Huntington's Disease

Huntington’s Disease: Causes, Symptoms, Types, Stages and Treatments

Commonly asked questions about Huntington’s Disease:

What is Huntington’s Disease?

Huntington’s Disease is an inherited disorder, causing degeneration of neurons, mostly in motor control regions of the brain.

More than 30,000 Americans are diagnosed with this disease, which typically occurs between ages 30 and 50.

An earlier onset form of Huntington’s Disease is Juvenile Huntington’s Disease (JHD), which generally develops in individuals under the age of 20.

What is the Cause of Huntington’s Disease?

Huntington’s Disease is caused by an inherited defect in a single gene for a protein, called Huntington. This disease is an autosomal dominant disorder, meaning a patient needs only one copy of the defective gene to develop the disorder.

A person inherits two copies of every gene, except those on the sex chromosomes. A parent with a defective Huntington gene could pass along either the defective or healthy gene, therefore, each child in the family has a 50 percent chance of inheriting the defective one.

What are the Symptoms of Huntington’s Disease?

Huntington’s Disease offers a wide spectrum of signs and symptoms, however, symptoms vary greatly among affected people.

Several disorders appear to be more dominant or have greater effects on each patient’s ability. The following disorders are among the most common symptoms a patient with Huntington’s Disease can experience, according to Mayo Clinic:

Kinesthetic Disorders

These include both voluntary and involuntary movements such as:

  • Involuntary jerking or writing movements
  • Muscle problems such as rigidity or contracture in muscles
  • Slow or abnormal eye movements
  • Impaired posture or balance
  • Difficulty with physical production of speech or swallowing

Cognitive Disorders

  • Difficulty organizing, prioritizing, and maintaining focus
  • Lack of flexible thinking; tendency to get stuck on one thought, behavior, or action
  • Lack of impulse control
  • Little to no awareness of one’s own behaviors or abilities
  • Slow when processing thoughts or recalling words
  • Difficulty learning new information

Psychiatric Disorders

One of the most common psychiatric disorders associated with Huntington’s Disease is depression, which occurs due to the subsequent changes in brain function and damage.

  • Irritability, sadness, apathy
  • Social withdrawal
  • Insomnia
  • Fatigue or extreme loss of energy
  • Frequent thoughts of death, dying, or suicide

Other psychiatric disorders may include obsessive-compulsive disorder, mania, or bipolar disorder.

What are the Risk Factors for Huntington’s Disease?

Simply having a parent with Huntington’s Disease is enough of a risk factor for one to be affected.

An offspring of an affected parent has 50 percent chance of inheriting the disease, yet there are no direct factors that correlate to the exact causation of Huntington.

This genetic mutation takes place in gene IT-15, chromosome 4.

What is Juvenile Onset Huntington’s Disease (JHD)?

Juvenile Onsets Huntington’s Disease is a less common, early onset of Huntington’s Disease, which begins in early childhood or adolescence.

Breakdown of brain cells occur in certain areas of the brain due to it being a progressive disorder.

This disease accounts for 5-10 percent of Huntingon’s Disease cases and those affected mostly inherited the disease by their fathers.

There is currently no cure available, however, treatment is meant to increase the patient’s quality of life and lessen symptoms.

What is the Treatment for Huntington’s Disease?

Although there are many drugs to help treat Huntington’s Disease, therapies like these facilitate a patient’s way of living.


A psychotherapist, psychiatrist, psychologist, or clinical social worker can all provide emotional therapy by allowing a person to manage behavioral problems, develop coping strategies as the disease progresses, and facilitate effective communication among family or friends.

Speech therapy

Impairment of muscles in the mouth are commonly a consequence of Huntington’s Disease and can therefore affect speech and the ability to eat or swallow. By attending speech therapy, a patient will be able to clarify his or her pronunciation with the use of communication devices.

Physical Therapy

Physical therapy is meant for patients to strengthen flexibility, balance, and coordination by maintaining mobility with reduced chances of falling.

Improving posture also benefits the patient by reducing the severity of some movement problems. This can also be assessed with the use of a Walkman or wheelchair for assistance.

A physical therapist may provide instruction on how to use the device carefully, and regular exercise routines are adapted to suit the flexibility and mobility of the affected one.

Occupational Therapy

An occupational therapist is made to assist the person affected as well as family members and caregivers with the use of assistive devices. These improve functional abilities for daily application.

  • Handrails at home
  • Assistive devices for daily activities (such as bathing or grooming)
  • Eating and drinking utensils for ones that need to modify fine motor skills.

What is the Diagnosis for Huntington’s Disease?

People with Huntington’s Disease often start to experience the symptoms years before the condition is confirmed. This is particularly true when the patient is unaware of their family history. However, your doctor will most likely confirm your diagnosis with genetic testing. This is only one of the few ways to confirm the presence of Huntington’s disease. The rest are as follows:

Genetic test

An offspring of someone with Huntington’s disease can take a genetic test after the age of 18 to establish its presence. If positive, they’ll develop Huntington’s however it’s not possible to work out the exact age.

Brain scan

In the early stages of Huntington’s disease, the brain may not experience any specific changes according to the scan. A doctor may use this form of diagnosis to examine whether there are any additional diseases.

A brain scan may typically involve a computerized tomography (CT scan) or a magnetic resonance imaging (MRI scan).

Preimplantation genetic diagnosis

This genetic diagnosis can be used to predict if a partner is known to have a faulty gene.

In vitro fertilization (IVF) treatment genetically tests the embryo to see if it contains the faulty gene. This embryo will only be placed inside the woman if it doesn’t contain the faulty gene, therefore creating no risk for developing Huntington’s disease.

This isn’t the most common type of procedure and should be considered in detail before testing.

What are the Stages of Huntington’s Disease?

The progression of Huntington’s Disease can be divided into five stages, according to

  1. Early Stage: functional both at home and at work
  2. Early Intermediate Stage: remains employable but with lessened capacity, they are still able to manage daily affairs with some difficulties.
  3. Late Intermediate Stage: Patient can no longer work or manage daily household responsibilities and need help or supervision to handle daily financial duties.
  4. Early Advanced Stage: No longer independent in daily activities but is still capable of living at home with family or professional carers.
  5. Advanced Stage: Patient requires complete daily support by a professional nursing care or professionals.

Huntington’s Disease Statistics

Huntington’s Disease affects both men and women equally while commonly appearing during middle-age.

  • Approximately 6,000 people are affected in the United Kingdom.
  • Approximately 1 in 10,000 Americans affected and at least 150,000 have a 50 percent risk of developing Huntington’s Disease.
  • Approximately 1 in 1,000,000 Asian or African Americans.

The J. David Gladstone Institutes, Taube Philanthropies, and the Koret Foundation initiated research on how to prevent, cure, or treat Huntington’s disease by 2020.

How do I Prevent Huntington’s Disease?

Prevention for Huntington’s Disease include genetic testing and in verto fertilization in order to avoid the mutated gene to be passed on to future generations.

Meeting with a genetic counselor will help soften the hardships if results for these tests come positive and guide them towards therapy facilitation.

There is no exact way on how to prevent Huntington’s disease from forming as it is a 50 percent chance only if a parent or family member is affected.

What Drugs are Used to Treat Huntington’s Disease?

Movement Disorders

  • Tetrabenazine – Xenazine
  • Antipsychotic drugs:
    • Haloperidol
    • Chlorpromazine
  • Amantadine
  • Levetiracetam
  • Clonazepam

Psychiatric Disorders

  • Antidepressents:
    • Citalopram
    • Fluoxetine
    • Sertraline
  • Antipsychotic drugs:
    • Quetiapine
    • Risperidone
    • Olanzapine
  • Mood Stabilizing drugs:
    • Valproate
    • Carbamazepine
    • lamotrigine

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