What is Huntington's disease? Symptoms & Treatment

Huntington’s disease is a rare but devastating neurological disorder that slowly robs a person of their ability to think, move, and function independently. It is a genetic condition that passes from one generation to the next, caused by a mutation in a single gene. The disease is progressive, meaning symptoms worsen over time, and unfortunately, there is currently no cure. However, advances in Huntington’s disease treatments and therapies have significantly improved symptom management and quality of life for those affected.

Understanding what is Huntington’s disease, its symptoms, available treatments, and genetic implications is essential—not just for those living with the condition, but also for their families, caregivers, and society at large.

What is Huntington’s Disease?

Huntington’s disease is a hereditary brain disorder caused by a defect in the HTT gene on chromosome 4. This defective gene contains an abnormal repetition of the DNA sequence “CAG.” In healthy individuals, this sequence repeats 10–35 times, but in people with Huntington’s disease, it repeats 36 or more times. The higher the number of repeats, the earlier and more severe the onset of symptoms.

This mutation leads to the production of an abnormal form of the huntingtin protein, which gradually damages and kills brain cells—particularly in areas responsible for movement, thinking, and emotional regulation. Over time, this results in a wide range of Huntington’s disease symptoms that affect physical, cognitive, and psychiatric health.

Huntington’s disease is autosomal dominant, meaning if one parent carries the defective gene, each child has a 50% chance of inheriting the condition. This makes genetic screening for Huntington’s disease a critical tool for at-risk individuals.

How Common is Huntington’s Disease?

Many people wonder, how common is Huntington’s disease? Globally, it is considered rare, affecting about 3–7 per 100,000 people of European ancestry. The condition is less common in Asian and African populations, though cases are documented worldwide.

In India, precise data is limited due to underreporting and misdiagnosis, but experts believe the prevalence is rising as awareness and genetic screening for Huntington’s disease become more accessible. Given its hereditary nature, Huntington’s tends to cluster in families, often affecting multiple generations.

Huntington’s Disease Symptoms

The signs of Huntington’s disease usually appear between the ages of 30 and 50, though in rare cases, symptoms can start in childhood (juvenile Huntington’s disease) or later in life. The condition impacts three main areas: movement, cognition, and psychiatric health.

1. Movement Symptoms

The most visible signs are involuntary movements, known as chorea—jerky, unpredictable motions that can affect the face, limbs, and torso. Other movement-related Huntington’s disease symptoms include:

• Muscle rigidity or stiffness
• Problems with coordination and balance
• Slow or abnormal eye movements
• Difficulty speaking and swallowing (dysphagia)
• Impaired walking, leading to falls

As the disease advances, voluntary movements also become harder to control, making daily activities increasingly challenging.

2. Cognitive Symptoms

Huntington’s disease progressively damages brain areas involved in thinking and memory, leading to:

• Difficulty organising, prioritising, and planning tasks
• Trouble focusing and multitasking
• Memory loss and confusion
• Poor judgment and decision-making skills
• Slowed thought processes

These cognitive declines often appear before severe physical symptoms, gradually impacting work performance, relationships, and independence.

3. Psychiatric Symptoms

Changes in mood and personality are common, sometimes emerging years before movement symptoms. Psychiatric-related Huntington’s disease symptoms include:

• Depression and anxiety
• Irritability and aggression
• Apathy or lack of motivation
• Social withdrawal
• Obsessive-compulsive behaviors
• In rare cases, psychosis (hallucinations, delusions)

It is important to note that not everyone with Huntington’s experiences all symptoms, and their severity varies from person to person.

Genetic Screening for Huntington’s Disease

One of the most significant developments in managing this disorder is genetic screening for Huntington’s disease. This process involves a simple blood test to check the number of CAG repeats in the HTT gene.

Who should consider testing?

• People with a family history of Huntington’s disease
• Individuals showing early signs and symptoms
• Couples planning children where one partner is at risk

Genetic screening has both medical and emotional implications. A positive result confirms that the individual will develop the disease at some point (though the exact onset time cannot be predicted). A negative result can bring immense relief but may also trigger survivor’s guilt in families where others are affected.

Many healthcare providers recommend genetic counseling before and after testing to help individuals understand the results and make informed decisions about family planning, lifestyle, and future care.

Huntington’s Disease Treatments

While there is currently no cure, Huntington’s disease treatments focus on managing symptoms and improving quality of life. These approaches are often multidisciplinary, involving neurologists, psychiatrists, physical therapists, and speech therapists.

1. Medications for Movement Symptoms

Drugs such as tetrabenazine and deutetrabenazine are approved to reduce chorea by lowering dopamine activity in the brain. Antipsychotics like risperidone or olanzapine may also help control involuntary movements and treat associated psychiatric symptoms.

2. Medications for Psychiatric Symptoms

Antidepressants (SSRIs like fluoxetine) can help manage depression and anxiety. Mood stabilisers such as valproic acid may help control irritability, aggression, and mood swings.

3. Supportive Therapies

A combination of Huntington’s disease therapies can greatly improve day-to-day functioning:

• Physical therapy: Enhances strength, flexibility, and balance
• Occupational therapy: Adapts daily activities to maintain independence
• Speech therapy: Helps with communication and swallowing issues
• Nutritional support: Prevents weight loss and ensures adequate energy intake

Huntington’s Disease Therapies and Emerging Research

Beyond symptom management, research is progressing toward disease-modifying treatments. Some promising areas include:

• Gene-silencing therapies: Using antisense oligonucleotides (ASOs) to reduce production of the abnormal huntingtin protein
• Stem cell therapy: Aiming to replace damaged neurons
• Neuroprotective drugs: Designed to slow brain cell damage

Clinical trials are ongoing worldwide, and while a definitive cure is not yet available, these innovations bring hope to patients and families.

Living with Huntington’s Disease

Living with Huntington’s disease requires significant adaptation, both for the patient and their support network. Early planning, covering medical care, financial arrangements, and emotional well-being, can make a big difference. Support groups, advocacy organisations, and counseling provide emotional strength and practical resources.

Regular exercise, a balanced diet, and maintaining social connections have been shown to help slow functional decline, even if they cannot stop disease progression. Caregivers also need support, as the emotional and physical demands of providing care can be overwhelming.

Conclusion

Huntington’s disease is a rare but life-changing neurological disorder that intertwines genetic destiny with personal resilience. From understanding what is Huntington’s disease to recognising its wide-ranging symptoms and exploring available treatments and therapies, awareness is key to early intervention and better quality of life.

While there is no cure yet, advances in genetic screening for Huntington’s disease, targeted medications, and innovative research hold promise for the future. 

Given the long-term medical needs associated with Huntington’s, having comprehensive health insurance is essential to cover the high costs of consultations, therapies, and medications. Plans from reputed providers like Niva Bupa Health Insurance for NRI can offer robust coverage, including access to quality hospitals, cashless treatments, and benefits tailored for chronic conditions. Securing the right plan not only helps manage the financial burden but also ensures continued access to the best possible care throughout the journey with Huntington’s disease.

FAQs

1. What is Huntington’s disease?

Huntington’s disease is a rare, inherited neurological disorder that causes the progressive breakdown of nerve cells in the brain. It affects movement, cognitive abilities, and behavior over time. The condition is caused by a mutation in the HTT gene and is passed from parent to child in an autosomal dominant pattern, meaning only one copy of the defective gene is enough to cause the disease.

2. What are the early symptoms of Huntington’s disease?

Early symptoms may include subtle changes in mood, personality, and coordination. People might experience irritability, depression, difficulty concentrating, and minor involuntary movements (chorea). As the disease progresses, these symptoms intensify and are accompanied by more noticeable movement disorders, speech difficulties, and cognitive decline.

3. How is Huntington’s disease diagnosed?

Diagnosis is based on a combination of clinical evaluation, family history, neurological examination, and genetic testing. MRI or CT scans may also be used to assess brain changes. Genetic testing can confirm the presence of the mutated HTT gene, even before symptoms appear.

4. Is there a cure for Huntington’s disease?

Currently, there is no cure for Huntington’s disease. However, treatments can help manage symptoms and improve quality of life. Medications may be prescribed to control involuntary movements, mood disorders, and other symptoms. Physical therapy, occupational therapy, and speech therapy also play an important role in care.

5. What treatments are available for Huntington’s disease?

Treatment focuses on managing symptoms and maintaining independence for as long as possible. Drugs like tetrabenazine and deutetrabenazine can help control chorea (involuntary movements), while antidepressants and antipsychotics manage mood and behavioral symptoms. Supportive therapies, nutritional guidance, and structured daily routines are essential in slowing functional decline.