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    What is Huntington's disease - Causes, Symptom, and Treatment

    Behavioural changes associated with physical weakness resulting from Huntington’s disease cannot be reverted, considering medical innovations until this day. However, doctors can help patients adjust to the prevailing conditions quickly by prescribing timely treatment. Keep reading to know all about this disease, its types and other information.

    Team Digit

    What Is Huntington’s Disease?

    Huntington’s disease is a rare inherited neurological disorder that restricts a person’s functional capabilities and gradually leads to psychiatric ailments. As per medical researchers at Stanford Healthcare most of the affected individuals experience its initial impact when they are in their mid-30s or 40s.

    What Are the Types of Huntington’s Disease?

    Huntington’s disease has two broad subtypes:

    1. Juvenile Huntington’s disease: Individuals developing the signs become prone to health challenges in childhood or adolescence. Apart from initial difficulties in performing physical activities, patients also suffer from mental and emotional trauma.
    2. Adult-onset Huntington’s disease: More common between the two categories, the symptoms of this subtype slowly start to creep in when an individual approaches their 30s or 40s. Decision-making capabilities greatly diminish with time, and they need constant supervision to prevent the chances of suffering an injury.

    What Are the Signs and Symptoms of Huntington’s Disease?

    The disease brings a vast array of mobility-related, psychiatric and cognitive disabilities, the severity of which varies from patient to patient. While a particular symptom may appear to overpower others in terms of seriousness in the initial stages, its impact can slow down with proper medical attention.

    In the next section, we discuss the symptoms of juvenile and adult-onset Huntington’s disease.

    Symptoms of Juvenile Huntington’s Disease

    People in their adolescent years experience different symptoms than grown-ups (aged between 30 and 40). Some of the initial symptoms include:

    Physical Changes

    • Clumsiness and frequent falls while walking or climbing stairs
    • Random involuntary movements
    • Contracted muscles (this is a sign often prevalent among young individuals yet to reach adolescence)
    • Seizures

    Behavioural Changes

    • Difficulty in concentrating on a subject for long
    • Abrupt poor performance in overall academic results

    2. Symptoms of Adult-onset Huntington’s Disease

    The disorders associated with this sub-type cast a considerable impact on a person’s movement, cognitive and emotional responsiveness to a specific limit. We have listed the difficulties sighted in all these aspects.

    Movement Disorders

    People diagnosed with Huntington’s disease can experience movement challenges in voluntary movement as well as involuntary body part movements. The affected individual’s day to day communication and working capabilities are considerably restricted due to the following problems:

    • Impaired posture

    • Poor body balance

    • Involuntary eye movements

    • Involuntary jerking (chorea)

    • Trouble swallowing

    Cognitive Disorders

    People living with Huntington's disease frequently experience the following difficulties:

    • Lack of awareness regarding the consequence of a particular act
    • Problems related to emphasising essential tasks at hand
    • Tendency to be stuck on a specific thought, past behaviour or action
    • Lack of impulse control resulting in occasional outbursts
    • Difficulty in finding the right words while speaking
    • Sexual promiscuity

    Psychiatric Disorders

    Individuals start suffering from depression due to the implications of brain injury and sporadic transformations in brain functioning. Other detrimental signs consist of:

    • Feelings of sadness and irritability
    • Insomnia
    • Urge to stay alone for most of the time
    • Increased fatigue
    • Frequent thoughts of suicide

    Apart from all the listed Huntington’s disease symptoms, weight loss is a common phenomenon among those going through the advanced stages of this disorder.

    What Are the Causes of Huntington’s Disease?

    A person's chances of developing signs of Huntington's disease are directly related to genetic mutation faults on chromosome 4. A usual copy of the concerned gene promotes greater huntingtin protein production in affected individuals. It causes the excessive generation of CAG (cytosine, adenine and guanine).

    Under normal conditions, these CAG components must repeat 36 times or less while replicating the DNA structure. However, if it exceeds this limit, the huntingtin or HTT protein also starts accumulating surrounding the brain cells, leading to a toxic condition for overall brain development.

    Individuals may show symptoms of Huntington's disease if the CAG repeats more than 36 times. The symptoms will definitely express progressive growth in cases where the repetition crosses 40 times.

    What Are the Risk Factors for Huntington’s Disease?

    Medical researchers have extensively explored the genetic, demographic, environmental and medical risk factors that could possibly cause the development of Huntington's disease in humans. However, out of all these factors, the genetic aspect consistently contributes to the progression of this condition.

    People experiencing the following genetic traits are at greater risk of developing the detrimental symptoms of Huntington’s disease:

    • Increased CAG repeat length (more than 36 times)
    • CAG instability
    • Other associated genetic modifiers

    How to Diagnose Huntington’s Disease?

    People visit a doctor when they feel that they are undergoing peculiar emotional changes recently. Doctors first check the visitor’s medical history and ask whether any of their family members experience the same symptoms.

    If the person is susceptible to Huntington's disease symptoms, the doctor refers them to a neurologist. Besides this, a few imaging tests are needed, like MRI and CT scans. It will help to point out any significant changes in the brain structure (if any).

    Apart from the above diagnostic measures, some people can also undergo genetic testing, mainly when they know their relatives had Huntington's disease. However, they must first ask a genetic counsellor whether they should opt for the test.

    What Is the Treatment for Huntington’s Disease?

    Listed here are the medications and therapies necessary for treating Huntington’s disease.

    • Antipsychotic drugs and tetrabenazine to curb impairments of voluntary movement.
    • Diazepam to restrict incidents of involuntary muscle contractions and frequent muscle rigidity.
    • Mood stabilising drugs and antidepressants to control depression.

    As patients diagnosed with Huntington's disease experience frequent falls, physicians prefer adding certain strength-developing activities to their daily lives. The goal is to improve the patient's muscle coordination and balance, and fix flexibility issues. Additionally, some devices are also available in the market that helps affected individuals with:

    • Eating and drinking
    • Bathing
    • Getting dressed
    • Performing a host of everyday movements

    What Is the Life Expectancy After Huntington’s Disease?

    The average lifespan ranges from 10 to 30 years after a person with Huntington's disease symptoms is diagnosed for the first time. However, proper medical attention, adequate rest, balanced nutrition, and other suitable living conditions can improve life expectancy significantly. In addition, people currently experiencing the disorders associated with the advanced stage of Huntington's disease must have access to 24x7 intensive care to slow down the progressive changes in nerve cells of their brain.

    What Are the Tips for Managing Huntington’s Disease?

    Depending on which symptoms are more adverse, the patients should adopt various remedies for Huntington's disease prevention at different stages. Despite this, we have listed a few common coping mechanisms that apply to everyone receiving a diagnosis.

    • Patients should stay in touch with a reliable therapist who can manage the emotional challenges bound to emerge due to diagnosis.
    • Moderate exercising should be a part of the person’s daily life to improve muscle coordination and flexibility.
    • Choosing a caring partner who is appropriately educated and has the necessary training to perform all the daily chores on the concerned person's behalf is essential. As it will be an ongoing process, extra attention must be given to this aspect.
    • HTT mutation is the primary reason behind patients developing symptoms of Huntington’s disease. Though doctors cannot reverse this condition, medications and therapies can remarkably slow down the process of brain cell dysfunction. Hence it is critical to identify the symptoms early on and prepare for medical attention accordingly.

    Frequently Asked Questions

    Can you live a normal life with Huntington’s disease?

    The progression rate of this disease’s symptoms varies from one person to another. However, an affected individual can live up to their late 50s if they do not experience any fatal injury from falling or are not affected by infections like pneumonia.

    The progression rate of this disease’s symptoms varies from one person to another. However, an affected individual can live up to their late 50s if they do not experience any fatal injury from falling or are not affected by infections like pneumonia.

    How common is Huntington’s disease in India?

    Though it is tough to get an exact figure, as per the medical researchers at NIMHANS, 3 to 5 people in India out of 1,00,000 are currently estimated to develop some of the symptoms of Huntington’s disease. This means almost 40,000-70,000 people are suffering from HD in India.

    Though it is tough to get an exact figure, as per the medical researchers at NIMHANS, 3 to 5 people in India out of 1,00,000 are currently estimated to develop some of the symptoms of Huntington’s disease. This means almost 40,000-70,000 people are suffering from HD in India.

    Can Huntington’s disease cause dementia?

    In the later stages of Huntington’s disease, a person may develop the symptoms of dementia that eventually leads to memory loss and significant personality changes.

    In the later stages of Huntington’s disease, a person may develop the symptoms of dementia that eventually leads to memory loss and significant personality changes.

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    Author: Team Digit

    Last updated: 30-05-2025

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