1. Emotional & Mental Health
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Seek therapy or join HD support groups.
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Antidepressants and counseling can help cope with anxiety or depression.
2. Exercise & Physical Therapy
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Gentle aerobic exercises and stretching improve mood and mobility.
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Balance training helps prevent injuries.
3. Daily Function & Adaptation
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Use adaptive tools for eating, writing, and dressing.
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Simplify daily routines to reduce stress.
4. Family Support & Caregiving
Caregivers play a crucial role in maintaining emotional stability and ensuring consistent medical follow-up. Education and community resources are essential.
🧭 Prognosis
After symptom onset, life expectancy averages 15–25 years.
However, symptom progression varies.
While motor symptoms dominate in later stages, psychiatric issues may appear earlier.
With supportive care, patients can maintain a good quality of life for many years.
🌍 Global Impact & Awareness
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Estimated 100,000+ people worldwide live with Huntington’s disease.
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Organizations such as the Huntington’s Disease Society of America (HDSA) and Huntington’s Disease Association (UK) provide education, advocacy, and family support.
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World Huntington’s Disease Awareness Day is observed every May 15, symbolized by the blue and purple ribbon.
🧩 Frequently Asked Questions (FAQ) About Huntington’s Disease
1. What causes Huntington’s disease?
Huntington’s disease is caused by a genetic mutation in the HTT gene on chromosome 4, which produces an abnormal version of the huntingtin protein. This defective protein damages brain cells, leading to movement, cognitive, and psychiatric problems.
2. What are the early symptoms of Huntington’s disease?
Early signs may include mood changes (irritability or depression), subtle involuntary movements, forgetfulness, and poor coordination. Over time, symptoms progress to more severe physical and mental impairment.
3. At what age does Huntington’s disease appear?
Most people start showing symptoms between 30 and 50 years of age, though juvenile forms can appear in childhood or teenage years.
4. Can Huntington’s disease be cured?
Currently, there is no cure, but treatments can help manage symptoms. New gene-silencing therapies like AMT-130 and IONIS-HTTRx are showing promise in slowing disease progression.
5. Is Huntington’s disease hereditary?
Yes. It’s an autosomal dominant disorder — meaning a parent with the faulty gene has a 50% chance of passing it on to their child.
6. How is Huntington’s disease diagnosed?
Diagnosis involves neurological exams, psychiatric evaluation, genetic testing, and brain imaging (MRI or CT) to detect changes in the basal ganglia.
7. How long can a person live with Huntington’s disease?
After symptom onset, the average life expectancy is 15 to 25 years, though supportive care and physiotherapy can extend quality of life.
8. What are the latest treatments for Huntington’s disease in 2025?
In 2025, AMT-130 gene therapy has shown positive trial results, significantly slowing disease progression. Other approaches under research include CRISPR gene editing, stem cell therapy, and neuroprotective drugs.
9. What lifestyle changes can help with Huntington’s disease?
Regular exercise, physiotherapy, balanced nutrition, emotional support, and speech therapy can help maintain independence and improve well-being.
10. Where can families get support for Huntington’s disease?
Families can seek help from organizations such as the Huntington’s Disease Society of America (HDSA), European Huntington Association, and local physiotherapy or neurology centers.